ACTA 0 P H T H A L M 0 L O G I C A
70 (1992) 495-505
Long-term study of patients with congenital pit of the optic nerve and persistent macular detachment G. P. Theodossiadis, M. Panopoulos, A. K. Kollia and G. Georgopoulos Department of Ophthalmology, University of Athens, Athens, Greece
Abstract. During the period 1970-87 we evaluated the changes of the optic disc, penpapillary area, detached macula and visual acuity in 16 cases with congenitalpit of the optic nerve and macular detachment. T h e study revealed in 9 of the 16 cases (56%)an increase of the dimension of the pit or changes in its color, findings which were directly related to the duration of the macular detachment. Chorioretinal scamng, pigment migration, or both, were also noted mainly at the temporal margin of optic disc. In 5/16 cases we found during the follow-upan extension of macular elevation.In altogether 10 out of 16 cases the retinal elevation covered the larger portion of the mid-periphery temporally. In 7/16 cases the final visual acuity remained unchanged, in 9/16 cases deteriorated. The difference, however, in the latter 9 cases between initial and h a 1 visual acuity was negligible. During the follow-upperiod deterioration of the visual fields was also noted. Key words: congenital pit of optic nerve - persistent macular detachment - cilioretinal arteries and pit -visual acuity - visual fields - evolution of the pit - changes in the detached retina.
Congenital pit of the optic nerve is a rare abnormality. Macular elevation occurs in 30-40%of the total number of cases. The origin and the structure of the accumulated subretinal fluid in the macula in cases of optic nerve pit continues to be a controversial subject. Many authors support the opinion that the fluid originates from the vitreous (Sugar 1964; Brown et al. 1979). Others have suggested that the fluid is of cerebrospinal origin (Gass 1969; Regenbogen et al. 1964; Gordon &
Chatfield 1969), or that it is caused by vascular abnormalities around the pit (Farpour & Babel 1968). So far, the natural history of the disease has not been clearly defined and its treatment is still speculative.The present paper intends to examine the evolution of the optic nerve pit, the visual acuity and visual fields as well as the changes in the detached retina over a long follow-up period.
Materials and Methods The present paper studies the evolution of 16 cases with congenital pit of the optic nerve associated with persistent macular elevation (8/16 cases did not receive treatment, while 8/16 patients did not respond to laser treatment). The patients were examined during the period 1970-87. The followup ranged from 4-17 years. In 14/16cases the pit was located at the temporal margin of the optic disc while in 2/16 cases its location was central. In all but one case the disorder was unilateral. In order to facilitate evaluation of the changes studied we divided the 16 cases into the sub-groups A1 (untreated cases n = 8) and A2 (unsuccessfully treated cases n = 8). The 8 cases in sub-group A2 which were treated without absorption of the subretinal fluid belong to two distinct periods of treatment, viz. one case treated in 1970-75 and 7 cases in 1975-87. In the former, a single row of xenon arc photocoagulation (Zeiss) was applied in a c o d u e n t fashion adjacent to the temporal margin of the optic disc (Shutter was 1.5 495
and intensity varied between second and third gradations). In the subsequently treated 7 cases we used argon laser. The laser bums were applied in a double interrupted row along the temporal edge of the optic disc 200 pm+ 300 mW X 0.3 sec). We left the decision whether to submit to laser coagulation to our patients, having told them that there was a good chance that this would lead to absorption of retinal fluid and improved visual acuity. At the same time and according to the opinion then prevailing, we informed them that since the natural history of the disease is uncertain, the fluid might well be spontaneously resolved. ALI 16 studied patients were regularly examined every 9 to 12 months, each examination comprising color photography, fluorescein angiography and stereophotography of the fundus in the last 5 years. Visual acuity, visual fields and intraocular pressure were also checked.
Results Results of the first examination The results of the first examination regarding the characteristics of the optic disc, such as the size of
the pit, the coexistence of ciliary arteries with the pit, the fluorescein appearance of the pit, are set forth in Table 1. This table also provides details concerning the extent of macular elevation, as well as the structure and location of fluid concentration between the retinal layers or subretinally.The analysis of Table l shows that in 10/16 cases (62%)cilioretinal arteries were observed emerging either from the bottom of the cup in which the pit was located or from its margins. Fluorescein angiography at first examination revealed brightness of the pit in 8/10 and fluorescein leakage from the bottom and margins of the pit in 2/16 cases. Fluorescein brightness or leakage of the pit was observed in all the 10 cases where cilioretinal arteries were found in conjunction with the pit. In 6/16 cases where the congenital pit did not coexist with ciliary arteries, the pit appeared dark in fluorescein angiography (Figs. 1 and 2). At the time when the disease was diagnosed the macular detachment was found to be of varying extent, In 11/16 of the cases the elevation was confined to the area between the supratemporal and inferotemporal arcades, while in the remaining 5 cases it extented well beyond them. There was no
Table 1. Characteristicsof the optic disc and macular elevation at first examination (number of cases 16).
Case number 1 2 3 4 5 6
115 116 113 1I 5 115 116
7
117 115 115 1I4
8 9 10 11 12 13 14 15 16
114 115 116 1I 3 116 115
Yes Yes No Yes Yes Yes Yes Yes No No No Yes Yes Yes No No
b b d b b b b b d d d 1 1
b d d
SD SD SD SD SD Schisis Schisis Schisis SD SD Schisis Schisis Schisis Schisis Schisis Schisis
A B B B A A B A B B A B B B B B
b: brightness of the pit; 1: fluorescein leakage; d: dark appearance of the pit; SD: sensory detachment; A: beyond the arcades; B: into the acrades.
496
Fig. 1. Fluorescein angiography of a case with congenital pit of the optic disc which is associated with cilioretinal arteries. Note the course of the 2 cilioretinal arteries emerging from the bottom and margin of the optic pit. Fluorescein brightness of the pit appears in the arteriovenous phase.
Fig. 2. Same patient as in Fig. 1 in the late venous phase. Leakage from the bottom of the pit, from its margins and in the subretinal space near the optic disc is also evident.
Table 2. Characteristics and follow-up of cases with persistent macular elevation No. 16
Case number
Age at
Visual acuity
onset I sex
at first
examination
Sub-group A, (untreated cases n = 8) 1 22 I F 201200 201 80 2 28 I F 3 51 I M 201200 4 32 I M 101400 5 15 I F 201400 6 28 I M 201400 7 20 I M 201 80 8 29 I M 201400
Final visual acuity
Type of macular elevation
Duration of follow-up (Years)
201400 201400 201400 CF 201400 201400 201200 201400
SD SD SD SD SD Schisis Schisis Schisis
7 11 6 14 9 7 8 10
SD SD Schisis Schisis Schisis Schisis Schisis Schisis
5 14 11 17 12
Sub-group A, (cases no responsive to treatment n = 8) 9 171F 201400 HM 10 22 I M 201100 201200 31 I F 201400 201400 11 21 I F CF CF 12 101400 CF 13 29 I M 33 I F 201200 201200 14 15 23 I F ' 201200 201400 201200 201200 16 43 I M
5
10
7
SD: sensory detachment. 32
Acta Ophthal. 70.4
497
Fig. 3. Fluorescein angiography in a patient with congenital pit associated with macular elevation. Note the dimensions of the cup in which the pit is located and its partial brightness.
Fig. 4. The same case as Fig. 3,14 years later. Fluorescein angiography at the same magnificationand in the same phase (arteriovenous) shows an increase of the cup dimensions. There is also a marked increase of scarring at the temporal margin of the optic disc.
correlation to be observed between the sue of the cup and the extent of the macular elevation.Variations were noted in the structure and location of fluid concentration between the retinal layers and subretinally. In 9/16 cases the prevailing clinical impression was that the macular elevation was of the schisis type, i.e. separation of the inner layers of the retina caused by the fluid communicating with the optic nerve pit (Theodossiadis1977). The remaining 7 cases presented the picture of sensory macular elevation. Out of 9 cases with schisis-like appearance, 4 had a lamellar macular hole located at the outer layer. All holes were of irregular shape and featured ragged edges as described by Lincoff et al. (1988).Also, in 4/'7cases with sensory detachment, lamellar holes or cystic changes were present. Analysis of Table 2 reveals that initial visual acuity was found to be equal to or less than 20/200 in 13 out of all cases. The reduction of the initial visual acuity was directly related to the damage induced by the long-standing subretinal fluid. In all cases studied, it proved impossible to determine the time of first appearance of the subretinal fluid. In order to facilitate evaluation of the changes of
the optic disc, peripapillary area, detached retina and visual acuity, we separately examined each of them during the follow-up period.
498
Follow-up results Changesof the dimensions or color of the optic disc pit (sub-group A, and A2) In 5 of the 16 cases, whose follow-upperiod lasted from 10-17years (Table 3), we noted an increase of the dimensions of the cup in which the pit was located (Figs. 3 and 4). In another 4 cases w'+ the same or shorter follow-up period, certain alterations were observed concerning the color of the pit, the grayish hue of which appeared more pronounced (Figs. 5 and 6) (Table 3). In all these 9/16 cases (56%)with alterations of the dimensions or color of the cup, the intraocular pressure ranged from 14-15 mmHg during the follow-up years. In these 9 cases we also found a posterior vitreous detachment. It should be pointed out that the remainder of the optic disc showed no alterations. Changes in peripapillary area In 6 of the 8 untreated cases (sub-group A,) with macular elevation persisting for a lengthy period,
Fig.5. Color photograph of a case with congenital pit and macular elevation. The clinical impression is that of schisis-type. The pit is barely visible at the temporal margins of the optic disc (4 o’clock).
Fig. 6. The same case as Fig. 5, 17 years later. Note the increase of the cup dimensions as well as its altered color. The pit has also widened and has acquired a darker grayish hue. 499
Table3. Changes in the pit of the optic disc. Cases with pit and persistent macular detachment n = 16. Case number
Duration of follow-up (years)
Visual acuity at first examination
Increase of the dimensions of the cup*
Sub-group A, (untreated cases n = 8) 1 7 201200 2 11 201 80 3 6 201200 4 14 201400 5 9 101400 6 7 201400 7 8 201 80 8 10 201400
Yes
No No No No Yes No No No
No No No Yes No No Yes No
Yes Yes No No Yes No No No
No Yes No Yes No No No
Sub-groupA, (unsuccessfullytreated cases n = 8) 9 5 201400 10 14 201100 11 11 201400 12 17 CF 13 12 101400 14 5 20/200 15 10 201200 16 7 201200
-Alteration of the color of the cup*
* Where the pit is located.
changes were also discovered in the peripapillary area. In these 6 cases a chorioretinal scarringfFig. 7) or pigment accumulation was noted mainly at the temporal margins of the optic disc, phenomena which became more pronounced in the course of time. The pigment accumulation was also encountered in the margins of the macular elevation (Fig. 9) (Table 4). Pigment accumulation at the temporal part of the optic disc was observed in 3 of 8 cases (sub-group A,). Changes in the area of the detached macula
In all the 16 cases defects of the pigment epithelium in the detached macula were noted. These defects were directly related to the duration of the macular elevation and were more pronounced in cases where follow-up period exceeded 10 years. The window defects of the pigment epithelium, which were almost similar in schisis and in sensory detachment, spread over the entire area of the elevation,especially where the subretinal fluid was long established. In contrast to the window defects which covered the entire area of the elevation, pig500
ment dispersion and pigment accumulation were also observed and were mainly confiied to the margins of the elevation especially in its lower part (Figs. 9 and 10). An extension of macular elevation in the course of the follow-up period was also observed in 5/16 cases (Figs. 8-10) (Table 4).The total number of cases where the elevation'extended beyond the arcades covering the larger portion of the midperiphery was 10 out of 16 studied. In 5 of these 10 cases the extension beyond the arcades was observed at first examination. Spontaneous reattachment occurred in 2/16 cases. One of the 2 cases belong to the untreated group (sub-group Al), while the other was from the unsuccessfully treated group (sub-group A*}. In the latter instance the absorption of the subretinal fluid occurred 2 years after the laser intervention. However, the retina detached again, in the first case after 12 and in the second after 19 months. The study did not reveal any difference in the extension of elevation between the schisis and sensory type of detachment. The visual fields examination carried out during
Fig. Z Semicircular extensive scarring at the temporal margins of the optic disc in a case of congenital pit with a long-standing macular detachment of schisis-type.Observe the slight pigment accumulation at 5 o’clock meridian at the margins of the optic disc.
the follow-up in sub-group A, (untreated cases) disclosed scotomas in the central and peripheral part. These changes could be ascribed to the lesions of the optic disc and to the long standing damage of retina caused by the elevation (Fig. 11). Visual fields were obtained with the Humphrey
Duration Visual acuity Case of follow-up at first number (years) examination
perimeter 610 in cases where the visual acuity permitted the checking of the visual field (Fig. 11). Visual acuity (sub-group A, and A2)
In 5 of the 8 untreated cases (sub-groupA,) in 4 of the 8 cases which failed to respond to treatment
Type of macular elevation
Extension of the macular elevation
Scarring or pigment accumulation
a: Pigment accumulation at the margins of the optic disc. b: Scarring at the margins of the optic disc. c: Pigment accumulation at the margins of the macular elevation.
501
Fig. 8. A case of congenital pit with persistent macular elevation in 1972. The arrows point to the limits of the elevation.
Fig. 9. The same case as Fig. 8, in 1986. Note the extension of the retinal elevation which has occurred in the meantime. The extension involves mainly the temporal and inferior margins of the elevation and covers a sizable part of the posterior pole. Also note the extensive dispersion of the pigment epithelium which did not exist in 1972 and its accumulation at the peripheral parts of the elevation and at the temporal margins of the optic disc.
502
Fig. 10. Fluorescein angiography of the previous case (Fig. 9) which clearly shows the pigment epithelium defects and pigment concentration at the periphery.
(sub-groupA2),i.e. in a total of 9 of the 16 cases of both groups, we noted a reduction of visual acuity. In the remaining 7/16 cases visual acuity remained unchanged (Table 2).
Discussion Since the first description of the disease by Wiethe in 1882 some open questions still persist regarding the origin of the fluid, the type of macular elevation (Lincoff et al. 1988; Kranenburg 1960; Streiff 1944), the treatment modalities (Theodossiadis 1977, 1988; Lincoff et al. 1988; Wiethe 1882; Vogel & Wessing 1974; Brockhurst 1975; Kottow 1982; Annesley et al. 1987; Alexander & Billson 1984; Cox et al. 1988;Schatz & McDonald 1988)and especially the natural history of the disease. As it is known hitherto, the study of the natural history has been confined to the changes of visual acuity and alterations of the fovea. In the present investigations we focused our attention on some characteristics of the disease which were found at first examination. We also studied some aspects of the natural history of the disease which so far have not been sufficiently investigated or reported. The coexistence of ciliary arteries with the pit
and the emergence of the artery from the bottom of the pit seem to contribute to the appearance of the fluorescein brightness of the pit or fluorescein leakage from it. In the studied patients hyperfluorescence was noted only in cases where the pit coexisted with cilioretinal arteries (Figs. 1 and 2). The changes of the optic disc, involving mainly the dimensions of the cup in which the pit is located and the grayish discoloration of the cup, were observed in cases with persistent macular elevation (9/16 cases = 56%).Increased cup dimensions were related to the duration of the macular elevation and were found in cases where the persisting submacular fluid had been present for 10 years and more (Table 3). The discoloration and the increased dimension of the pit could well be due to the gradual decrease or disappearance of the glial tissue of the cup during the follow-up years, as a result of the constant flow of fluid through the pit. In the 6 of the 8 non-treated cases of persistent macular elevation (sub-group A,) the pigment accumulation at the edge of the optic disc or at the margins of the elevation was related to the duration of the macular detachment. This is a secondary phenomenon, the existence of which might be ascribed to the dispersion of the pigment epithe503
Fig. 11. Visual field of the same case as shown in Figs. 8-10 presenting the corresponding defects of the pigment epithelium.
lium and the spread of the pigment to the areas mentioned. Since the pigment accumulation was noted in patients with macular detachment of long standing (6 years and more), this fact could help us to assess the approximate time of onset of the macular elevation (Table 4). Quite frequently the macular elevation and the window defects of the pigment epithelium were very extensive. At first examination in 5 out of the total 16 cases the detachment extended beyond the arcades involving a large proportion of the posterior pole. A feature deserving mention is that at the follow-up,the macular elevation extended beyond the arcades in 5 more cases. Altogether in 10/16 patients (62%)the elevation extended as far
504
as the midperiphery covering the greater part of it. The extension created irreversible damage to the pigment epithelium in the entire area of the elevation. In these cases it might therefore be more apposite to replace the customary designation ‘Congenital pit associated with macular detachment’by the term ‘Congenital pit associated with detachment of the posterior pole’. Regarding initial visual acuity, it should be borne in mind that many of our patients presented poor visual acuity already at first examination because of the long previous existence of the disease (Table 2). Poor initial visual acuity has been reported also by other investigators (Lincoff et al. 1988; Cox et al. 1988; Schatz & McDonald 1988).
Concerning the difference of visual acuity between first and final examination we found that in 7/16 cases the visual acuity remained unchanged, while in the remaining 9/16 cases it was worse than initially. The difference, however, between final and initial visual acuity in 9 cases was negligible since the visual acuity had already been poor at first examination.
Acknowledgment The authors would like to thank Mrs. Maria Papantoniou for secretarial help.
References Alexander T A & Billson F A (1984): Vitrectomy and photocoagulation in the management of serous detachment associated with optic nerve pits. Aust J Ophthalmol 12: 139-142. Annesley W, Brown G & BoilingJ (1987):Treatment of retinal detachment with congenital optic pit by krypton laser photocoagulation. Graefes Arch Clin Exp Ophthalmol 225 311-314. Brockhurst RJ (1975):Optic pits and posterior retinal detachment. Trans Am Ophthalmol SOC7 3 264-291. Brown G C, ShieldsJ A, Patty B E et al. (1979):Congenital pits of the optic nerve head: I. Experimental studies in collie dogs. Arch Ophthalmol97 1341-1344. Cox M S, Witherspoon D, Morris R E & Flynn H W (1988): Evolving techniques in the treatment of macular detachment caused by optic nerve pits. Ophthalmology 95: 889-896. Farpour H & Babel J (1968):Les fossettes papillaires: diagnostic dserentiel, anomalies vasculaires et cas limites. Ann Oculistique 201: 1. Gass J D M (1969):Serous detachment of macula secondary to congenital pit of the optic nerve head. Am J Ophthalmol67 821-841. Gordon R & Chatfield R K (1969):Pits in the disc associated with macular degeneration. Br J Ophthalmol53: 481-489. Kottow M (1982): Photocoagulation of optic disc pits. Ophthalmologica 184 26-29.
Kranenburg E W (1960): Crater-like holes in the optic disc and central serous retinopathy. Arch Ophthalmol 6 4 912-924. Lincoff H, Lopez R & Kreissig I et al. (1988): Retinoschisis associated with optic nerve pits. Arch Ophthalmol 106: 61-67. Regenbogen L, Stein R & Lazar M (1964): Macular and juxtapapillary serous retinal detachment associated with pit of the optic disc. Ophthalmologica 148: 247251. Schatz H & McDonald H R (1988):Treatment of sensory retinal detachment associated with optic nerve pit or coloboma. Ophthalmology 9: 178-186. StreB E B (1944): Affections maculaires associees a des carittes ou fossettes de la papille. Ophthalmologica 90: 90. Sugar H S (1964):An exploration for the acquired macular pathology associated with congenital pits of the optic disc. Am J Ophthalmol57: 833-835. Theodossiadis G P (1977): Evolution of congenital pit of the optic disc with macular detachment in photocoagulated and nonphotocoagulated eyes. Am J Ophthalmol84: 620-631. Theodossiadis G P (1988): Treatment of retinal detachment with congenital optic pit by krypton laser photocoagulation (Communication).Graefes Arch Clin Exp Ophthalmol226 299. Theodossiadis G P (1991): Visual acuity in patients with optic nerve pit (Letter). Ophthalmology 98: 563. Vogel M H & Wessing A (1974): Makulaverkderungen bei Grupenpapille. Klin Monatsbl Augenheilkd 164 90-97. Wiethe T (1882): Ein Fall von angeborener DBormitiit der Sehnervenpapille. Arch Augenheilkd 11: 14-19. Wise G, Dollery C & Henkind P (1971):Discifom macular disease. In: Wise G, Dollery C & Hankind P (eds). The Retinal Circulation. Harper & Row 471.
Received on December 9th, 1991. Author's address:
Professor G. P. Theodossiadis, 54, Omirou Street, 106 72 Athens, Greece.
505
70 (1992) 495-505
Long-term study of patients with congenital pit of the optic nerve and persistent macular detachment G. P. Theodossiadis, M. Panopoulos, A. K. Kollia and G. Georgopoulos Department of Ophthalmology, University of Athens, Athens, Greece
Abstract. During the period 1970-87 we evaluated the changes of the optic disc, penpapillary area, detached macula and visual acuity in 16 cases with congenitalpit of the optic nerve and macular detachment. T h e study revealed in 9 of the 16 cases (56%)an increase of the dimension of the pit or changes in its color, findings which were directly related to the duration of the macular detachment. Chorioretinal scamng, pigment migration, or both, were also noted mainly at the temporal margin of optic disc. In 5/16 cases we found during the follow-upan extension of macular elevation.In altogether 10 out of 16 cases the retinal elevation covered the larger portion of the mid-periphery temporally. In 7/16 cases the final visual acuity remained unchanged, in 9/16 cases deteriorated. The difference, however, in the latter 9 cases between initial and h a 1 visual acuity was negligible. During the follow-upperiod deterioration of the visual fields was also noted. Key words: congenital pit of optic nerve - persistent macular detachment - cilioretinal arteries and pit -visual acuity - visual fields - evolution of the pit - changes in the detached retina.
Congenital pit of the optic nerve is a rare abnormality. Macular elevation occurs in 30-40%of the total number of cases. The origin and the structure of the accumulated subretinal fluid in the macula in cases of optic nerve pit continues to be a controversial subject. Many authors support the opinion that the fluid originates from the vitreous (Sugar 1964; Brown et al. 1979). Others have suggested that the fluid is of cerebrospinal origin (Gass 1969; Regenbogen et al. 1964; Gordon &
Chatfield 1969), or that it is caused by vascular abnormalities around the pit (Farpour & Babel 1968). So far, the natural history of the disease has not been clearly defined and its treatment is still speculative.The present paper intends to examine the evolution of the optic nerve pit, the visual acuity and visual fields as well as the changes in the detached retina over a long follow-up period.
Materials and Methods The present paper studies the evolution of 16 cases with congenital pit of the optic nerve associated with persistent macular elevation (8/16 cases did not receive treatment, while 8/16 patients did not respond to laser treatment). The patients were examined during the period 1970-87. The followup ranged from 4-17 years. In 14/16cases the pit was located at the temporal margin of the optic disc while in 2/16 cases its location was central. In all but one case the disorder was unilateral. In order to facilitate evaluation of the changes studied we divided the 16 cases into the sub-groups A1 (untreated cases n = 8) and A2 (unsuccessfully treated cases n = 8). The 8 cases in sub-group A2 which were treated without absorption of the subretinal fluid belong to two distinct periods of treatment, viz. one case treated in 1970-75 and 7 cases in 1975-87. In the former, a single row of xenon arc photocoagulation (Zeiss) was applied in a c o d u e n t fashion adjacent to the temporal margin of the optic disc (Shutter was 1.5 495
and intensity varied between second and third gradations). In the subsequently treated 7 cases we used argon laser. The laser bums were applied in a double interrupted row along the temporal edge of the optic disc 200 pm+ 300 mW X 0.3 sec). We left the decision whether to submit to laser coagulation to our patients, having told them that there was a good chance that this would lead to absorption of retinal fluid and improved visual acuity. At the same time and according to the opinion then prevailing, we informed them that since the natural history of the disease is uncertain, the fluid might well be spontaneously resolved. ALI 16 studied patients were regularly examined every 9 to 12 months, each examination comprising color photography, fluorescein angiography and stereophotography of the fundus in the last 5 years. Visual acuity, visual fields and intraocular pressure were also checked.
Results Results of the first examination The results of the first examination regarding the characteristics of the optic disc, such as the size of
the pit, the coexistence of ciliary arteries with the pit, the fluorescein appearance of the pit, are set forth in Table 1. This table also provides details concerning the extent of macular elevation, as well as the structure and location of fluid concentration between the retinal layers or subretinally.The analysis of Table l shows that in 10/16 cases (62%)cilioretinal arteries were observed emerging either from the bottom of the cup in which the pit was located or from its margins. Fluorescein angiography at first examination revealed brightness of the pit in 8/10 and fluorescein leakage from the bottom and margins of the pit in 2/16 cases. Fluorescein brightness or leakage of the pit was observed in all the 10 cases where cilioretinal arteries were found in conjunction with the pit. In 6/16 cases where the congenital pit did not coexist with ciliary arteries, the pit appeared dark in fluorescein angiography (Figs. 1 and 2). At the time when the disease was diagnosed the macular detachment was found to be of varying extent, In 11/16 of the cases the elevation was confined to the area between the supratemporal and inferotemporal arcades, while in the remaining 5 cases it extented well beyond them. There was no
Table 1. Characteristicsof the optic disc and macular elevation at first examination (number of cases 16).
Case number 1 2 3 4 5 6
115 116 113 1I 5 115 116
7
117 115 115 1I4
8 9 10 11 12 13 14 15 16
114 115 116 1I 3 116 115
Yes Yes No Yes Yes Yes Yes Yes No No No Yes Yes Yes No No
b b d b b b b b d d d 1 1
b d d
SD SD SD SD SD Schisis Schisis Schisis SD SD Schisis Schisis Schisis Schisis Schisis Schisis
A B B B A A B A B B A B B B B B
b: brightness of the pit; 1: fluorescein leakage; d: dark appearance of the pit; SD: sensory detachment; A: beyond the arcades; B: into the acrades.
496
Fig. 1. Fluorescein angiography of a case with congenital pit of the optic disc which is associated with cilioretinal arteries. Note the course of the 2 cilioretinal arteries emerging from the bottom and margin of the optic pit. Fluorescein brightness of the pit appears in the arteriovenous phase.
Fig. 2. Same patient as in Fig. 1 in the late venous phase. Leakage from the bottom of the pit, from its margins and in the subretinal space near the optic disc is also evident.
Table 2. Characteristics and follow-up of cases with persistent macular elevation No. 16
Case number
Age at
Visual acuity
onset I sex
at first
examination
Sub-group A, (untreated cases n = 8) 1 22 I F 201200 201 80 2 28 I F 3 51 I M 201200 4 32 I M 101400 5 15 I F 201400 6 28 I M 201400 7 20 I M 201 80 8 29 I M 201400
Final visual acuity
Type of macular elevation
Duration of follow-up (Years)
201400 201400 201400 CF 201400 201400 201200 201400
SD SD SD SD SD Schisis Schisis Schisis
7 11 6 14 9 7 8 10
SD SD Schisis Schisis Schisis Schisis Schisis Schisis
5 14 11 17 12
Sub-group A, (cases no responsive to treatment n = 8) 9 171F 201400 HM 10 22 I M 201100 201200 31 I F 201400 201400 11 21 I F CF CF 12 101400 CF 13 29 I M 33 I F 201200 201200 14 15 23 I F ' 201200 201400 201200 201200 16 43 I M
5
10
7
SD: sensory detachment. 32
Acta Ophthal. 70.4
497
Fig. 3. Fluorescein angiography in a patient with congenital pit associated with macular elevation. Note the dimensions of the cup in which the pit is located and its partial brightness.
Fig. 4. The same case as Fig. 3,14 years later. Fluorescein angiography at the same magnificationand in the same phase (arteriovenous) shows an increase of the cup dimensions. There is also a marked increase of scarring at the temporal margin of the optic disc.
correlation to be observed between the sue of the cup and the extent of the macular elevation.Variations were noted in the structure and location of fluid concentration between the retinal layers and subretinally. In 9/16 cases the prevailing clinical impression was that the macular elevation was of the schisis type, i.e. separation of the inner layers of the retina caused by the fluid communicating with the optic nerve pit (Theodossiadis1977). The remaining 7 cases presented the picture of sensory macular elevation. Out of 9 cases with schisis-like appearance, 4 had a lamellar macular hole located at the outer layer. All holes were of irregular shape and featured ragged edges as described by Lincoff et al. (1988).Also, in 4/'7cases with sensory detachment, lamellar holes or cystic changes were present. Analysis of Table 2 reveals that initial visual acuity was found to be equal to or less than 20/200 in 13 out of all cases. The reduction of the initial visual acuity was directly related to the damage induced by the long-standing subretinal fluid. In all cases studied, it proved impossible to determine the time of first appearance of the subretinal fluid. In order to facilitate evaluation of the changes of
the optic disc, peripapillary area, detached retina and visual acuity, we separately examined each of them during the follow-up period.
498
Follow-up results Changesof the dimensions or color of the optic disc pit (sub-group A, and A2) In 5 of the 16 cases, whose follow-upperiod lasted from 10-17years (Table 3), we noted an increase of the dimensions of the cup in which the pit was located (Figs. 3 and 4). In another 4 cases w'+ the same or shorter follow-up period, certain alterations were observed concerning the color of the pit, the grayish hue of which appeared more pronounced (Figs. 5 and 6) (Table 3). In all these 9/16 cases (56%)with alterations of the dimensions or color of the cup, the intraocular pressure ranged from 14-15 mmHg during the follow-up years. In these 9 cases we also found a posterior vitreous detachment. It should be pointed out that the remainder of the optic disc showed no alterations. Changes in peripapillary area In 6 of the 8 untreated cases (sub-group A,) with macular elevation persisting for a lengthy period,
Fig.5. Color photograph of a case with congenital pit and macular elevation. The clinical impression is that of schisis-type. The pit is barely visible at the temporal margins of the optic disc (4 o’clock).
Fig. 6. The same case as Fig. 5, 17 years later. Note the increase of the cup dimensions as well as its altered color. The pit has also widened and has acquired a darker grayish hue. 499
Table3. Changes in the pit of the optic disc. Cases with pit and persistent macular detachment n = 16. Case number
Duration of follow-up (years)
Visual acuity at first examination
Increase of the dimensions of the cup*
Sub-group A, (untreated cases n = 8) 1 7 201200 2 11 201 80 3 6 201200 4 14 201400 5 9 101400 6 7 201400 7 8 201 80 8 10 201400
Yes
No No No No Yes No No No
No No No Yes No No Yes No
Yes Yes No No Yes No No No
No Yes No Yes No No No
Sub-groupA, (unsuccessfullytreated cases n = 8) 9 5 201400 10 14 201100 11 11 201400 12 17 CF 13 12 101400 14 5 20/200 15 10 201200 16 7 201200
-Alteration of the color of the cup*
* Where the pit is located.
changes were also discovered in the peripapillary area. In these 6 cases a chorioretinal scarringfFig. 7) or pigment accumulation was noted mainly at the temporal margins of the optic disc, phenomena which became more pronounced in the course of time. The pigment accumulation was also encountered in the margins of the macular elevation (Fig. 9) (Table 4). Pigment accumulation at the temporal part of the optic disc was observed in 3 of 8 cases (sub-group A,). Changes in the area of the detached macula
In all the 16 cases defects of the pigment epithelium in the detached macula were noted. These defects were directly related to the duration of the macular elevation and were more pronounced in cases where follow-up period exceeded 10 years. The window defects of the pigment epithelium, which were almost similar in schisis and in sensory detachment, spread over the entire area of the elevation,especially where the subretinal fluid was long established. In contrast to the window defects which covered the entire area of the elevation, pig500
ment dispersion and pigment accumulation were also observed and were mainly confiied to the margins of the elevation especially in its lower part (Figs. 9 and 10). An extension of macular elevation in the course of the follow-up period was also observed in 5/16 cases (Figs. 8-10) (Table 4).The total number of cases where the elevation'extended beyond the arcades covering the larger portion of the midperiphery was 10 out of 16 studied. In 5 of these 10 cases the extension beyond the arcades was observed at first examination. Spontaneous reattachment occurred in 2/16 cases. One of the 2 cases belong to the untreated group (sub-group Al), while the other was from the unsuccessfully treated group (sub-group A*}. In the latter instance the absorption of the subretinal fluid occurred 2 years after the laser intervention. However, the retina detached again, in the first case after 12 and in the second after 19 months. The study did not reveal any difference in the extension of elevation between the schisis and sensory type of detachment. The visual fields examination carried out during
Fig. Z Semicircular extensive scarring at the temporal margins of the optic disc in a case of congenital pit with a long-standing macular detachment of schisis-type.Observe the slight pigment accumulation at 5 o’clock meridian at the margins of the optic disc.
the follow-up in sub-group A, (untreated cases) disclosed scotomas in the central and peripheral part. These changes could be ascribed to the lesions of the optic disc and to the long standing damage of retina caused by the elevation (Fig. 11). Visual fields were obtained with the Humphrey
Duration Visual acuity Case of follow-up at first number (years) examination
perimeter 610 in cases where the visual acuity permitted the checking of the visual field (Fig. 11). Visual acuity (sub-group A, and A2)
In 5 of the 8 untreated cases (sub-groupA,) in 4 of the 8 cases which failed to respond to treatment
Type of macular elevation
Extension of the macular elevation
Scarring or pigment accumulation
a: Pigment accumulation at the margins of the optic disc. b: Scarring at the margins of the optic disc. c: Pigment accumulation at the margins of the macular elevation.
501
Fig. 8. A case of congenital pit with persistent macular elevation in 1972. The arrows point to the limits of the elevation.
Fig. 9. The same case as Fig. 8, in 1986. Note the extension of the retinal elevation which has occurred in the meantime. The extension involves mainly the temporal and inferior margins of the elevation and covers a sizable part of the posterior pole. Also note the extensive dispersion of the pigment epithelium which did not exist in 1972 and its accumulation at the peripheral parts of the elevation and at the temporal margins of the optic disc.
502
Fig. 10. Fluorescein angiography of the previous case (Fig. 9) which clearly shows the pigment epithelium defects and pigment concentration at the periphery.
(sub-groupA2),i.e. in a total of 9 of the 16 cases of both groups, we noted a reduction of visual acuity. In the remaining 7/16 cases visual acuity remained unchanged (Table 2).
Discussion Since the first description of the disease by Wiethe in 1882 some open questions still persist regarding the origin of the fluid, the type of macular elevation (Lincoff et al. 1988; Kranenburg 1960; Streiff 1944), the treatment modalities (Theodossiadis 1977, 1988; Lincoff et al. 1988; Wiethe 1882; Vogel & Wessing 1974; Brockhurst 1975; Kottow 1982; Annesley et al. 1987; Alexander & Billson 1984; Cox et al. 1988;Schatz & McDonald 1988)and especially the natural history of the disease. As it is known hitherto, the study of the natural history has been confined to the changes of visual acuity and alterations of the fovea. In the present investigations we focused our attention on some characteristics of the disease which were found at first examination. We also studied some aspects of the natural history of the disease which so far have not been sufficiently investigated or reported. The coexistence of ciliary arteries with the pit
and the emergence of the artery from the bottom of the pit seem to contribute to the appearance of the fluorescein brightness of the pit or fluorescein leakage from it. In the studied patients hyperfluorescence was noted only in cases where the pit coexisted with cilioretinal arteries (Figs. 1 and 2). The changes of the optic disc, involving mainly the dimensions of the cup in which the pit is located and the grayish discoloration of the cup, were observed in cases with persistent macular elevation (9/16 cases = 56%).Increased cup dimensions were related to the duration of the macular elevation and were found in cases where the persisting submacular fluid had been present for 10 years and more (Table 3). The discoloration and the increased dimension of the pit could well be due to the gradual decrease or disappearance of the glial tissue of the cup during the follow-up years, as a result of the constant flow of fluid through the pit. In the 6 of the 8 non-treated cases of persistent macular elevation (sub-group A,) the pigment accumulation at the edge of the optic disc or at the margins of the elevation was related to the duration of the macular detachment. This is a secondary phenomenon, the existence of which might be ascribed to the dispersion of the pigment epithe503
Fig. 11. Visual field of the same case as shown in Figs. 8-10 presenting the corresponding defects of the pigment epithelium.
lium and the spread of the pigment to the areas mentioned. Since the pigment accumulation was noted in patients with macular detachment of long standing (6 years and more), this fact could help us to assess the approximate time of onset of the macular elevation (Table 4). Quite frequently the macular elevation and the window defects of the pigment epithelium were very extensive. At first examination in 5 out of the total 16 cases the detachment extended beyond the arcades involving a large proportion of the posterior pole. A feature deserving mention is that at the follow-up,the macular elevation extended beyond the arcades in 5 more cases. Altogether in 10/16 patients (62%)the elevation extended as far
504
as the midperiphery covering the greater part of it. The extension created irreversible damage to the pigment epithelium in the entire area of the elevation. In these cases it might therefore be more apposite to replace the customary designation ‘Congenital pit associated with macular detachment’by the term ‘Congenital pit associated with detachment of the posterior pole’. Regarding initial visual acuity, it should be borne in mind that many of our patients presented poor visual acuity already at first examination because of the long previous existence of the disease (Table 2). Poor initial visual acuity has been reported also by other investigators (Lincoff et al. 1988; Cox et al. 1988; Schatz & McDonald 1988).
Concerning the difference of visual acuity between first and final examination we found that in 7/16 cases the visual acuity remained unchanged, while in the remaining 9/16 cases it was worse than initially. The difference, however, between final and initial visual acuity in 9 cases was negligible since the visual acuity had already been poor at first examination.
Acknowledgment The authors would like to thank Mrs. Maria Papantoniou for secretarial help.
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Kranenburg E W (1960): Crater-like holes in the optic disc and central serous retinopathy. Arch Ophthalmol 6 4 912-924. Lincoff H, Lopez R & Kreissig I et al. (1988): Retinoschisis associated with optic nerve pits. Arch Ophthalmol 106: 61-67. Regenbogen L, Stein R & Lazar M (1964): Macular and juxtapapillary serous retinal detachment associated with pit of the optic disc. Ophthalmologica 148: 247251. Schatz H & McDonald H R (1988):Treatment of sensory retinal detachment associated with optic nerve pit or coloboma. Ophthalmology 9: 178-186. StreB E B (1944): Affections maculaires associees a des carittes ou fossettes de la papille. Ophthalmologica 90: 90. Sugar H S (1964):An exploration for the acquired macular pathology associated with congenital pits of the optic disc. Am J Ophthalmol57: 833-835. Theodossiadis G P (1977): Evolution of congenital pit of the optic disc with macular detachment in photocoagulated and nonphotocoagulated eyes. Am J Ophthalmol84: 620-631. Theodossiadis G P (1988): Treatment of retinal detachment with congenital optic pit by krypton laser photocoagulation (Communication).Graefes Arch Clin Exp Ophthalmol226 299. Theodossiadis G P (1991): Visual acuity in patients with optic nerve pit (Letter). Ophthalmology 98: 563. Vogel M H & Wessing A (1974): Makulaverkderungen bei Grupenpapille. Klin Monatsbl Augenheilkd 164 90-97. Wiethe T (1882): Ein Fall von angeborener DBormitiit der Sehnervenpapille. Arch Augenheilkd 11: 14-19. Wise G, Dollery C & Henkind P (1971):Discifom macular disease. In: Wise G, Dollery C & Hankind P (eds). The Retinal Circulation. Harper & Row 471.
Received on December 9th, 1991. Author's address:
Professor G. P. Theodossiadis, 54, Omirou Street, 106 72 Athens, Greece.
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