PIGMENTED PARA VENOUS RETINOCHOROIDAL A T R O P H Y JEROME T. PEARLMAN, M.D.,
DAVID F. K A M I N , M.D., AND JOAN SAXTON,
STANLEY M. KOPELOW,
Los Angeles, California
In 1962, when writing about pigmented paravenous retinochoroidal atrophy, Franceschetti1 said "A rare affection often be comes less rare when given an appropriate name . . . in the hope of attracting attention . . . to elucidate (its) etiology by a greater number of observations." While we feel rea sonably certain that similar cases have been recognized and correctly diagnosed, this seems to be the first report of a series of pa tients in this country having this unusual de generation, in which zones of retinochoroidal atrophy characteristically follow the distribu tion of the major retinal vessels. CASE REPORTS Case 1—A 27-year-old white man, seen in con sultation in March 1974, complained of mild pain and decreased vision in the right eye of two weeks' duration. He noted involuntary closure of the right upper eyelid for approximately the same period of time. There was no family history of a similar dis order and no consanguinity in the genetic back ground. The patient had the usual childhood illnesses. Careful review of symptoms revealed mild photopsia, more marked on the right side. The corrected visual acuity was R.E.: 20/30-2, and L.E.: 20/20. External examination and slit-lamp findings were normal. Inspection of the fundus through dilated pupils revealed atrophic contiguous lesions, approximately 1 disk diameter in size, surrounding all major venous arcades (Fig. 1). The lesions were bilaterally symmetrical. Minimal pig ment deposition was seen along the venous walls im mediately adjacent to the atrophic paravenous areas. Perimetry studies revealed an enlarged blind spot in the left eye, and a significant constriction of the peripheral fields of both eyes, more marked on the right side (Fig. 2). Fluorescein angiography demon strated a window defect of choroidal atrophy with the hyperfluorescence characteristic of retinal pigment
epithelial degeneration (Fig. 3). There was no evi dence of fluorescein leakage beneath or within the neural epithelium at any stage of the angiogram. Color vision tests made with the H-R-R and Ishihara pseudoisochromatic plates were completed without error. Dark adaptometry was performed with a 1degree test object located IS degrees superior to fixa tion. Using a stimulus flashing on and off at onesecond intervals, there was a normal onset of the cone portion of the curve, together with a normal development of the rod portion. The final rod thresh old at 45 minutes was 1.0 log units above normal (Fig. 4). The electroretinographic (ERG) studies were made in our routine manner. After dark adaptometry, patients were dark adapted for an additional 45 minutes. Burian-Allen contact lens electrodes were inserted under red light illumination after the instil lation of proparacaine hydrochloride 0.05% ophthal mic solution for corneal anesthesia. White light stimuli of 20-msec duration recorded single and mul tiple flash responses. Patients with dark-adapted eyes under Maxwellian view received the flashes via op tical fibers from a tungsten lamp, with a Hartline shutter and a series of neutral density filters to vary stimulus intensity. Threshold responses were mea sured, beginning with subthreshold stimuli in single flashes. After a lapse of approximately 30 seconds, the next flash was presented. As the stimulus inten sity increased, the interval between single flashes lengthened to approximately one minute to insure the preservation of the dark-adapted state. Multiple flash (flicker) studies at the conclusion of each test ing session determined critical flicker fusion (CFF) values. The ERG responses were markedly abnormal in each eye. The first test yielded barely recordable b-waves of low amplitude (20 nV). A second test, obtained eight months later, demonstrated nonrecordable b-waves to single flashes of light.. Case 2—A 4-year-old white boy seen on routine preschool examination presented no specific ocular or visual complaints. Examination revealed normal visual acuity in each eye and fundus features similar to those seen in Case 1, consisting of bilaterally sym metrical pigmented paravenous retinochoroidal atrophic changes. Because the patient was young, it was difficult to document the fundus picture by fluo rescein fundus photography, or to perform any of the retinal tests employed in Case 1. The highly characteristic fundus appearance, however, identi fied the condition. Case 3—A 47-year-old man, seen in consultation in May 1974, had loss of central vision in the left eye since 1962, and the right eye since 1964. He com plained also of headaches, photopsia, and of seeing halos around lights. He had been examined many
From the Department of Ophthalmology, Visual Physiology Laboratory (Retina Service), Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California. This study was supported by Public Health Service research grant EY 00331 and EY 00021, from the National Institutes of Health. Reprint requests to Jerome T. Pearlman, M.D., Jules Stein Eye Institute, UCLA School of Medi cine, Los Angeles, CA 90024. 630
Fig. 1 (Pearlman and associates). Typical contiguous atrophic retinal pigment epithelial lesions along the distribution of the major venous arcades.
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Fig. 2 (Pearlman and associates). Goldmann fields showing constriction of inner isopters in both eyes, marked in right eye with an enlarged blind spot in the left eye. The largest isopter represents the IV« stimulus on the Goldmann perimeter; the next largest is the I« stimulus; the next is the L setting; and the smallest isopter is the Ij stimulus setting. times and was thought to have a variant type of pigmented paravenous retinochoroidal atrophy. He had a noncontributory ocular family history and a review of his medical history indicated that he had not undergone treatment for any serious illnesses. His best visual acuity was R.E.: 20/200, L.E.: hand motions. External examination revealed no sig nificant abnormality in either eye. Slit-lamp findings, including applanation tonometry, were normal. Ophthalmoscopic examination of the fundus through
dilated pupils showed extensive pigmented para venous retinochoroidal atrophy involving both eyes, with extensive bilateral posterior pole retinal degen eration. DISCUSSION
Few cases of this rare but most characteris tic condition have been described. Brown2 described the condition as "retino-choroiditis
Fig. 3 (Pearlman and associates). Window defect of the retinal pigment epithelium along venous branches. No leaks of dye were noted beneath or into neurosensory retina. Left, more central, while right is more peripheral and shows greater involvement farther out in the fundus.
AMERICAN JOURNAL OF OPHTHALMOLOGY
Fig. 4 (Pearlman and associate). Dark adaptation curve showing elevation of final rod threshold at 45 minutes by 1 log unit. This indicates a clinically significant degree of night vision disturbance. The dots and bars indicate the mean normal value for the laboratory ± 2 S.D.
radiata." Kraffel3 used the same descriptive title in 1955. Bucklers4 described a similar case and referred to it as pseudoretinitis pigmentosa following measles. Morgan,5 ob serving the same clinical entity, called it con genital pigmentation of the retina. Brognoli6 referred to it as melanosis of the retina, while WeveT named it paravenous retinal degen eration. In a review in 1962, Franceschetti1 commented that a case of Hsin-Hsiang's,8 among others, suggested a primary pathologic process, rather than a secondary or acquired one. Duke-Elder and Dobree9 found only six reported cases. Amalric and Schum10 re cently reported a case and Chisholm and Dudgeon11 did also, using fluorescein angiographic studies. Patients previously described have been male, between the ages of 11 and 47; two ex ceptions were a 37-year-old woman described by Law12 and a 36-year-old woman described by Hsin-Hsiang.8 Our youngest patient was 4 years old and our oldest was 47 years of age. The differential diagnosis includes other rare retinochoroidal atrophic processes, such as helicoid peripapillary chorioretinal atro phy, proliferating choroiditis, angioid streaks of the retina, and other retinochoroidal dis orders with peripapillary or radial atrophic lesions, or both.
The prognosis for vision in pigmented paravenous retinochoroidal atrophy is be lieved to be good with minimal field defects and rare impairment of central visual acuity. Contrary to this pattern, two of our patients (Cases 1 and 3) had widespread functional impairment of a progressive nature that may accompany this disorder and lead to serious visual disability. SUMMARY
Three male patients had paravenous pig mented retinochoroidal atrophy. Extensive retinal function tests showed characteristic retinal pigment epithelial abnormalities on fluorescein angiography. loss of peripheral vi sual fieldT diminution of the electroretinofrrapfiir h-wflYP, and f>\w>t*A
on dark adaptometry. The disease appears to be more progressive than previously indicated, and in late stages, may cause legal blindness through involve ment of the posterior pole. No treatment is known. REFERENCES 1. Franceschetti, A.: A curious affection of the fundus oculi: helicoid peripapillary chorioretinal degeneration. Its relation to pigmentary paravenous chorioretinal degeneration. Doc. Ophthalmol. 16: 81, 1962.
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2. Brown, T. H.: Retino-choroiditis radiata. Br. J. Ophthalmol. 21:64S, 1937. 3. Kraffel, G.: Beitrag zur chorioretinitis striata. Klin. Monatsbl. Augenheilkd. 127:664, 1955. 4. Bucklers, M.: Retinitis pigmentosa nach Masern. Klin. Monatsbl. Augenheilkd. 108:380, 1942. 5. Morgan, O. G.: Congenital pigmentation of the retina. Proc. R. Soc. Med. 41:726, 1948. 6. Brognoli, C.: Sopra un case di pigmentazione anomala del fondo oculare (melanosi della retina). Arch.Ottal. 53:99,1949. 7. Weve, H.: Degeneratio retinae paravenosa. Mod. Probl. Ophthalmol. 1:664,1957. 8. Hsin-Hsiang, C.: Retinochoroiditis radiata.
Am. T. Ophthalmol. 31:1485,1948. 9. Duke-Elder, S., and Dobree, J. H.: Diseases of the Retina. In Duke-Elder, S. (ed.): System of Ophthalmology, vol. 10. St. Louis, C. V. Mosby Co., 1967, p. 533. 10. Amalric, P., and Schum, U.: Pigmentierte, paravenose Netz- und Aderhautatrophie. Klin. Mo natsbl. Augenheilkd. 153:770,1968. 11. Chisholm, I. A., and Dudgeon, J.: Pigmented paravenous retinochoroidal atrophy. Br. J. Ophthal mol. 57:584,1973. 12. Law, F., in discussion, Morgan, O. G. Proc. R. Soc. Med. 41:727, 1948.
I am journeying, say, in the west of England. I cross a bridge over a stream dividing Devon from Cornwall. These two counties, each beautiful in its way, are quite unlike in their beauty; yet nothing happened as I stepped across the brook, and for a mile or two or even ten I am aware of no change. Sooner or later that change will break upon the mind and I shall be startled, awaking suddenly to a land of altered features. But at what turn of the road this will happen, just how long the small multiplied impressions will take to break into surmise, into conviction—that nobody can tell. Sir Arthur Quiller-Couch, On the Art of Writing G. P. Putnam's Sons, 1916