HEREDITARY P I G M E N T E D PARAVENOUS RETINOCHOROIDAL ATROPHY H A R O L D W. SKALKA, M. Birmingham,

Pigmented paravenous retinoehoroidal atrophy, an apparently rare disease, has been reported under several names, ineluding.retinoehoroiditis radiata, 1 ' 2 eongenital pigmentation of the retina, 3 parave­ nous retinal degeneration, 4 and melanosis of the retina. 5 Francesehetti 6 referred to the condition as pigmentary para­ venous chorioretinal degeneration, and subsequent authors have settled on the term "pigmented paravenous retinoeho­ roidal atrophy," 7 " 9 To my knowledge, fewer than two dozen cases have been reported, the largest series being the three cases of Pearlman and associates. 9 The fundus in this disorder shows sharply circumscribed bilateral patches of reti­ noehoroidal atrophy and pigmentation underlying retinal veins. Although some authors have attributed such an ap­ pearance to sequelae of inflammation, 10 others have not, despite evidence of pre­ vious generalized viral or syphilitic disease. Pearlman, Heckenlively, and Bastek 11 were the first to show progression (ophthalmoscopic and functional) of this dis­ ease with time. They noted increasing paravenous retinoehoroidal atrophy with decreasing peripheral fields and visual acuity in a patient with this disorder over a three-year period. To my knowledge, this is the first re­ ported evidence of genetic transmission of this entity.

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Alabama eration. The patient gave a history of cataracts, glaucoma, and retinal problems among men in his family, but other than his son (Case 2), no other members of this family could be examined. He had no history of ocular inflammatory disease, and a VDRL test was nonreactive. Chest x-ray film and residts of urinalysis, hematologic evaluation, and blood chemistry studies were unremarkable. A skin test for tuberculosis was negative. Best-corrected visual acuity with aphakic specta­ cles was R.E.: 6/15 (20/50) and L.E.: 6/6-(20/20-). Intraocular pressures were normal. External and slit-lamp examination was unremarkable except for the signs of bilateral intracapsular cataract extrac­ tions. Both fundi showed areas of paravenous choroidal atrophy with some pigmentation (Figs. 1 and 2). The intervening areas appeared unremarkable except for some early changes of lattice degeneration in both eyes. The vitreous of both eyes was clear, and no vascular sheathing or other evidence of prior intraocular inflammation was present. Fluorescein angiography (Fig. 3) revealed choridal as well as retinal pigment epithelial atrophy in sharply delim­ ited zones along the retinal veins. Visual fields (Fig. 4) showed scattered scotomas corresponding to the areas of chorioretinal change. Color vision was normal (Ishihara plates). Electroretinographic testing revealed slightly subnormal responses from both eyes, especially in the b-waves, under both photopic and scotopic

CASE REPORTS Case 1—A 48-year-old man with bilateral surgical aphakia was referred for evaluation of retinal degenFrom the Combined Program in Ophthalmology, University of Alabama in Birmingham-Eye Founda­ tion Hospital, Birmingham, Alabama. Reprint requests to Harold W. Skalka, M. D., 1720 Eighth Ave. So., Birmingham, Al 35233. 286

Fig. ] (Skalka). Case 1. Right eye shows para­ venous areas of retinoehoroidal atrophy and pig­ ment clumping.

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Fig. 4 (Skalka). Case 1. Visual fields of both eyes, showing isolated scotomas. Location of scotomas generally corresponds to areas of visible chorioretinal atrophy.

Fig. 2 (Skalka). Case 1. Left eye shows area of similar paravenous changes.

conditions (Fig. 5). The response to 30 cycle/second flicker stimuli was maintained. Implicit times were measured from 128 computer-averaged skin elec­ trode photopic electroretinographic responses re­ corded by a clinical averager, 12 and were only mar­ ginally prolonged (about two standard deviations

Fig. 3 (Skalka). Case 1. Right eye, arteriovenous phase of fluorescein angiogram of fundus area shown in Figure 1. Sharply delimited areas of para­ venous choroidal and retinal pigment epithelial at­ rophy are clearly visible.

greater than normal in both eyes). Electrooculographic testing revealed markedly abnormal ratios of 1.00 in each eye (normal, greater than 1.80). Goldmann-Weekers dark adaptometry (integral dark adaptation of the whole retina) of the left eye (Figs. 6 and 7) revealed a normal cone-rod break time, but elevated cone and final rod thresholds. A diagnosis of pigmented paravenous retinochoroidal atrophy was made. Case 2—The 17-year-old son of the patient de­ scribed in Case 1 was in good health and subjec­ tively asymptomatic. There was no history of ocular disease or trauma. Uncorrected visual acuity was R.E.: 6/18- (20/60-), correctable to 6/4.5 (20/15) with -1.75 sphere; L.E.: 6/4.5 (20/15). External and slit-lamp examina­ tion was unremarkable. The fundi showed scattered areas of paravenous retinal pigment epithelial atro­ phy (Fig. 8). There was no other evidence of vitreous or retinal disease. Fluorescein angiography showed

Fig. 5 (Skalka). Case 1. Right eye, scotopic high intensity white stimulus (Cambridge electroretino­ graphic protocol).'Normal a-wave amplitude greater than 150 (J.V, b-wave amplitude greater than 250 n-V.

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Fig. 6 (Skalka). Normal adult integral dark adapta­ tion curve.

findings similar to, but milder than those found in Case 1 (Fig. 9). The choroidal vasculature underly­ ing the areas of atrophic retinal pigment epithelium appeared basically intact. Goldmann fields showed only mild constriction to I 2 and I 4 isopters. Color vision was normal (Ishihara plates). Electroretinographic testing revealed photopic responses of low normal amplitude in both eyes (Fig. 10), with preservation of response to 30 cycle/second flicker. Scotopic responses were slightly subnormal in both eyes (both a- and b-waves). Computer-averaged oscilloscopically recorded fawave implicit times were minimally prolonged in both eyes (greater than two standard deviations). Electro-oculographic testing revealed normal ratios R.E.: 2.19 and L.E.: 2.00. Integral GoldmannWeekers dark adaptometry left eye revealed elevated cone and final rod thresholds (Fig. 11). A diagnosis of hereditary pigmented paravenous retinochoroidal atrophy was made. DISCUSSION

Fig. 8 (Skalka). Case 2. Right eye shows para­ venous changes.

sented by Pearlman and associates, 9 and the possible case of Amalric and Schum. 15 Electrophysiologic findings, although scant, imply reduced electroretinographic voltages, variable electro-oculographic ratios (normal, borderline, and abnormal), and variable dark adaptation thresholds. Our patients had findings consistent with previous descriptions.

Most reported cases of hereditary pig­ mented paravenous retinochoroidal atro­ phy were diagnosed on morphologic grounds alone. Electrophysiologic testing has rarely been performed. Exceptions include the case reports of Chisholm and Dudgeon, 8 Bee and associates, 13 Miller and associates, 14 one of the cases pre-

Fig. 7 (Skalka). Case 1. Left eye, dark adaptometry shows elevated thresholds.

Fig. 9 (Skalka). Case 2. Arteriovenous phase angiogram of area shown in Figure 8.

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Fig. 10 (Skalka). Case 2. Left eye, photopic re­ sponse to Cambridge high intensity white stimulus. Normal a-wave amplitude greater than 25 |xV, normal b-wave amplitude greater than 75 |xV.

Previous reports have noted variable constriction of visual fields, with some patients showing scotomas appropriate for their fundus appearance. Similar findings are apparent in the cases report­ ed here. Direct male-to-male transmission im­ plies either dominant or autosomal reces­ sive inheritance. The apparent rarity of this condition, and the absence of any consanguinity in the family of our pa­ tients argues against recessive inheri­ tance. Families of most other reported cases have not been examined (for exam­ ple, see Chisholm and Dudgeon 8 ), and the mild symptoms may not encourage patients to seek ophthalmologic consulta­ tion. Indeed, most reported cases have

Fig. 11 (Skalka). Case 2. Left eye, dark adaptometry shows elevated thresholds.

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been detected incidentally on routine ex­ amination. Dominant inheritance is often associat­ ed with variable penetrance and expres­ sivity, and such variability may further obscure the mode of transmission among affected men. Most patients who have been examined electrophysiologically have been in the second or third decade of life. Despite the relative uniformity of age, the variability of reported electroretinographic responses, electro-oculographic ratios, and dark adaptation thresh­ olds among these patients is evidence for variable expressivity. All but three reported cases have oc­ curred in men. One 36-year-old woman, the case reported by Hsin-Hsiang, 2 had previously required treatment for syphi­ lis, and unilateral episcleritis and uveitis. Bilateral arteriolar sheathing was present; Hsin-Hsiang attributed the etiology of this case to inflammation (prior periphlebitis and arteritis). The second woman, a 37-year-old described briefly and anecdotally by Law, 16 is referred to by Franceschetti 6 as an "atypical" case. The patient of Amalric and Schum, 1 4 a 19-year-old woman observed for ten years with no progression of fundus changes, had an esotropic, amblyopic eye (the only one illustrated), lacks the sharply edged areas of involvement usually seen in this condi­ tion, and has not been evaluated serologically. Although it is rare, direct male-tomale transmission via the Y chromosome is known to occur in man as well as animals (for example, the phenotype of hairy ears 17 ). The possibility of such transmission in hereditary pigmented paravenous retinochoroidal atrophy is in­ triguing. As previously noted, Pearlman, Heckenlively, and Bastek 11 have shown pig­ mented paravenous retinochoroidal atro­ phy to be a progressive disease. Earlier reports, although speculating freely con-

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cerning possible causes (for example, dysgenesis of the pigment epithelium and inflammation), had not seriously ques­ tioned whether detectable changes were stationary or progressive over time. The elevated dark-adaptation thresh­ olds in both of our patients and the ab­ normal electro-oculographic ratios in the father (Case 1) are evidence of diffuse involvement. Although electroretinographic amplitudes were only slightly re­ duced (a finding not inconsistent with dominantly inherited forms of incom­ plete retinitis pigmentosa, for example, the sectorial form), implicit times were slightly prolonged. 12 As stated by Berson 18 . . . normal cone and rod implicit times have been observed without exception in patients with focal or stationary retinal disease. . . . In contrast, delays in the cone or rod b-wave implicit times or both, when measurable, have been demonstrated without exception in all patients with progressive forms of retinitis pigmentosa.

This factor has not been previously evalu­ ated in patients with pigmented paravenous retinochoroidal atrophy. Fluorescein studies of young patients with this entity show retinal pigment epi­ thelial atrophy with preservation of choroidal vasculature underlying the atrophic retinal pigment epithelium. 8 ' 1 5 In older patients with more advanced disease, choroidal atrophy has been noted in the involved areas. 9 The patient described in Case 2 showed only retinal pigment epi­ thelial atrophy whereas his father, with clinically more advanced disease, also showed underlying choroidal atrophy. Other reports generally agree that this disease involves the retinal pigment epi­ thelium first, with secondary atrophy of underlying choroidal vasculature. Such relative sparing of the choriocapillaris in early disease is a feature of retinitis pig­ mentosa. 19 Pigmented paravenous retinochoroidal atrophy may be considered another in­

MARCH, 1979

complete, self-limited form of retinitis pigmentosa. This entity may be more common than has been reported if poten­ tially subclinical levels of expression are included. SUMMARY

A father and son with pigmented para­ venous retinochoroidal atrophy demon­ strated the classical fundus appearance of bilateral sharply circumscribed patches of retinochoroidal atrophy and pigmenta­ tion along the retinal veins. Our patients, and the preponderance of males in previ­ ously reported cases of this disease, sug­ gest the possibility of Y-chromosome me­ diated male-to-male transmission. Electrophysiologic findings in our pa­ tients included elevated dark-adaptation thresholds, slightly reduced electroretinographic amplitudes, slightly prolonged a- and b-wave implicit times, and (in Case 1) abnormal electro-oculographic ratios. These findings indicate a diffuse tapetoretinal degeneration, and suggest that pig­ mented paravenous retinochoroidal atro­ phy is another incomplete form of retini­ tis pigmentosa. REFERENCES 1. Brown, T. H.: Retinochoroiditis radiata. Br. J. Ophthalmol. 21:645, 1937. 2. Hsin-Hsiang, C : Retinochoroiditis radiata, Am. J. Ophthalmol. 31:1485, 1948. 3. Morgan, O. G.: Congenital pigmentation of the retina. Proc. R. Soc. Med. 41:726, 1948. 4. Weve, H.: Degeneratio retinae paravenosa, Mod. Probl. Ophthalmol. 1:664, 1957. 5. Brognoli, C : Sopra un case di pigmentazione anomala del fondo oculare (melanosi della retina). Arch. Ottal. 53:99, 1949. 6. 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. 7. Duke-Elder, S., and Dobree, J. H.: Diseases of the Retina. In Duke-Elder, S. (ed.): System of Oph­ thalmology, vol. 10. London, Henry Kimpton, 1967, p. 533. 8. Chisholm, I. A., and Dudgeon, J.: Pigmented paravenous retinochoroidal atrophy. Br. J. Ophthal­ mol. 57:584, 1973.

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9. Pearlman, J. T., Kamin, D. F., Kopelow, S. M., and Saxton, J.: Pigmented paravenous retinochoroidal atrophy. Am. J. Ophthalmol. 80:630, 1975. 10. Bucklers, ML: Retinitis pigmentosa nach Masern. Klin. Monatsbl. Augenheilkd. 108:380, 1942. 11. Pearlman, J. T., Hechkenlively, J. R., and Bastek, J. V.: Progressive nature of pigmented para­ venous retinochoroidal atrophy. Am. J. Ophthalmol. 85:215, 1978. 12. Skalka, H. W.: Computer-averaged ERG's using skin electrodes. Proceedings of the 16th ISCEV Symposium. Jpn. J. Ophthalmol. In Press. 13. Bee, M. P., Arne, J. L., Philippot, V., and Secheyron, P.: Degenerescence chorio-retinienne para-veineuse pigmentee. Bull. Soc. Ophtalmol. Fr. 76:1163, 1977. 14. Miller, S. A., Stevens, T. S., Myers, F., and

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Nieder, M.: Pigmented paravenous retinochoroidal atrophy, Ann. Ophthalmol. 10:867, 1978. 15. Amalric, P., and Schum, U.: Pigmentierte, paravenose Netz-und Aderhautatrophie. Klin. Monatsbl. Augenheilkd. 153:770, 1968 16. Law, F., in discussion, Morgan, O. G.: Con­ genital pigmentation of the retina. Proc. R. Soc. Med. 41:727, 1948. 17. Suzuki, D. T., and Griffiths, A. J. F.: An Introduction to Genetic Analysis. San Francisco, W. H. Freeman & Co., 1976, p. 36. 18. Berson, E. L.: Retinitis pigmentosa and allied retinal diseases. Electrophysiologic findings. Trans. Am. Acad. Ophthalmol. Otolaryngol. 81:659, 1976. 19. Archer, D. B., Krill, A. E., and Ernest, J. T.: Choroidal vascular aspects of degenerations of the retinal pigment epithelium. Trans. Ophthalmol. Soc. U. K. 92:187, 1972.

O P H T H A L M I C MINIATURE

Visceral Larva Migraine—Persons suffering from worms often experience extraordinary appearances in the eye, sometimes sparks of fire, sometimes spectres of light, sometimes frightful figures, which they cannot by an effort of the will cease to see: sometimes these appearances are double. Johann Wolfgang von Goethe, Theory of Colours Translated from German with notes by Charles Lock Eastlake. Cambridge, Massachusetts, M.I.T. Press

Hereditary pigmented paravenous retinochoroidal atrophy.

HEREDITARY P I G M E N T E D PARAVENOUS RETINOCHOROIDAL ATROPHY H A R O L D W. SKALKA, M. Birmingham, Pigmented paravenous retinoehoroidal atrophy, a...
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