Abstract
The eyes of two brothers with retinitis pigmentosa were removed after death and examined by a variety of techniques, including conventional histology, fluorescence microscopy and both scanning and transmission electron microscopy. Their condition was considered to be of an autosomal dominant type but with some atypical clinical features. The outstanding histological feature in both pairs of eyes was a predominantly acellular deposit of amorphous material situated between the retinal pigment epithelium and Bruch's membrane. This material extended from the disc to beyond the ora serrata. In some regions of the retinae of both brothers, there was a cellular infiltrate into the deposit and this included multinucleate cells. In one brother the deposit was lined externally by a fibrovascular membrane in some few locations. All retinae were degenerate, but all showed preservation of abnormally short and sparse photoreceptor cells in both the peripheral and macular areas. There was only patchy loss of the choriocapillaris, which could have been age-dependent rather than disease-dependent, and the remaining choroidal vessels were patent in all cases. The widespread distribution of the deposit is unusual and suggests that it arises from disordered metabolism of the retinal pigment epithelium. We could not determine whether it was a primary disease process or if it arose as a secondary phenomenon.
Similar content being viewed by others
References
Ashton N, Sorsby A (1951) Fundus dystrophy with unusual features. Br J Ophthalmol 35:751–764
Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips CI, McKeown CME, Jay M, Bird AC, Pearson PL, Southern EM, Evans HJ (1984) Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309:253–255
Bird AC, Marshall J (1982) Retinal receptor disorders without known metabolic abnormalities. In: Garner A, Klintworth GK (eds) Pathobiology of ocular disease. Marcel Dekker, New York Basel, pp 1167–1220
Boulton M, Marshall J, Mellerio J (1983) Retinitis Pigmentosa: A preliminary report on tissue culture studies of retinal pigment epithelial cells from eight affected human eyes. Exp Eye Res 37:307–313
Cogan DG (1950) Primary chorioretinal aberrations with night blindness. Trans Am Acad Ophthalmol Otolaryngol 54:629–661
Collins ET (1913) A pathological report upon a case of Doyne's choroiditis. Ophthalmoscope 11:537–538
Eicholtz W (1974) Histologic der retinopathia pigmentosa cum et sine pigments. Klin Monatsbl Augenheilkd 164:475
Fishman G (1980) Hereditary retinal and choroidal diseases: electroretinogram and electrooculogram findings. In: Peymen GA, Sanders DR, Goldberg MF (eds) Principles and practice of ophthalmology. WB Saunders, Philadelphia, pp 857–904
Foos RY, Trese MT (1982) Chorioretinal juncture. Vascularisation of Bruch's membrane in peripheral fundus. Arch Ophthalmol 100:1492–1503
Friedman E, Smith TR, Kuwabara T (1963) Senile choroidal vascular patterns and drusen. Arch Ophthalmol 69:220–230
Gartner S, Henkind P (1982) Pathology of retinitis pigmentosa. Ophthalmology 89: 1425–1432
Hogan MJ, Alvarado J (1967) Studies on the human macula. IV. Aging changes in Bruch's membrane. Arch Ophthalmol 77:410–420
Jay B, Bird AC, Jay M (1978) The incidence of the different genetic forms of retinitis pigmentosa. Doc Ophthalmol 17:313–318
Killingsworth MC, Sarks SH (1982) Giant cells in disciform macular degeneration of the human eye. Micron 13:359–360
Klein BA (1964) Some aspects of classification and differential diagnosis of senile macular degeneration. Am J Ophthalmol 58:927–939
Kolb H, Gouras P (1974) Electron microscopic observations of human retinitis pigmentosa. Invest Ophthalmol Vis Sci 13:487–498
Lucas DR (1956) Retinitis pigmentosa. Pathological findings in two cases. Br J Ophthalmol 40:14–23
Lyness AL, Ernst W, Quinlan MP, Clover GM, Arden GB, Carter RM, Bird AC, Parker JA (1985). A clinical psychophysical electroretinographic survey of patients with autosomal dominant RP. Br J Ophthalmol (in press)
Massof RW, Finkelstein D (1981) Two forms of autosomal dominant primary RP. Doc Ophthalmol 51:289–346
Meyer KT, Hekenlively JR, Spitznas M, Foos RY (1982) Dominant retinitis pigmentosa. A clinicopathological correlation. Ophthalmology 89:1414–1424
Mizuno K, Nashida S (1967) Electron microscopic studies of human retinitis pigmentosa. Am J Ophthalmol 63:791–803
Santos-Anderson RM, Tso MOM, Fishman GA (1982) A histopathological study of retinitis pigmentosa. Ophthalmic Paediatr Genet 1:151–168
Sarks SH (1973) New vessel formation beneath the retinal pigment epithelium in senile eyes. Br J Ophthalmol 57:951–965
Sarks SH (1976) Aging and degeneration in the macular region. A clinicopathological study. Br J Ophthalmol 60:324–341
Sarks SH, Van Driel D, Maxwell L, Killingsworth M (1980) Softening of drusen and subretinal neovascularization. Trans Ophthalmol Soc UK 100:414–422
Szamier RB, Berson EK (1977) Retinal ultrastructure in advanced retinitis pigmentosa. Invest Ophthalmol Vis Sci 16:947–962
Szamier RB, Berson EL, Klein R, Meyers S (1979) Sex linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium. Invest Ophthalmol Vis Sci 18: 145–160
Verhoeff FH (1931) Microscopic observations in a case of retinitis pigmentosa. Arch Ophthalmol 5:392–407
Wolter JR (1957) Retinitis pigmentosa. A histopathologic study with a new technique. Arch Ophthalmol 57:539–553
Wolter JR, Falls HF (1962) Bilateral confluent drusen. Arch Ophthalmol 68: 219–226
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Duvall, J., McKechnie, N.M., Lee, W.R. et al. Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa. Graefe's Arch Clin Exp Ophthalmol 224, 299–309 (1986). https://doi.org/10.1007/BF02143075
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02143075