Abstract
Three members of a family in one generation were affected by a pattern dystrophy of the retinal pigment epithelium. The patients present typical hyperpigmented macular RPE lesions in a butterfly-shaped to (macro-)reticular pattern, and were all asymptomatic. Examination of 26 family members in 3 generations suggests autosomal recessive inheritance. The family showed some cases of congenital deutanomaly, and a female subject presented both disorders.
Similar content being viewed by others
References
Gass, JDM. Stereoscopic Atlas of macular diseases: diagnosis and treatment, 3rd ed., St. Louis: CV Mosby, 1987: 246–55.
Newsome, DA. Retinal dystrophies and degenerations. New York: Raven Press, 1988: 195–205.
Ayazi, S, Fagan, R. Pattern dystrophy of the pigment epithelium. Retina 1981; 1: 287–89.
Hsieh, RC, Fine, BS, Lyons, JS. Patterned dystrophies of the retinal pigment epithelium, Archives Ophthalm March 1977; 95: 429–35.
Girard, P, Setbon, G, Forest, A, Coscas, G. Dystrophies en réseau de lépithelium pigmentaire (Dystrophies macroreticulaires et en aile de papillon). J Fr Ophtalm 1980; 3(2): 101–106.
Bastiaensens, LAK, Hoefnagels, KLJ. Patterned anomalies of the retinal pigment epithelium: dystrophy or syndrome? Doc Ophtalm 1983; 55: 17–29.
Pinckers, A, Cruysberg, JRM. Pattern dystrophy of the retinal pigment epithelium. Ophth Paed and Gen 1986; 7(1): 35–43.
Harto, MA, Salvador, A, Marin, F, Vilanova, ER, Menezo, JL. Dystrophies en réseau de lépithelium pigmentaire. Bull et Mém SFO 1986; 97: 491–95.
Marmor, MF, Byers, B. Pattern dystrophy of the pigment epithelium. A J Ophtalm 1977; 84: 32–44.
Guiffré, G. Autosomal dominant pattern dystrophy of the retinal pigment epithelium: intrafamilial variability. Retina 1988; 8: 169–73.
Deutman, AF, van Blommenstein, JDA, Henkes, HE, Waardenburg, PG, Solleveld-van Driest E. Butterfly-shaped pigment dystrophy of the fovea. Arch Ophthalm 1970; 83: 558–69.
Prensky, JG, Bresnick, GH. Butterfly-shaped macular dystrophy in four generations. Arch Ophthalm 1983; 101: 1198–1203.
Sjögren, H. Dystrophia reticularis laminae pigmentosae retinae: an earlier not described disease. Acta Ophthalm (Kbh) 1950; 28: 279–95.
Deutman, AF, Rümke, AML. Reticular dystrophy of the retinal pigment epithelium. Arch Ophthalm 1969; 82: 4–9.
Fishman, GA, Woolf, MB, Goldberg, MF, Busse, B. Reticular tapeto-retinal dystrophy, as a possible late stage of Sjögren's reticular dystrophy. Br J Ophthalm 1970; 60: 35–40.
Kingham, JD, Fenzl, RE, Willerson, D, Aaberg, TM. Reticular dystrophy of the retinal pigment epithelium: a clinical and electrophysiologic study of three generations. Arch Ophthalm 1978; 96: 1177–84.
Chopdar, A. Reticular dystrophy of retina. Br J Ophth 1976; 60: 342–44.
Mesker, RP, Oosterhuis, JA, Delleman, JWA. Retinal lesions resembling Sjögren's Dystrophia Laminae Pigmentosae Retinae. (Perspectives in Ophthalmology 2) Amsterdam: Excerpta Medica, 1970: 40–45.
Vine, AK, Schatz, H. Adult-onset foveomacular pigment epithelial dystrophy. Am J Ophthalm 1980; 89: 680–91.
De Laey, JJ, Pathak, A. Adult-onset vitelliform lesions: a dystrophic or degenerative process? Bull Soc Belge Opht 1983; 206: 69–83.
O'Donnell, FE, Schatz, H, Reid, P, Green, R. Autosomal dominant dystrophy of the retinal pigment epithelium. Arch Ophthalm 1979; 97: 680–83.
Streicher, T, Sverak, J, Peregrin, J, Vesely, F. ‘Cogwheel’ maculopathy: a new form of pattern dystrophy? Klin Mbl Augenheilk 1987; 191: 481–83.
Guiffré, G, Lodato, G. Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family. Br J Ophthalm 1986; 70: 526–32.
Cardillo Piccolino, F, Zingirian, M. Pattern dystrophy of the retinal pigment epithelum with vitelliform macular lesion: evolution in ten years. Int Ophthalm 1988; 11: 207–17.
Lodato, G, Guiffré, G. Associations inusuelles dans les dystrophies en réseau. J Fr Ophthalm 1985; 8(2): 147–54.
Gutman, I, Walsh, JB, Henkind, P. Vitelliform macular dystrophy and butterfly-shaped epithelial dystrophy: a continuum? Br J Ophthalm 1982; 66: 170–73.
Delleman, JW, de Jong, PTVM. Pigment epithelial pattern dystrophy: a peripheral type. Br J Ophthalm 1985; 69: 754–57.
Wakabayashi, K, Konemura, D, Kawasaki, K. Electro-physiological analysis of Best's macular dystrophy and retinal pigment epithelial pattern dystrophy. Opht Paed and Gen 1983; 3(1): 13–17.
Deutman, AF. Electro-oculography in families with vitelliform dystrophy of the fovea: detection of the carrier state. Arch Ophthalm 1969; 81: 305–16.
Chew, EY, Deutman, AF. Pigment dispersion syndrome and pigmented pattern dystrophy of retinal pigment epithelium. Br J Ophthalm 1983; 67: 538–41.
Burgess, D. Subretinal neovascularisation in a pattern dystrophy of the retinal pigment epithelium. Retina 1981; 1: 151–55.
Bresnick, GH, Smith, VC, Pokorny, J. Autosomal dominantly inherited macular dystrophy with preferential short-wave-length sensitive cone involvement. Am J Ophthalm 1989; 108: 265–76.
Amantia, L, Randone, M: Dystrophie familiale de Pépithelium pigmentaire maculaire d'aspect insolite. Bull et Mém S F O 1986; 97: 485–90.
Leonardy, NJ, Harbin, RL, Sternberg, P. Pattern dystrophy of the retinal pigment epithelium in a patient with McArdle disease. Am J Ophthalm 1988; 106(6): 741–42.
Klien, BA, Krill, AE. Fundus flavimaculatus: clinical, functional and histopathologic observations. Am J Ophthalm 1967; 64(1): 3–23.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kempeneers, H.P., Dewachter, A. & Kempeneers, G.M. Pattern dystrophies of the retinal pigment epithelium. Doc Ophthalmol 76, 261–272 (1990). https://doi.org/10.1007/BF00142685
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00142685