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Pattern dystrophies of the retinal pigment epithelium

The study of three generations in a family

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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.

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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

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