Autosomal-dominant Fundus Flavimaculatus: Clinicopathologic Correlation

Pedro F. Lopez; Irene H. Maumenee; Zenaida de la Cruz; W. Richard Green

doi:10.1016/S0161-6420(90)32508-3

Autosomal-dominant Fundus Flavimaculatus: Clinicopathologic Correlation

Pedro F. Lopez, Irene H. Maumenee, Zenaida de la Cruz, W. Richard Green

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Abstract

The authors report the first clinicopathologic study of autosomaldominant fundus flavimaculatus with late-onset atrophic macular degeneration in a 62-year-old man. Results of histopathologic examination disclosed the retinal pigment epithelium (RPE) to be distended by a periodic acid-Schiff (PAS)-positive, acid mucopolysaccharide-negative material. Transmission electron microscopy showed marked accumulation of lipofuscin and melanolipofuscin granules within the RPE. The different modes of genetic transmission and ultrastructural heterogeneity suggest that fundus flavimaculatus is a clinical syndrome representing several genetically and mechanistically distinct disorders whose common endstage is a topographically similar accumulation of lipofuscin.

Original language	English (US)
Pages (from-to)	798-809
Number of pages	12
Journal	Ophthalmology
Volume	97
Issue number	6
DOIs	https://doi.org/10.1016/S0161-6420(90)32508-3
State	Published - Jan 1 1990

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0161-6420(90)32508-3

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title = "Autosomal-dominant Fundus Flavimaculatus: Clinicopathologic Correlation",

abstract = "The authors report the first clinicopathologic study of autosomaldominant fundus flavimaculatus with late-onset atrophic macular degeneration in a 62-year-old man. Results of histopathologic examination disclosed the retinal pigment epithelium (RPE) to be distended by a periodic acid-Schiff (PAS)-positive, acid mucopolysaccharide-negative material. Transmission electron microscopy showed marked accumulation of lipofuscin and melanolipofuscin granules within the RPE. The different modes of genetic transmission and ultrastructural heterogeneity suggest that fundus flavimaculatus is a clinical syndrome representing several genetically and mechanistically distinct disorders whose common endstage is a topographically similar accumulation of lipofuscin.",

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T1 - Autosomal-dominant Fundus Flavimaculatus

T2 - Clinicopathologic Correlation

AU - Lopez, Pedro F.

AU - Maumenee, Irene H.

AU - de la Cruz, Zenaida

AU - Green, W. Richard

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N2 - The authors report the first clinicopathologic study of autosomaldominant fundus flavimaculatus with late-onset atrophic macular degeneration in a 62-year-old man. Results of histopathologic examination disclosed the retinal pigment epithelium (RPE) to be distended by a periodic acid-Schiff (PAS)-positive, acid mucopolysaccharide-negative material. Transmission electron microscopy showed marked accumulation of lipofuscin and melanolipofuscin granules within the RPE. The different modes of genetic transmission and ultrastructural heterogeneity suggest that fundus flavimaculatus is a clinical syndrome representing several genetically and mechanistically distinct disorders whose common endstage is a topographically similar accumulation of lipofuscin.

AB - The authors report the first clinicopathologic study of autosomaldominant fundus flavimaculatus with late-onset atrophic macular degeneration in a 62-year-old man. Results of histopathologic examination disclosed the retinal pigment epithelium (RPE) to be distended by a periodic acid-Schiff (PAS)-positive, acid mucopolysaccharide-negative material. Transmission electron microscopy showed marked accumulation of lipofuscin and melanolipofuscin granules within the RPE. The different modes of genetic transmission and ultrastructural heterogeneity suggest that fundus flavimaculatus is a clinical syndrome representing several genetically and mechanistically distinct disorders whose common endstage is a topographically similar accumulation of lipofuscin.

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Autosomal-dominant Fundus Flavimaculatus: Clinicopathologic Correlation

Abstract

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