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Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus

Lois, Noemi·2001·Archives of Ophthalmology

Abstract

OBJECTIVE: To determine if phenotypic subtypes exist in Stargardt macular dystrophy-fundus flavimaculatus (SMD-FFM). METHODS: A cross-sectional study of 63 patients with autosomal recessive SMD-FFM was undertaken. The age of onset, duration of symptoms, visual acuity, and clinical features on fundus examination, color fundus photographs, and fundus autofluorescence images were recorded. Electrophysiological tests, including pattern, focal, and full-field electroretinogram (ERG), electro-oculogram, and color-contrast sensitivity measurement, were also performed. RESULTS: Based on electrophysiological attributes (ERG), patients with SMD-FFM could be classified into 3 groups. In group 1, there was severe pattern ERG abnormality with normal scotopic and full-field ERGs. In group 2, there was additional loss of photopic function, and in group 3, there was loss of both photopic and scotopic function. Differences in scotopic or photopic function among groups were not explained on the basis of differences in age of onset or duration of disease. CONCLUSIONS: Patients with SMD-FFM can be classified into 3 groups based on the absence or presence of generalized loss of either photopic or photopic and scotopic function. It appears that these 3 groups may represent distinct phenotypic subtypes in SMD-FFM.

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Metadata

Authors
Lois, N.
Venue
Archives of Ophthalmology
Published
2001-03-01
Volume
119
Issue
3
Pages
359
ISSN
0003-9950 (ISSN-L)
OpenAlex
W2121918635
Cited by
334
References
19
FWCI
2.71
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus. https://app.cochat.ai/papers/10.1001/archopht.119.3.359
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Lois, N. (2001). Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus. Archives of Ophthalmology. https://doi.org/10.1001/archopht.119.3.359

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