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Noemi Lois, Graham E. Holder, Frederick W. Fitzke, Catherine Plant, Alan C. Bird; Intrafamilial Variation of Phenotype in Stargardt Macular Dystrophy–Fundus Flavimaculatus. Invest. Ophthalmol. Vis. Sci. 1999;40(11):2668-2675.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To evaluate the intrafamilial phenotypic variation in Stargardt macular
dystrophy–Fundus flavimaculatus (SMD–FFM).
methods. Thirty-one siblings from 15 families with SMD–FFM were examined. Age
of onset, visual acuity, and clinical features on fundus examination
and fundus autofluorescence images, including presence or absence of
central and peripheral atrophy and distribution of flecks, were
recorded. In addition, electrophysiological studies were undertaken.
results. Large differences between siblings in age of onset (median, 12 years;
range, 5–23 years) were observed in six of the 15 families studied,
whereas in 9 families differences in age of onset between siblings were
small (median, 1 year; range, 0–3 years). Visual acuity varied two or
more lines among siblings in nine families. In 10 families (67%)
siblings were found to have different clinical appearance on fundus
examination and fundus autofluorescence images, whereas in 5 families
(33%), affected siblings had similar clinical features.
Electrodiagnostic tests were performed on affected members of 12
families and disclosed similar qualitative findings among siblings. In
nine families there was loss of central function only; in two, global
loss of cone function; and in one, global loss of cone and rod
conclusions. In this series, although differences in age of onset, visual acuity,
and fundus appearance were observed between siblings,
electrophysiological studies demonstrated intrafamilial homogeneity in
retinal function. The findings are difficult to reconcile with
expression studies showing ABCR transcripts in rod
photoreceptors but not in cones.
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