Article
Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation.
Ophthalmic research - 1 Jan 2020
Nasser Fadi, Kempf Melanie, Kurtenbach Anne, Stöhr Heidi, Weber Bernhard H F, Neuhaus Christine, Rating Philipp, Zrenner Eberhart
Abstract excerpt
OBJECTIVE: We report on two German siblings diagnosed with congenital hypotrichosis and juvenile macular dystrophy, an extremely rare syndrome affecting both hair growth and visual functions. METHODS: A detailed ophthalmological examination was carried out including fundus examination, visual acuity assessment, visual field determination, color vision testing, and electrophysiology (electroretinography [ERG])....
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