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Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous <b><i>CDH3</i></b> Pathogenic Variation

Nasser, Fadi ; Kempf, Melanie ; Kurtenbach, Anne ; Stöhr, Heidi ; Weber, Bernhard H. F. ; Neuhaus, Christine ; Rating, Philipp ; Zrenner, Eberhart



Zusammenfassung

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 ...

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