Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation

Abstract We present here the case histories of two siblings, a boy and a girl, with Leber’s congenital amaurosis (LCA). The diagnosis was based on non-recordable full-field electroretinogram (ffERG). The long-term ophthalmologic follow-up included kinetic perimetry (Goldmann), visual evoked potentia...

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Veröffentlicht in:	Case Reports in Ophthalmology 2023-01, Vol.14 (1), p.454-461
Hauptverfasser:	Jánossy, Ágnes, Vizvári, Eszter, Lőrincz, Máté, Pál, Szilvia, Nagy, Dóra, Benedek, György, Tóth-Molnár, Edit, Janáky, Márta
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Case Report Case reports electrophysiology Gene mutations Genetic aspects Genetic disorders Genetic screening Genetic testing genetic treatment hereditary retinal dystrophy leber’s congenital amaurosis Mutation optical coherence tomography Patients Retina Retinal degeneration Siblings Visual acuity
Online-Zugang:	Volltext
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