Global Variome shared LOVD

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Phenotype #0000255924 Individual ID 00360519 Associated disease - Phenotype details visual acuity: handmovement in both eyes. Fundus: sharply demarcated chrioretinal atrophy in macula associated with mild retinal atrophyin the nasal area of both eyes. Fluorescein angiogram: sharply demarcated atrophy of RPE and choriocapilaris in both maculas, surrounded by granular hyperfluorescent areas in vascular arcades. In nasal retinas, combinations of hypo and hyperfluorescent areas were found. Diagnosis/Initial macular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset Reduced visual acuity Protein - Owner name Manon Peeters Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-06 16:50:09 +02:00 (CEST) Date last edited N/A

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