Global Variome shared LOVD

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Phenotype #0000300658 Individual ID 00408541 Associated disease - Phenotype details visual acuity both eyes: hand movements; complete chorioretinal atrophy at each macula; retinal vessels thinned, pigmentation in the retinal periphery; rheumatological and general medical examination: normal apart from varicose veins and mild discomfort in the hip and shoulder; renal function: normal Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Sorsby fundus dystrophy Age/Examination 72y (72 years) Age/Diagnosis - Age/Onset 25y Phenotype/Onset loss of central acuity and night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-22 15:32:48 +02:00 (CEST) Date last edited N/A

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