Global Variome shared LOVD

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Phenotype #0000305863 Individual ID 00413906 Associated disease - Phenotype details best corrected visual acuity: 20/20 for both patients, refraction spherical equivalent -0.50, right eye -1.75, left eye; minimal nuclear sclerotic lens changes; Goldmann kinetic perimetry (V4e, I4e) and standard electroretinogram: within normal limits; no coexisting systemic abnormalities or intake of retinotoxic medication; fundus appearance: typical for fundus albipunctatus - more clinical data in Marmor, 1977, 1990 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite fundus albipunctatus Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-25 15:29:29 +02:00 (CEST) Date last edited N/A

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