Global Variome shared LOVD

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Phenotype #0000302481 Individual ID 00410377 Associated disease - Phenotype details symptoms: subcapsular cataract (50y) night blindness (58y); presenting visual acuity right, left eye: 6/6, 6/6 (39y); current visual acuity right, left eye: 6/7.5, 6/7.5 (50y), 6/12, 6/15 (58y); fundus: bull's eye maculopathy (50y) macular atrophy left eye (58y) right eye (62y) peripheral pigment (55y) attenuated arteries (58y) ; fundus autofluorescence: not performed; electroretinogram: undetectable rod and cone responses (55y); pattern electroretinogram: not performed; visual fields: right eye 60deg / left eye 50deg (58y); color vision: not performed Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy Age/Examination 60y (60 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 2022-05-25 12:22:20 +02:00 (CEST) Date last edited N/A

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