Phenotype #0000302482

Individual ID 00410378
Associated disease -
Phenotype details symptoms: photopsia (35y) reading difficulties (45y) night blindness (46y) visual field loss (58y); presenting visual acuity right, left eye: 6/6, 6/6 (19y); current visual acuity right, left eye: hand movement, 6/6 (46y)<6/120<6/120 (56y); fundus: bull's eye maculopathy (46y) macular atrophy (56y) peripheral pigment (46y) attenuated arteries (58y) pale disc (58y); fundus autofluorescence: macular ring; electroretinogram: moderately reduced rod responses, mildly reduced cone responses (46y); pattern electroretinogram: not performed; visual fields: normal (46y), right eye complete loss / 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 58y (58 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-25 12:22:20 +02:00 (CEST)
Date last edited N/A

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