Phenotype #0000302489

Individual ID 00410385
Associated disease -
Phenotype details symptoms: photophobia (since childhood); presenting visual acuity right, left eye: 6/5, 6/5 (34y); current visual acuity right, left eye: 6/6, 6/6; fundus: bilateral bull's eye maculopathy (34y); fundus autofluorescence: bilateral “bull’s eye’ lesions: ring of decreased perifoveal autofluorescence bordered peripherally > centrally by annuli of increased autofluorescence; electroretinogram: normal (35y); pattern electroretinogram: markedly reduced; visual fields: bilateral central scotomata (34y); color vision: mild generalized dyschroma
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy
Age/Examination 44y (44 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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