Phenotype #0000302488

Individual ID 00410384
Associated disease -
Phenotype details symptoms: central scotomata (29y) right amblyopia; presenting visual acuity right, left eye: 6/18, 6/9 (29y); current visual acuity right, left eye: 6/18, 6/12; fundus: bilateral bull's eye maculopathy and optic nerve head drusen (29y); fundus autofluorescence: bilateral perifoveal rings of increased autofluorescence surrounding mildly reduced foveal autofluorescence; electroretinogram: normal; pattern electroretinogram: undetectable; visual fields: bilateral central scotomata (29y); 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 32y (32 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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