Phenotype #0000301212

Individual ID 00409097
Associated disease -
Phenotype details night blindness (21 y), field constriction (26 y), progressive loss of visual acuity (21 y), glare sensitivity, color deficiencies; best corrected visual acuity right-left eye: counting fingers-counting fingers; refractive error: Myopia +3 D; visual field: concentric constriction and central scotoma with remaining peripheral islands; electroretinogram: no data; anterior segment and fundus: anterior segment normal, normal optic disc, narrowed vessels, sparse bone spicule hyperpigmentations in the mid periphery; round, well demarcated, partly confluent areas of chorioretinal atrophy and pigment clumping in the far periphery; well demarcated macular retinal pigment epithelium atrophy with hyperpigmentation
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
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 2022-04-30 20:17:24 +02:00 (CEST)
Date last edited N/A

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