Phenotype #0000315377

Individual ID 00424182
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 1.2 / 1.5; fundus photographs: slightly retinal degeneration around arcade vessels; fundus autofluorescence imaging or fluorescein angiography: not done; optical coherence tomography: no abnormalities of outer retinal layers at fovea and disruption of almost all outer retinal layers at other area; central visual field: ring-shaped scotoma; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: nonrecordable DA3.0: nonrecordable DA10.0: not done DA200.0: not done LA3.0: nonrecordable 30hz flicker: nonrecordable
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 39y (39 years)
Age/Diagnosis -
Age/Onset 18y
Phenotype/Onset night blindness
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-11-18 12:57:37 +01:00 (CET)
Date last edited N/A

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