Phenotype #0000315383

Individual ID 00424188
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.4 / 0.3; fundus photographs: severely retinal degeneation with pigmentation at posterior pole including fovea; fundus autofluorescence imaging or fluorescein angiography: diffusely hypo-fluorescence patchy within macular and hyper-fluorescence around the area; optical coherence tomography: not done; central visual field: constricted central visual field by I-4e isopter within 5 degrees; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): not done
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset 10y
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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