Phenotype #0000315299

Individual ID 00424092
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/400, 20/400; retinography: central retinal pigment epithelium atrophy with bone spicules in the periphery; fundus autofluorescence: central hypofluorescence due to geographic atrophy; optical coherence tomography: neurosensorial macular atrophy; full-field electroretinogramabolished photopic and scotopic respo
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
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 2022-11-16 20:34:22 +01:00 (CET)
Date last edited N/A

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