Phenotype #0000315293

Individual ID 00424086
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/40, 20/400; retinography: retinal pigment epithelium atrophy in the macular area, with no perimacular flecks; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo that extends nasally of the optic disc; optical coherence tomography: neurosensorial macular
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 36y (36 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 2022-11-16 20:34:22 +01:00 (CET)
Date last edited N/A

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