Phenotype #0000337186

Individual ID 00447997
Associated disease -
Phenotype details see paper; ..., 38y-nyctalopia, VA loss, photo-aversion OS; prior retinal detachments OD; refraction highly myopic; best corrected visual acuity OD no light perception (phthisis), OS 20/500 (38y); 38y-kinetic VF (OS) two temporal crescent islands (V4e target); 38y-static VF (OS) severely decreased sensitivity; 38y-pale disc, retinal vessel attenuation, macular and mid-peripheral atrophy with few bone spicules; 38y-OCT (OS) Loss of outer retinal structure, ERM, SHRM, choroidal atrophy; 38y-FA (OS) arm-to-eye time 35 sec, no vasculitis or disc leakage
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Susanne Roosing
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-09 14:03:00 +01:00 (CET)
Date last edited N/A

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