Phenotype #0000301336

Individual ID 00409218
Associated disease -
Phenotype details night blindness: 7y, visual field constriction: 24y, decreased visual acuity: 31y; ophthalmic examination: best corrected visual acuity right, left eye: 20/60, 20/80, slit lamp: normal, visual field: nasal and temporal defects, fundus: paravascular bone spicule pigmentation, retinal pigment epithelium atrophy, pale disc, arteriolar constriction, optical coherence tomography: peripheral ellipsoid band loss, peripheral retinal pigment epithelium thinning, fundus autofluorescence: hyperfluorescent ring in the macula, electroretinogram: extinguished
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 2022-05-05 14:21:41 +02:00 (CEST)
Date last edited N/A

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