Phenotype #0000301335

Individual ID 00409217
Associated disease -
Phenotype details night blindness: 5y, visual field constriction: 16y, decreased visual acuity: 20y; ophthalmic examination: best corrected visual acuity right, left eye: counting fingers/10, counting fingers/20, slit lamp: mild cataract, visual field: not detectable, fundus: paravascular bone spicule pigmentation, retinal pigment epithelium atrophy, pale disc, arteriolar constriction, optical coherence tomography: extensive ellipsoid band loss, retinal pigment epithelium thinning, fundus autofluorescence: extensive hypofluorescence in the posterior pole, 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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