Phenotype #0000301208

Individual ID 00409093
Associated disease -
Phenotype details night blindness (20 y), field constriction (22 y), progressive loss of visual acuity (30 y), glare sensitivity, photopsia; best corrected visual acuity right-left eye: light perception-hand movements; refractive error: no data; visual field: absolute scotoma; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment normal, normal optic disc, narrowed vessels, moderate bone spicule hp in the mid periphery, in the far periphery intensive pigment clumping and round, well demarcated areas of chorioretinal atrophy; macular retinal pigment epithelium atrophy with annular hyperpigmentation right eye and pigment clumping left eye, right eye: chorioretinal scar after traumatic retinal detachment
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 45y (45 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 2022-04-30 20:17:24 +02:00 (CEST)
Date last edited N/A

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