Phenotype #0000301211

Individual ID 00409096
Associated disease -
Phenotype details progressive loss of visual acuity, color deficiencies, glare sensitivity (29 y); best corrected visual acuity right-left eye: 30/100-10/100; refractive error: +1.75/0; visual field: concentric constriction and central scotoma with small remaining central island right eye; remaining peripheral islands left eye; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment normal, slightly pale optic disc, narrowed vessels, sparse bone spicule hyperpigmentations in the mid periphery, well demarcated chorioretinal macular atrophy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 37y (37 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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