Phenotype #0000222700

Individual ID 00289068
Associated disease -
Phenotype details cortical cataracts, severely attenuated retinal vessels, retinal pigment epithelium atrophy with bone spicule and nummular pigmentation periphery, preserved posterior pole, absence optic disc pallor; visual acuity right 20/40, left 20/50; spherical equivalent right −4.38, left −5.25
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite RP86
Age/Examination 38y (38 years)
Age/Diagnosis -
Age/Onset 08y
Phenotype/Onset night blindness
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-02-28 19:35:53 +01:00 (CET)
Date last edited N/A

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