Phenotype #0000304387

Individual ID 00412382
Associated disease -
Phenotype details visual acuity right; left eye: 0.12,0.2; fundus change: optic papilla wax yellow, attenuated retinal arteries, pigment bone spicule-like; electroretinogram, rod: reduced markedly, cone: undetectable
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite retinitis pigmentosa
Age/Examination 38y (38 years)
Age/Diagnosis -
Age/Onset 36y
Phenotype/Onset poor vision
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-06-27 22:34:38 +02:00 (CEST)
Date last edited N/A

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