Phenotype #0000270191

Individual ID 00374981
Associated disease -
Phenotype details 18y-night blindenss, diminished visual acuity (25y) and visual field (26y); best corrected visual acuity 0.4/0.1; ERG-bolished; pale optic disc, retina vessels attenuation and bone spicule pigmentation, macular unstructured and atrophy in left macula; color alteration, cataract (27y)
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 27y (27 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-27 16:02:07 +02:00 (CEST)
Date last edited N/A

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