Phenotype #0000337191

Individual ID 00448002
Associated disease -
Phenotype details see paper; ..., 40y-nyctalopia; refraction OD -5.0/-4.00x5, OS -3.25/-4.50x50; best corrected visual acuity OU 20/63 (50y); 50y-GVF (OU) constricted (V4e and I4e targets); full field ERG 50y-diminished cone and rod responses
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Susanne Roosing
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-09 14:03:00 +01:00 (CET)
Date last edited N/A

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