Phenotype #0000337184

Individual ID 00447995
Associated disease -
Phenotype details see paper; ..., 25y-abnormal retinal findings (incidental; nyctalopia, VA loss, 33y-color vision deficit; refraction OD -11.0/+1.00x120, OS -10/+1.5x65; best corrected visual acuity OU 20/32 (25y), OU 20/50 (33y), OD 20/60; OS 20/50 (37y); 25y-Goldmann VF (OU) ring scotoma;37y-Goldmann VF (OU) about 8 degrees remaining, temporal crescent island (V4e target); 25y-bone spicule pigment deposits in the mid-periphery; 33y-OCT (OU) visible photoreceptors central macula; 37y-OCT (OU) bruch membrane ruptures posterior pole; 38y-OCT (OU) small intact central island; full field ERG 25y-extinguished rod and diminished cone responses; 25y-faint posterior subcapsular cataracts; Cambridge Colour Test measurable protan and deutan thresholds with abolished tritan thresholds
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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