Phenotype #0000300075

Individual ID 00407945
Associated disease -
Phenotype details 2y: electroretinogram: nonrecordable, cycloplegic refraction: +3.25 in both eyes, dystrophic retina; 7y: best corrected visual acuity: 20/100; cycloplegic refraction: +6.50 -1.00 x 180, +7.00), exotropia of approximately 20delta; no voluntary eyelid elevation could be elicited, forced incomplete elevation (Bell phenomenon) in both eyes; other ductions full, no ptosis; fundus: dystrophic changes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset 0m
Phenotype/Onset poor vision since soon after birth
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-11 13:19:42 +02:00 (CEST)
Date last edited N/A

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