Phenotype #0000303614

Individual ID 00411586
Associated disease -
Phenotype details current best corrected visual acuity right, left eye: 20/20 OU, 20/20; manifest refraction: Plano, ; Goldmann perimetry results: Superior loss with rim; reduction scotopic dim flash electroretinogram,%: 30.2; fundus findings: bone spicule-like pigmentation and atrophy; fundus findings: bone spicule-like pigmentation and atrophy in inferior and nasal distributions of midperiphery
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 35y7m (35 years, 7 months)
Age/Diagnosis -
Age/Onset 16y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-06-16 18:34:09 +02:00 (CEST)
Date last edited N/A

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