Phenotype #0000293321

Individual ID 00400282
Associated disease -
Phenotype details best-corrected visual acuity right/left eye (OD/OS): 0.4/0.3, cataract: yes (40y), macular degeneration: severe, optic disc: waxy, artery attenuation, pigment deposits, electroretinography: diminished<35deg/<45deg, hearing undetectable (age): no
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Retinitis pigmentosa
Age/Examination 51y (51 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset nyctalopia (30y)
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-01-26 14:10:36 +01:00 (CET)
Date last edited N/A

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