Phenotype #0000301219

Individual ID 00409104
Associated disease -
Phenotype details no perception of light; posterior subcapsular cataract; disc pallor and arterial attenuation; bone spicule pigmentation anterior and posterior to the equator with white dots in the outer retina anterior to the temporal vascular arcades
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 42y (42 years)
Age/Diagnosis -
Age/Onset <10y
Phenotype/Onset nyctalopia and loss of visual field
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-30 20:35:36 +02:00 (CEST)
Date last edited N/A

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