Phenotype #0000301393

Individual ID 00409276
Associated disease -
Phenotype details severely attenuated retinal vessels throughout the entire fundus; maculae of both eyes severely affected showing unusually prominent and deep macular colobomas devoid of neuroretinal tissue; electrophysiological responses of rod and cone photoreceptors: severely reduced; no light perception
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-06 11:44:59 +02:00 (CEST)
Date last edited N/A

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