Phenotype #0000301338

Individual ID 00409220
Associated disease -
Phenotype details best corrected visual acuity: 20/20 both eyes; fundus: pale peripheral area with no obvious deposits at the posterior pole; visual field: central vision field residual both eyes; macular optical coherence tomography: normal; electroretinogram: extinguished responses with significant decline of a and b amplitudes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset 26y
Phenotype/Onset night blindness and narrow vision field
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-05 14:37:49 +02:00 (CEST)
Date last edited N/A

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