Phenotype #0000293251

Individual ID 00400211
Associated disease -
Phenotype details Onset age for nigh blindness: 39, deafness: none, no vestibular defect, best corrected visual acuity (right/left eye): 0.15/0.5, full-field electroretinogram: extinguished rod and cone, optical coherence tomography: absent outer retina layers with severely thinning of the retina
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 40y (40 years)
Age/Diagnosis -
Age/Onset 39y
Phenotype/Onset night blindness
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-01-25 14:55:33 +01:00 (CET)
Date last edited N/A

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