Phenotype #0000301238

Individual ID 00409123
Associated disease -
Phenotype details Best-corrected visual acuity right, left eye: 20/40, 20/50; refraction: mild myopia; no nystagmus, strabismus, or anterior segment abnormality; retinal pigment epithelium (RPE) mottling/granularity, vascular attenuation, few bone spicules, macular RPE atrophic changes despite relatively preserved visual acuity; electroretinography: non-recordable, optical coherence tomography: retinal thinning, particularly of the outer nuclear layer in the fovea
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 21y (21 years)
Age/Diagnosis -
Age/Onset 11y
Phenotype/Onset worsening night blindness
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-01 18:31:20 +02:00 (CEST)
Date last edited N/A

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