Phenotype #0000301959

Individual ID 00409843
Associated disease -
Phenotype details best corrected visual acuity: 20/80, 20/80; no strabismus or nystagmus; anterior segment slit-lamp examination: normal; cycloplegic refraction right, left eye: +4.00-2.00x180, +2.25-1.75x180; retinal exam: central mottling of the retinal pigment epithelium; fundus autofluorescence: subtle point increased signal in the central macula; optical coherence tomography discoloration of the outer nuclear layer and thickening of the ellipsoid zone
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite rod-cone dystrophy
Age/Examination 4y (4 years)
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset light sensitivity and poor hearing
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-12 11:42:14 +02:00 (CEST)
Date last edited N/A

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