Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000307674 Individual ID 00415902 Associated disease - Phenotype details functional signs: nystagmus at age 2; photophobia; mild night blindness; best corrected visual acuity and refraction right, left eye: -1.75 (-2.25; 115 degrees): 5/10, -0.50 (1.25; 65 degrees): 4/10; fundus: loss of foveal reflex; fine granular pigmentation of the macula; color vision: subnormal; Goldmann perimetry: six-degrees central scotoma at I4; electroretinogram of right eye: dark-adapted maximum at 0 dB (rod cone); light-adapted 30-Hz Flickers (cone): supernormal at 634 uV; Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-17 14:53:38 +02:00 (CEST) Date last edited N/A

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