Global Variome shared LOVD

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Phenotype #0000317802 Individual ID 00426647 Associated disease - Phenotype details 5y: best corrected visual acuity and refraction right, left eye: 0.7 (+ 0.25 diopter sphere) / 0.7 (+ 0.25 diopter sphere); slit-lamp and funduscopy examination: no remarkable findings; fundus autofluorescence: a hyperautofluorescent ring around the macula; optical coherence tomography: a thickened external limiting membrane; 6y8m best corrected visual acuity right, left eye: decreased to 0.1 / 0.15; optical coherence tomography: disappearance of the thickened ELM and thinner foveal thickness compared to that at 5 years of age - progressive loss of visual acuity; dark-adapted full field electroretinography: very similar to those of patient III-1; photopic cone (light-adapted 3.0) and 30-Hz flicker (light-adapted 3.0 flicker) responses: severely decreased Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite congenital stationary night blindness and cone-rod dystrophy Age/Examination 5y (5 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 2022-12-02 12:04:56 +01:00 (CET) Date last edited N/A

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