Global Variome shared LOVD

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Phenotype #0000285079 Individual ID 00391756 Associated disease - Phenotype details Nyctalopia at 3 years, visual acuity right/left eye: 20/25: 20/25, Contrast Sensitivity: 1.50: 1.50, Color vision: Moderate RG defect, Refractive error +0.75+0.50 × 10:, +1.50, Retinal exam: white dots ST arcade, Hypo AF along ST, arcade; Fundus autofluorescence: hyper AF, dots periphery, Optical Coherence Tomography: Normal CRT; ONL, and OPL rosettes, with thick and, disorganized retina, in mid-peripher Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite enhanced S-cone syndrome Age/Examination 17y (17 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 2021-11-18 15:02:57 +01:00 (CET) Date last edited N/A

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