Global Variome shared LOVD

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Phenotype #0000305639 Individual ID 00413674 Associated disease - Phenotype details rotatory nystagmus, a very unusual blond fundus, and congenital night blindness; best corrected visual acuity and refraction: 20/30 and - 12.00 D; electroretinogram: dark-adapted conditions: the ERG b-wave recorded to a low luminance markedly reduced in amplitude, high flash luminance: robust a-wave without the subsequent b-wave seen in controls; light-adapted conditions: a square a-wave, retaining a late positive ERG component Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite congenital stationary night blindness Age/Examination - Age/Diagnosis 20y Age/Onset - Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-21 13:09:08 +02:00 (CEST) Date last edited N/A

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