Global Variome shared LOVD

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Phenotype #0000306077 Individual ID 00414205 Associated disease - Phenotype details difficulties seeing at night and poorer vision in her left eye from an early age; blistering of the skin - uncharacterized condition similar to epidermolysis bullosa simplex; regular thyroxine for hypothyroidism; best corrected visual acuity right/left eye: 0.28 / 1.00 (thought to be amblyopic); myopa (4.25D in each eye), left divergent squint and nystagmus; fundus: bilateral tilted optic discs, otherwise unremarkable; electrophysiology typical of complete CSNB Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite congenital stationary night blindness Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 0m Phenotype/Onset nystagmus and a left divergent squint from birth Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-27 15:11:06 +02:00 (CEST) Date last edited N/A

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