Global Variome shared LOVD

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Phenotype #0000306076 Individual ID 00414204 Associated disease - Phenotype details pituitary gland enlargement without evidence of suprasellar extension or pituitary hormone dysfunction, received treatment for eczema; best corrected visual acuity and refraction right / left eye: 1.00 / 0.84 logMAR, myopic (right, left eye: 15.50/1.50x50, 14.50/1.00x90); normal color vision and full visual fields on Goldmann kinetic perimetry; right convergent squint and pendular nystagmus, and myopic changes were evident on fundoscopy; fundus autofluorescence: normal; electrophysiology typical of complete CSNB Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite congenital stationary night blindness Age/Examination 36y (36 years) Age/Diagnosis 16y Age/Onset >1y Phenotype/Onset nystagmus 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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