Global Variome shared LOVD

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Phenotype #0000300516 Individual ID 00408397 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/100, 20/200; spherical equivalent refraction: 6,13 / 7,25; lens: clear; ophthalmoscopy: sparse bone spicule pigmentation in the periphery, small hyperemic optic discs, and attenuated retinal vessels; Goldmann perimetry: severely constricted visual field to <10deg; 5y electroretinogram: scotopic: severely reduced, photopic: reduced Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite early-onset retinal dystrophy Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 3y Phenotype/Onset nystagmus Protein midigene splice assay Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-20 22:53:40 +02:00 (CEST) Date last edited N/A

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