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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-20 22:53:40 +02:00 (CEST)
Date last edited N/A

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