Phenotype #0000300517

Individual ID 00408398
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/130, 20/60; spherical equivalent refraction: 7,00 / 6,50; lens: clear; ophthalmoscopy: bone spicule pigmentation in the periphery, small hyperemic optic discs, pigment alterations in the macula, and attenuated retinal vessels; Goldmann perimetry: constricted visual field to 30deg (right eye) and 20deg (left eye); 6y electroretinogram: scoptopic: non-recordable, photopic: severely reduced
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite early-onset retinal dystrophy
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset 1y
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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