Phenotype #0000305199

Individual ID 00413218
Associated disease -
Phenotype details best corrected visual acuity right, left eye: counting fingers; refraction: sphere+2.5/cylinder - 4 x 180D, sphere+2.5/cylinder - 4 x 180D ; macula:severe macular atrophy (beaten bronze); retinal mid-periphery:pigment clumps and diffuse whitish dots, attenuated vesselsoptic discmoderate optic atrophy; electroretinogram, scotopic rod:flat; maximal combined rod and cone electroretinogram:flat; photopic and 30 hz flicker cone electroretinogram:flat; electrooculography arden ratios:subno
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Jalili Syndrome
Age/Examination 32y (32 years)
Age/Diagnosis -
Age/Onset 0m
Phenotype/Onset nystagmus, photophobia, severe visual impairment
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-12 13:44:29 +02:00 (CEST)
Date last edited N/A

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