Phenotype #0000305200

Individual ID 00413219
Associated disease -
Phenotype details best corrected visual acuity right, left eye: counting fingers; refraction: sphere +1.5/cylinder - 2 x 50D, sphere+1/cylinder - 1.5 x 140D; macula:macular coloboma, pigment clumps around macular it; retinal mid-periphery:pigment clumps, attenuated vesselsoptic discwaxy pallor disc; electroretinogram, scotopic rod:flat; maximal combined rod and cone electroretinogram:flat; photopic and 30 hz flicker cone electroretinogram:flat; electrooculography arden ratios:extingui
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Jalili Syndrome
Age/Examination 27y (27 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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