Phenotype #0000305198

Individual ID 00413217
Associated disease -
Phenotype details best corrected visual acuity right, left eye: hand movement; refraction: sphere+1.5/cylinder - 1.5 x 180 D, sphere+2/cylinder - 1.5 x 180 D ; macula:macular coloboma, pigment clumps around 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 39y (39 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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