Phenotype #0000305201

Individual ID 00413220
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/150, 20/120; refraction: SD - 0.75, SD - 0.5; macula:mild macular atrophy in both the eyes; retinal mid-periphery:pigment clumps, attenuated vesselsoptic discmild optic atrophy; electroretinogram, scotopic rod:flat; maximal combined rod and cone electroretinogram:decreased amplitudes; photopic and 30 hz flicker cone electroretinogram:decreased amplitudes; electrooculography arden ratios:subnorm
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Jalili Syndrome
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset <5y
Phenotype/Onset latent nystagmus, photophobia, moderate 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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