Phenotype #0000305400

Individual ID 00413426
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.7 / 0.7; stage: early; fundus: discoloration limited at the fovea; fundus autofluorescence: slight hyper-autofluorescence limited at the fovea; optical coherence tomography, ellipsoid zone line: preserved, thinning of outer retinal layers: absent; visual field testing (Goldmann perimetry): normal in re and slightly decreased central sensitivity in le in hfa; full field electroretinography: rod: normal b-wave, combined: normal a-wave and decreased b-wave, cone and 30-Hz flickers: severely decreased
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite cone-rod dystrophy
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset photophobia and reduced visual acuity
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-18 13:24:40 +02:00 (CEST)
Date last edited N/A

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