Phenotype #0000307683

Individual ID 00415911
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 0.25, 0.25; refraction right, left eye: emmetropic; Ishihara colour vision test: test plate only; macular appearance on funduscopy: granular macular appearance; fundus autofluorescence: abnormal foveal autofluorescence ; small parafoveal ring of increased autofluorescence; spectral domain optical coherence tomography - fovea: focal disruption of reflective band at inner/outer segment juncti
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-17 21:52:02 +02:00 (CEST)
Date last edited N/A

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