Phenotype #0000285083

Individual ID 00391760
Associated disease WEST
Phenotype details Nystagmus - infancy, Photophobia - infancy, visual acuity right/left eye: 20/200: 20/250, Contrast Sensitivity: 0.75:0.75, , Color vision: Strong RG & moderate BY deficit, Refractive error -8.50/+1.25 × 115: -8.00/+1.00 × 70, Retinal exam: Tilted disc; dull foveal reflex; peripheral lattice; Fundus autofluorescence: subtle foveal hyper-AF, Grade 1 foveal hypoplasia; Optical Coherence Tomography: Mild disruption of outer segments, in central, sub-foveal regi
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 14y (14 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 2021-11-18 15:02:57 +01:00 (CET)
Date last edited N/A

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