Global Variome shared LOVD

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Phenotype #0000307785 Individual ID 00416019 Associated disease - Phenotype details best corrected visual acuity: 6/20, 6/15; refraction: -9.0, -2.0 x 30, -9.5, -2.5 x 160; nystagmus: present transiently; photophobia: absent; goldmann perimetry: not available; fundoscopy: changes in optic disc and peripapillary area, discreet, small disruptions of retinal pigment epithelium in central fovea; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: moderate, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: norma Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite incomplete achromatopsia; alopecia Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-22 09:29:12 +02:00 (CEST) Date last edited N/A

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