Global Variome shared LOVD

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Phenotype #0000307709 Individual ID 00415938 Associated disease - Phenotype details reason for referral: intermittent exotropia; best corrected visual acuity right, left eye: 4/30, 4/30 (7y); nyctalopia; refraction right, left eye: +4.00, +4.00; fundus: retinal pigment epithelium foveal disturbance; fundus autofluorescence: perifoveal increased autofluorescence ring (12y); comments: 12y: 20/200 both eyes; bulls-eye maculopathy and perifoveal AF ring both eyes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram Age/Examination 5y (5 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 2022-08-19 09:17:45 +02:00 (CEST) Date last edited N/A

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