Global Variome shared LOVD

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Phenotype #0000300160 Individual ID 00408030 Associated disease - Phenotype details best corrected visual acuity: 8y: right eye: 20/60; left eye: 20/ 60; 14y: right eye: 20/ 125; left eye: 20/100, Goldmann perimetry: 8y: 5deg central scotoma (I4e); 14y: 15deg central scotoma (I4e), fundus: 8 yr and 14 yr: ring of parafoveal atrophy, periphery normal14 yr: parafoveal ring of hypoautofluorescence with hyperautofluorescent rim; similar to age 10, optical coherence tomography: 14 yr: diffuse photoreceptor loss, parafoveal retinal pigment epithelium atrophy; similar to age 10, electroretinography: 8 yr: normal rod and cone responses Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite macular dystrophy Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-12 13:04:16 +02:00 (CEST) Date last edited N/A

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