Global Variome shared LOVD

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Phenotype #0000303359 Individual ID 00411283 Associated disease - Phenotype details 20y: mild constriction of her peripheral vision; childhood: esotropia resulting in mild amblyopia of the left eye; v best corrected visual acuity right, left eye: 6/5, 6/9; anterior segment: normal in each eye; fundi: changes limited to an irregular appearance of the retinal pigment epithelium in the midperiphery Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset >12y Phenotype/Onset difficulty seeing in the dark Protein F Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-10 10:28:29 +02:00 (CEST) Date last edited N/A

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