Global Variome shared LOVD

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Phenotype #0000234741 Individual ID 00309421 Associated disease - Phenotype details 15y: best corrected visual acuity right/left eye: 0.5 / 0.2; full field electroretinography (right eye only), light adapted: non-recordable, dark adapted: non-recordable; flash visual evoked potentials: normal; additional ocular findings: esotropia and elevation deficiency left eye; extra-ocular findings: intellectual disability, attention deficit/hyperactivity disorder; 24y: best corrected visual acuity right/left eye: 0.3 / 0.2; ophthalmoscopic findings: optic disc pallor, attenuated retinal blood vessels, bone-spicule pigmentation; additional ocular findings: cataract, secondary glaucoma left eye; cystoid macular edema both eyes Diagnosis/Initial retinitis pigmentosa- syndromic Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Global Variome, with Curator vacancy Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-08-28 13:59:40 +02:00 (CEST) Date last edited 2022-07-01 20:09:49 +02:00 (CEST)

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