Global Variome shared LOVD

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Phenotype #0000306858 Individual ID 00415057 Associated disease - Phenotype details best corrected visual acuity: 20/200 both eyes; anterior segment findings: horizontal corneal diameter: 11.4mm, 11.7mm, shallow anterior chamber and open camerular angles both eyes; posterior segment findings: optic disc drusen, pigment clumping, and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and marked reduction and delay in cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome Age/Examination 45y (45 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 2022-08-06 21:06:02 +02:00 (CEST) Date last edited N/A

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