Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000301961 Individual ID 00409845 Associated disease - Phenotype details best corrected visual acuity right, left eye:: 20/20, 20/30; underwent photorefractive keratometry and sulcus collamer lens implantation for myopia; preoperative prescription was -3.50 right eye, -7.50 left eye; retinal examination: consistent with myopia, otherwise unremarkable; review of macular optical coherence tomography: one focal point of retinal pigment epithelium thickening inferotemporal to the fovea in the left eye Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite rod-cone dystrophy Age/Examination 36y (36 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 2022-05-12 11:42:14 +02:00 (CEST) Date last edited N/A

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