Global Variome shared LOVD

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Phenotype #0000259843 Individual ID 00364505 Associated disease - Phenotype details Diagnosis of CRD was based in initial complaints of blurred central vision without a history of night blindness, poor visual acuity, impairment of colour vision, funduscopic evidence of atrophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude. At the age of 59 the visual acuity was 0.05 OD an d 0.05OS. Diagnosis/Initial cone-rod dystrophy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 46y Phenotype/Onset unknown Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2021-05-03 14:25:36 +02:00 (CEST) Date last edited N/A

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