Global Variome shared LOVD

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Phenotype #0000055577 Individual ID 00075802 Associated disease CORD Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 8y Phenotype/Onset unknown Phenotype details cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 30 years of age: OD 20/200, OS 20/200, Central hypopigmentation with dark surrounding, resembling bull’s eye. Later in life: peripheral changes characteristic of RP, Severe red-green defect; mild blue-yellow defect, Central scotoma of 10–15° with mild peripheral restriction Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited N/A

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