Global Variome shared LOVD

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

Phenotype #0000300985 Individual ID 00408867 Associated disease - Phenotype details BCVA:6/120 bilaterally, hypoautofluorescent and surrounded by a ring of hyperautofluorescence. OCT showed the loss of the photoreceptor layer in the region of the macular atrophy Diagnosis/Initial Cone-rod dystrophy (CRD) Inheritance Unknown Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset BCVA:6/90 bilaterally. Refraction was +0.50/+1.00×10 RE and +1.50/+1.00×130 LE. Granular atrophic lesions involving the macula and atrophy nasal to the optic disc were present in both eyes. Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-04-29 01:04:01 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.