Global Variome shared LOVD

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

Phenotype #0000303151 Individual ID 00411061 Associated disease - Phenotype details VA: 0/0.14; RPE dystrophy along the vascular arcades and at the peripapillary area. Peripheral retina was spared. Retinal vessels and optic disc appeared normal. Perifoveal atrophy. Bull’s eye maculopathy ; Perifoveal hypo-autofluorescence and speckled hypo-autofluorescence with some hypo-autofluorescent circular areas along the vascular arcades. At the external boundaries of the FAF alterations, an hyper-fluorescent ring was present.; ERG severely reduced Diagnosis/Initial NR2E3-related retinal dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 58y (58 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2022-05-31 18:45:49 +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.