Phenotype #0000057524

Individual ID 00077749
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details ABCA4-related retinal disease; y11: visual acuity OD 1.0(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades.
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset visual loss or the age at the latest examination for patients who were asymptomatic
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.