Phenotype #0000296456

Individual ID 00403758
Associated disease -
Phenotype details visual acuity: 30/200 (right eye), 200/200 (left eye), electro-oculogram (Arden ratio: right eye/left eye): 263/156, funduscopy: typical (right eye) or faded (left eye) vitelliform lesions, optical coherence tomography: disruption of the photorecepto r layer (right eye), abnormal thickness of the foveal region (left eye) , flash electroretinograms: dramatic decrease of the electroretinogram responses , multifocal electroretinograms:
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2)
Age/Examination 9y (9 years)
Age/Diagnosis -
Age/Onset 4y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-02-21 15:24:56 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.