Phenotype #0000289886

Individual ID 00396725
Associated disease -
Phenotype details marked reduction of best-corrected visual acuity, spectral domain optical coherence tomography: cystic degeneration primarily involving the inner nuclear layer, though some cysts were detected in the outer plexiform layer aand in the ganglion cell layer; ten-year follow-up: progressive retinal thickening and coalescence of the cysts
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
Diagnosis/Definite retinoschisis
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset 9y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-12-17 09:26:52 +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.