Phenotype #0000306880

Individual ID 00415079
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 0.1, 0.1; corneal diameter (mm): 10.9 mm, 10.5 mm; axial length: 14.72, 14.80; refraction right, left eye: +19, +19; intraocular pressure (mmHg): 20, 28; posterior segment findings: optic disk drusen, retinitis pigmentosa; optical coherence tomography: foveoschisis; macular thickness (um): 480 (macular edema)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome
Age/Examination 54y (54 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-07 13:08:05 +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.
  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.