Phenotype #0000352960

Individual ID 00467807
Associated disease macular dystrophy
Phenotype details see paper; ..., 40s-central vision loss, more pronounced left eye (led to legal blindness, cessation of driving); fundus central chorioretinal atrophy with flecks,RPE mottling; bilateral central scotomas; hypoautofluorescence patches, complete ring of peripapillary atrophy and nasal sparing; severe atrophy both retina/choroid through macula; multifocal ERG severely abnormal, amplitude both eyes; hypertension;full-field ERG moderate reduction rod-driven responses/cone responses; gout; grandparents/father glaucoma
Diagnosis/Initial Stargardt-like macular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 70y (70 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-31 12:23:24 +01:00 (CET)
Date last edited 2025-10-31 12:29:23 +01:00 (CET)

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.