Phenotype #0000352962

Individual ID 00467809
Associated disease macular dystrophy
Phenotype details see paper; ..., central blurriness, difficulty seeing in dim light; constricted visual acuity; macular geographic atrophy and granular RPE changes out to the periphery; retinal thinning; full field ERG severely reduced responses in scotopic/photopic waveforms; pseudophakia, hypertension and anaemia
Diagnosis/Initial retinal degeneration
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 80y-90y
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 12:46:21 +01:00 (CET)
Date last edited N/A

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