Phenotype #0000300162

Individual ID 00408032
Associated disease -
Phenotype details best corrected visual acuity: 29 yr: both eyes: 20/160; 34y: right eye: 20/ 100; left eye: 20/150, Goldmann perimetry: not available, fundus: 29 yr: extensive macular atrophy with peripapillary sparing, peripheral atrophy including perivascular patchesnot available, optical coherence tomography: not available, electroretinography: not available
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite macular dystrophy
Age/Examination -
Age/Diagnosis -
Age/Onset <18y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-12 13:04:16 +02:00 (CEST)
Date last edited N/A

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