Phenotype #0000296297

Individual ID 00403558
Associated disease -
Phenotype details visual acuity at onset right / left eye: 0.8/0.8), visual acuity present right / left eye: 0.7/0.5, clinical findings right/left eye: vitelliruptive+atrophic/vitelliruptive+atrophic, multifocal, optical coherence tomography - foveal thickness (right/left eye, um):409/265, multifocal electroretinography: not performed, electro-oculogram Arden ratio: 1.0/0.9, full-field ERG (rod, rod-cone, 30Hz flicker amplitudes, and implicit time): 142%, 130%, 66%, 107%
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite dystrophy, macular, vitelliform type 2 (VMD2)
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset 30y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-02-18 14:02:58 +01:00 (CET)
Date last edited N/A

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