Phenotype #0000304952

Individual ID 00412966
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/400, 20/400; spherical equivalent refraction: -8.38, -8.00; lens status: mild posterior subcapsular cataract, severe cortical and nuclear cataract; electroretinogram, scotopic: subnormal, photopic: moderately reduced; Goldmann perimetry: central scotoma
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite macular dystrophy
Age/Examination 77y (77 years)
Age/Diagnosis -
Age/Onset 31y
Phenotype/Onset decrease in visual acuity / metamorphopsia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-07 11:38:31 +02:00 (CEST)
Date last edited N/A

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