1. Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
- Author
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Rakusiewicz Klaudia, Kanigowska Krystyna, Hautz Wojciech, Wicher Dorota, Młynek Marlena, Wyszyńska Marta, Rogowska Anna, Jędrzejczak-Młodziejewska Joanna, Danowska Małgorzata, and Czeszyk Agnieszka
- Subjects
cohen syndrome ,macular edema ,pale optic disc ,facial dysmorphism ,cgh test ,Medicine - Abstract
Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the VPS13B/COH1 gene.
- Published
- 2021
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