Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome

Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome

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...

Full description

Bibliographic Details
Main Authors: Rakusiewicz Klaudia, Kanigowska Krystyna, Hautz Wojciech, Wicher Dorota, Młynek Marlena, Wyszyńska Marta, Rogowska Anna, Jędrzejczak-Młodziejewska Joanna, Danowska Małgorzata, Czeszyk Agnieszka
Format: Article
Language:English
Published: De Gruyter 2021-01-01
Series:Open Medicine
Subjects:
cohen syndrome
macular edema
pale optic disc
facial dysmorphism
cgh test
Online Access:https://doi.org/10.1515/med-2021-0208

Internet

https://doi.org/10.1515/med-2021-0208

Similar Items