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...

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Autores principales:	Rakusiewicz Klaudia, Kanigowska Krystyna, Hautz Wojciech, Wicher Dorota, Młynek Marlena, Wyszyńska Marta, Rogowska Anna, Jędrzejczak-Młodziejewska Joanna, Danowska Małgorzata, Czeszyk Agnieszka
Formato:	article
Lenguaje:	EN
Publicado:	De Gruyter 2021
Materias:	cohen syndrome macular edema pale optic disc facial dysmorphism cgh test Medicine R
Acceso en línea:	https://doaj.org/article/6067c8c03bda4cab8994a7a3dc12931d
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id	oai:doaj.org-article:6067c8c03bda4cab8994a7a3dc12931d
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spelling	oai:doaj.org-article:6067c8c03bda4cab8994a7a3dc12931d2021-12-05T14:10:53ZCoexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome2391-546310.1515/med-2021-0208https://doaj.org/article/6067c8c03bda4cab8994a7a3dc12931d2021-01-01T00:00:00Zhttps://doi.org/10.1515/med-2021-0208https://doaj.org/toc/2391-5463Cohen 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.Rakusiewicz KlaudiaKanigowska KrystynaHautz WojciechWicher DorotaMłynek MarlenaWyszyńska MartaRogowska AnnaJędrzejczak-Młodziejewska JoannaDanowska MałgorzataCzeszyk AgnieszkaDe Gruyterarticlecohen syndromemacular edemapale optic discfacial dysmorphismcgh testMedicineRENOpen Medicine, Vol 16, Iss 1, Pp 156-160 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	cohen syndrome macular edema pale optic disc facial dysmorphism cgh test Medicine R
spellingShingle	cohen syndrome macular edema pale optic disc facial dysmorphism cgh test Medicine R Rakusiewicz Klaudia Kanigowska Krystyna Hautz Wojciech Wicher Dorota Młynek Marlena Wyszyńska Marta Rogowska Anna Jędrzejczak-Młodziejewska Joanna Danowska Małgorzata Czeszyk Agnieszka Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
description	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.
format	article
author	Rakusiewicz Klaudia Kanigowska Krystyna Hautz Wojciech Wicher Dorota Młynek Marlena Wyszyńska Marta Rogowska Anna Jędrzejczak-Młodziejewska Joanna Danowska Małgorzata Czeszyk Agnieszka
author_facet	Rakusiewicz Klaudia Kanigowska Krystyna Hautz Wojciech Wicher Dorota Młynek Marlena Wyszyńska Marta Rogowska Anna Jędrzejczak-Młodziejewska Joanna Danowska Małgorzata Czeszyk Agnieszka
author_sort	Rakusiewicz Klaudia
title	Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
title_short	Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
title_full	Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
title_fullStr	Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
title_full_unstemmed	Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome
title_sort	coexistence of bilateral macular edema and pale optic disc in the patient with cohen syndrome
publisher	De Gruyter
publishDate	2021
url	https://doaj.org/article/6067c8c03bda4cab8994a7a3dc12931d
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Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome

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