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A 5-year-old Syrian female was born with Oguchi disease: a rare case report
Oguchi disease is a rare autosomal recessive disease that causes congenital stationary blindness, which is distinguished by the Mizuo–Nakamura phenomenon and caused by mutations of rhodopsin kinase gene or the arrestin gene. CASE PRESENTATION: A 5-year-old Syrian female complains of stationary night...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129271/ https://www.ncbi.nlm.nih.gov/pubmed/37113844 http://dx.doi.org/10.1097/MS9.0000000000000100 |
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author | Habeeb, Rasha Baba, Marwa Bazkke, Bashar Zazo, Aya Marashi, Ameen |
author_facet | Habeeb, Rasha Baba, Marwa Bazkke, Bashar Zazo, Aya Marashi, Ameen |
author_sort | Habeeb, Rasha |
collection | PubMed |
description | Oguchi disease is a rare autosomal recessive disease that causes congenital stationary blindness, which is distinguished by the Mizuo–Nakamura phenomenon and caused by mutations of rhodopsin kinase gene or the arrestin gene. CASE PRESENTATION: A 5-year-old Syrian female complains of stationary night blindness, investigated by fundus photo and optical coherence photograph and diagnosed as Oguchi disease. DISCUSSION: Oguchi disease is an autosomal recessive retinal disorder causing stationary nyctalopia. It is characterized by Mizuo–Nakamura phenomenon, which is the alteration of fundus reflex color from golden-yellow to normal with dark adaptation. Literature reports suggest that mutations in rhodopsin kinase or arrestin genes may cause Oguchi’s disease. CONCLUSIONS: Optical coherence tomography is of great importance in Oguchi’s disease. Optical coherence tomography usually shows an absence of the inner and outer segments line in the extrafoveal area during a partly dark-adaptation phase. |
format | Online Article Text |
id | pubmed-10129271 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-101292712023-04-26 A 5-year-old Syrian female was born with Oguchi disease: a rare case report Habeeb, Rasha Baba, Marwa Bazkke, Bashar Zazo, Aya Marashi, Ameen Ann Med Surg (Lond) Case Reports Oguchi disease is a rare autosomal recessive disease that causes congenital stationary blindness, which is distinguished by the Mizuo–Nakamura phenomenon and caused by mutations of rhodopsin kinase gene or the arrestin gene. CASE PRESENTATION: A 5-year-old Syrian female complains of stationary night blindness, investigated by fundus photo and optical coherence photograph and diagnosed as Oguchi disease. DISCUSSION: Oguchi disease is an autosomal recessive retinal disorder causing stationary nyctalopia. It is characterized by Mizuo–Nakamura phenomenon, which is the alteration of fundus reflex color from golden-yellow to normal with dark adaptation. Literature reports suggest that mutations in rhodopsin kinase or arrestin genes may cause Oguchi’s disease. CONCLUSIONS: Optical coherence tomography is of great importance in Oguchi’s disease. Optical coherence tomography usually shows an absence of the inner and outer segments line in the extrafoveal area during a partly dark-adaptation phase. Lippincott Williams & Wilkins 2023-03-27 /pmc/articles/PMC10129271/ /pubmed/37113844 http://dx.doi.org/10.1097/MS9.0000000000000100 Text en Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) |
spellingShingle | Case Reports Habeeb, Rasha Baba, Marwa Bazkke, Bashar Zazo, Aya Marashi, Ameen A 5-year-old Syrian female was born with Oguchi disease: a rare case report |
title | A 5-year-old Syrian female was born with Oguchi disease: a rare case report |
title_full | A 5-year-old Syrian female was born with Oguchi disease: a rare case report |
title_fullStr | A 5-year-old Syrian female was born with Oguchi disease: a rare case report |
title_full_unstemmed | A 5-year-old Syrian female was born with Oguchi disease: a rare case report |
title_short | A 5-year-old Syrian female was born with Oguchi disease: a rare case report |
title_sort | 5-year-old syrian female was born with oguchi disease: a rare case report |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129271/ https://www.ncbi.nlm.nih.gov/pubmed/37113844 http://dx.doi.org/10.1097/MS9.0000000000000100 |
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