Relative anterior microphthalmos in oculodentodigital dysplasia

Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anteri...

Descripción completa

Detalles Bibliográficos
Autores principales: Orosz, Orsolya, Fodor, Mariann, Balogh, István, Losonczy, Gergely
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819136/
https://www.ncbi.nlm.nih.gov/pubmed/29380799
http://dx.doi.org/10.4103/ijo.IJO_756_17
_version_ 1783301148510257152
author Orosz, Orsolya
Fodor, Mariann
Balogh, István
Losonczy, Gergely
author_facet Orosz, Orsolya
Fodor, Mariann
Balogh, István
Losonczy, Gergely
author_sort Orosz, Orsolya
collection PubMed
description Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia.
format Online
Article
Text
id pubmed-5819136
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-58191362018-02-22 Relative anterior microphthalmos in oculodentodigital dysplasia Orosz, Orsolya Fodor, Mariann Balogh, István Losonczy, Gergely Indian J Ophthalmol Case Report Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anterior chamber, as expected. Surprisingly, the patient had a normal axial length and moderate myopia on both eyes. To the best of our knowledge, this is the first report on ODDD associated with relative anterior microphthalmos and myopia. Medknow Publications & Media Pvt Ltd 2018-02 /pmc/articles/PMC5819136/ /pubmed/29380799 http://dx.doi.org/10.4103/ijo.IJO_756_17 Text en Copyright: © 2018 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Orosz, Orsolya
Fodor, Mariann
Balogh, István
Losonczy, Gergely
Relative anterior microphthalmos in oculodentodigital dysplasia
title Relative anterior microphthalmos in oculodentodigital dysplasia
title_full Relative anterior microphthalmos in oculodentodigital dysplasia
title_fullStr Relative anterior microphthalmos in oculodentodigital dysplasia
title_full_unstemmed Relative anterior microphthalmos in oculodentodigital dysplasia
title_short Relative anterior microphthalmos in oculodentodigital dysplasia
title_sort relative anterior microphthalmos in oculodentodigital dysplasia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819136/
https://www.ncbi.nlm.nih.gov/pubmed/29380799
http://dx.doi.org/10.4103/ijo.IJO_756_17
work_keys_str_mv AT oroszorsolya relativeanteriormicrophthalmosinoculodentodigitaldysplasia
AT fodormariann relativeanteriormicrophthalmosinoculodentodigitaldysplasia
AT baloghistvan relativeanteriormicrophthalmosinoculodentodigitaldysplasia
AT losonczygergely relativeanteriormicrophthalmosinoculodentodigitaldysplasia

Ejemplares similares