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...

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Bibliographic Details
Main Authors: Orsolya Orosz, Mariann Fodor, István Balogh, Gergely Losonczy
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2018-01-01
Series:Indian Journal of Ophthalmology
Subjects:
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2018;volume=66;issue=2;spage=334;epage=336;aulast=Orosz