Open AccessRelative anterior microphthalmos in oculodentodigital dysplasia
Author(s) -
Orsolya Orosz,
Mariann Fodor,
István Balogh,
Gergely Losonczy
Publication year - 2018
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_756_17
Subject(s) - microphthalmos , medicine , dysplasia , ophthalmology , dermatology , pathology
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.