Relative anterior microphthalmos in oculodentodigital dysplasia

oleh: Orsolya Orosz, Mariann Fodor, István Balogh, Gergely Losonczy

Format: Article
Diterbitkan: Wolters Kluwer Medknow Publications 2018-01-01

Deskripsi

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.