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Relative anterior microphthalmos in oculodentodigital dysplasia
Orsolya Orosz1, Mariann Fodor1, István Balogh2
1Department of Ophthalmology, University of Debrecen, Debrecen, Hungary, The Netherlands.
Abstract:
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.
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