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Relative anterior microphthalmos in oculodentodigital dysplasia.

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.

SUBMITTER: Orosz O

PROVIDER: S-EPMC5819136 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Relative anterior microphthalmos in oculodentodigital dysplasia.

Orosz Orsolya O Fodor Mariann M Balogh István I Losonczy Gergely G

Indian journal of ophthalmology 20180201 2

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 ante ...[more]

PMID: 29380799

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