Relative anterior microphthalmos in oculodentodigital dysplasia

Orsolya Orosz, Mariann Fodor, István Balogh, Gergely Losonczy

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)334-336
Number of pages3
JournalIndian Journal of Ophthalmology
Volume66
Issue number2
DOIs
Publication statusPublished - Feb 1 2018

Fingerprint

Microphthalmos
Myopia
Connexins
Anterior Chamber
Mutation
Genes
Oculodentodigital Dysplasia

Keywords

  • Microcornea
  • mutation
  • myopia
  • oculodentodigital dysplasia

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Relative anterior microphthalmos in oculodentodigital dysplasia. / Orosz, Orsolya; Fodor, Mariann; Balogh, István; Losonczy, Gergely.

In: Indian Journal of Ophthalmology, Vol. 66, No. 2, 01.02.2018, p. 334-336.

Research output: Contribution to journalArticle

Orosz, Orsolya ; Fodor, Mariann ; Balogh, István ; Losonczy, Gergely. / Relative anterior microphthalmos in oculodentodigital dysplasia. In: Indian Journal of Ophthalmology. 2018 ; Vol. 66, No. 2. pp. 334-336.
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