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CASE REPORT
Year : 2018  |  Volume : 66  |  Issue : 2  |  Page : 334-336

Relative anterior microphthalmos in oculodentodigital dysplasia


1 Department of Ophthalmology, University of Debrecen, Debrecen, Hungary, The Netherlands
2 Department of Laboratory Medicine, Division of Clinical Genetics, University of Debrecen, Debrecen, Hungary, The Netherlands
3 Department of Ophthalmology, University of Debrecen; Department of Ophthalmology, Zuyderland Hospital, Eyescan BV, Sittard, The Netherlands

Correspondence Address:
Dr. Gergely Losonczy
Department of Ophthalmology, University of Debrecen, H-4032, Nagyerdei Krt 98, Debrecen, Hungary
The Netherlands
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_756_17

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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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