Relative anterior microphthalmos in oculodentodigital dysplasia

Indian J Ophthalmol. 2018 Feb;66(2):334-336. doi: 10.4103/ijo.IJO_756_17.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Connexin 43 / genetics*
  • Connexin 43 / metabolism
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / metabolism
  • DNA / genetics*
  • DNA Mutational Analysis
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics
  • Eye Abnormalities / metabolism
  • Foot Deformities, Congenital / diagnosis*
  • Foot Deformities, Congenital / genetics
  • Foot Deformities, Congenital / metabolism
  • Humans
  • Male
  • Microphthalmos / diagnosis*
  • Microphthalmos / genetics
  • Microphthalmos / metabolism
  • Syndactyly / diagnosis*
  • Syndactyly / genetics
  • Syndactyly / metabolism
  • Tomography, Optical Coherence
  • Tooth Abnormalities / diagnosis*
  • Tooth Abnormalities / genetics
  • Tooth Abnormalities / metabolism

Substances

  • Connexin 43
  • GJA1 protein, human
  • DNA

Supplementary concepts

  • Oculodentodigital Dysplasia