Glaucoma hereditario asociado a displasia oculodentodigital

  1. P. Tejada
  2. Y.W. Eduardo
  3. E. Gutiérrez
  4. A. Barceló
  5. J. Sánchez
Journal:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Year of publication: 2011

Volume: 86

Issue: 9

Pages: 292-294

Type: Article

DOI: 10.1016/J.OFTAL.2011.04.006 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Archivos de la Sociedad Española de Oftalmologia

Abstract

Case report: A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35mm Hg in OD and 40mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and fifth finger syndactylyl in both hands. A bilateral trabeculectomy was performed with a good response. Discussion: ODDD is a rare autosomal dominant disease with heterogeneous phenotype manifestations. The most frequent cause of loss of visual acuity is the glaucoma, requiring long-term follow up with periodical control of the intraocular pressure (IOP).

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