Literature DB >> 21893263

[Hereditary glaucoma associated with oculodentodigital dysplasia].

P Tejada1, Y W Eduardo, E Gutiérrez, A Barceló, J Sánchez.   

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 35 mm Hg in OD and 40 mm 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).
Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

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Year:  2011        PMID: 21893263     DOI: 10.1016/j.oftal.2011.04.006

Source DB:  PubMed          Journal:  Arch Soc Esp Oftalmol        ISSN: 0365-6691


  2 in total

1.  A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World.

Authors:  Fatemeh Owlia; Mohammad-Hassan Akhavan Karbassi; Roqayeh Hakimian; Mohammad Sadegh Alemrajabi
Journal:  Iran J Child Neurol       Date:  2017

2.  Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Authors:  Virang Kumar; Natario L Couser; Arti Pandya
Journal:  Case Rep Ophthalmol Med       Date:  2020-04-04
  2 in total

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