Resumo

TEJADA, P. et al. Hereditary glaucoma associated with oculodentodigital dysplasia. Arch Soc Esp Oftalmol [online]. 2011, vol.86, n.9, pp.292-294. ISSN 0365-6691.

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).

Palavras-chave : Oculodentodigital síndrome; Glaucoma; Inheritance.

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