Glaucoma hereditario asociado a displasia oculodentodigital [artículo]
Por: Barceló Mendiguchia, Ana [Oftalmología]
| Gutiérrez Díaz, Esperanza [Oftalmología] | Sánchez del Pozo, Jaime [Endocrinología Pediátrica] | Tejada Palacios, Pilar [Oftalmología].
Colaborador(es): Servicio de Oftalmología | Servicio de Pediatría-Neonatología.
Editor: Archivos de la Sociedad Española de Oftalmología, 2011Descripción: 86(9):292-294.Recursos en línea: Solicitar documento Resumen: 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).
| Tipo de ítem | Ubicación actual | Signatura | Estado | Fecha de vencimiento |
|---|---|---|---|---|
Artículo
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PC6491 (Navegar estantería) | Disponible |
Formato Vancouver:
Tejada P, Eduardo YW, Gutiérrez E, Barceló A, Sánchez J. Glaucoma hereditario asociado a displasia oculodentodigital. Arch Soc Esp Oftalmol. 2011;86(9):292-4.
PMID: 21893263
Contiene 4 referencias
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).
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