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Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Congenital optic nerve anomalies
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Vol. 91. Issue 12.
Pages 577-588 (December 2016)
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Vol. 91. Issue 12.
Pages 577-588 (December 2016)
Review
Congenital optic nerve anomalies
Anomalías congénitas y del desarrollo del nervio óptico
Visits
231
N. Martín-Beguéa,
Corresponding author
nmartin@vhebron.net

Corresponding author.
, M. Saint-Geronsb
a Unidad de Oftalmología Pediátrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain
b Servicio de Oftalmología, Hospital Mútua de Terrassa, Terrassa, Barcelona, Spain
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Tables (3)
Table 1. Classification of congenital and developmental optic nerve anomalies.
Table 2. Differential diagnostic between incipient papiledema and pseudo-papilledema due to drusen.
Table 3. Supplementary studies according to detected optic nerve anomaly.
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Abstract
Objective

To update the current knowledge about congenital optic disk anomalies.

Methods

A comprehensive literature search was performed in the major biomedical databases.

Results

Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disk anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies.

Conclusions

Congenital optic disk anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up.

Keywords:
Optic nerve
Congenital
Hypoplasia
Coloboma
Optic disk drusen
Myelinated nerve fibers
Resumen
Objetivo

Revisar y actualizar la bibliografía existente sobre las anomalías congénitas y del desarrollo del nervio óptico.

Métodos

Se ha realizado una búsqueda exhaustiva de la bibliografía en las principales bases de datos biomédicas.

Resultados

Los pacientes suelen presentarse en la infancia con baja visión. Los defectos de refracción son frecuentes y algunas de ellas pueden desarrollar un desprendimiento de retina seroso. Sobre todo, es imprescindible realizar un correcto diagnóstico diferencial dado que algunas asocian malformaciones del sistema nervioso central, mientras que otras se presentan asociadas a malformaciones sistémicas.

Conclusiones

Las anomalías congénitas del nervio óptico incluyen un grupo heterogéneo de entidades con unas características oftalmoscópicas singulares y asociaciones sistémicas frecuentes. Un diagnóstico correcto permitirá solicitar las exploraciones complementarias necesarias e indicar un seguimiento adecuado a estos pacientes.

Palabras clave:
Nervio óptico
Congénito
Hipoplasia
Coloboma
Drusas de la papila
Presencia de fibras de mielina

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