Systemic Abnormalities in Children with Congenital Optic Disc Excavations

Abstract

Purpose: Together with optic disc hypoplasia, excavated optic disc anomalies represent the most frequent congenital abnormality involving the optic nerve head. The purpose of the present study was to retrospectively review the results of a screening for extraocular abnormalities in children presenting with congenital optic disc excavations.

Materials and methods: The medical records of 37 patients diagnosed with a unilateral or bilateral non glaucomatous optic disc excavation were retrospectively reviewed to analyze the result of the extra ocular evaluation and to report the associated ocular abnormalities.

Results: An ocular abnormality was observed in conjunction with the excavated optic disc in 31% of the eyes. The systematic investigations revealed the presence of at least one extra-ocular disorder in 48% of the cases, and the optic disc excavation could be considered as syndromic in 30% of patients. The prevalence of extraocular malformations was significantly higher in infants presenting with associated ocular malformations or abnormal vision/development.

Conclusions: The present study suggests that a systematic approach to search for any associated systemic abnormalities could be envisioned in patients presenting with congenital excavated optic discs, and particularly those presenting with abnormal vision, associated ocular defects or abnormal development.

• Coloboma
• congenital
• microphthalmia
• optic disc excavation
• systemic anomalies

Declaration of interest

The author reports no conflicts of interest. The author alone is responsible for the content and writing of the paper.