Congenital cystic eye associated with a low-grade cerebellar lesion that spontaneously regressed

Maria Giuseppina Cefalo, Giovanna Stefania Colafati, Antonino Romanzo, Alessandra Modugno, Rita De Vito, Angela Mastronuzzi

Research output: Contribution to journalArticle

Abstract

Background: Congenital cystic eye is an exceedingly rare ocular malformative disease, originated from the failure in the invagination of the optic vesicle during the fetal period and it can be associated with other ocular and non-ocular abnormalities. Diagnosis is based on clinical, radiological and histological features. Case presentation. We report a case of a congenital cystic eye associated with a cerebellar lesion accidentally detected at magnetic resonance imaging. Biopsy of the mass has not been performed due to parental rejection. Based on radiologic features and absence of clinical signs, a low-grade glioma diagnosis was hypothesized, but histological characterization was not obtained. Follow-up neuro-imaging 6 months after diagnosis showed that intracranial lesion spontaneously regressed without any treatment. Conclusion: Our report stresses the importance of early MRI in children with ocular malformations, in order to detect associated intracranial defects, also of non-malformative origin. Additionally, we debate the clinic-radiological features of the intracranial lesions that could allow a wait-and-see policy. We also recommend a strict clinical and neuro-imaging follow-up for these lesions. Finally, biological mechanisms at the base of spontaneous regression of the brain lesions are discussed.

Original languageEnglish
Article number80
JournalBMC Ophthalmology
Volume14
Issue number1
DOIs
Publication statusPublished - Jun 17 2014

Keywords

  • Anophthalmia
  • Brain lesion
  • Congenital cystic eye
  • Magnetic resonance imaging
  • Spontaneous regression

ASJC Scopus subject areas

  • Ophthalmology
  • Medicine(all)

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