Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series

• Type: Another Publication in an International Scientific Journal
• Date: 2023

Authors

Moleiro, AF (Author) FMUP; Oliveira, JS (Author) Other; Grangeia, A (Author) FMUP; Faria, P (Author) Other; Falcao-Reis, F (Author) Other; Magalhaes, A (Author) Other; Silva, SE (Author) Other

Journal

Title: European Journal of Ophthalmology

Vol. 34

Pages: NP6-NP11

ISSN: 1120-6721

Publisher: WICHTIG PUBLISHING

Indexing

ISI Web of Knowledge - 0 Citations

Scopus

Other information

Authenticus ID: P-00Y-D4V

DOI: 10.1177/11206721231170406

Abstract (EN): Background: Oculofaciocardiodental (OFCD) syndrome is a rare genetic disorder affecting ocular, facial, dental, and cardiac systems, being an X-linked condition caused by pathogenic variants in the BCL-6 corepressor gene (BCOR). We report a case series of three female patients with OFCD syndrome with severe glaucoma. Results: Three female patients with OFCD syndrome with different variants involving BCOR gene, in heterozygosity: a seven-years-old girl with an insertion (c.2037_2038dupCT), a nine years-old girl with a microdeletion in the X (p21.2-p11.4)) spanning the BCOR gene; and a 25 years-old female with a deletion (c.3858_3859del). Systemic involvement is variable among patients ranging from one patient mainly with ocular and dental involvement to one with associated intra-auricular and intra-ventricular defects. All the patients presented with congenital cataracts diagnosed in the first days of life. Cataract surgery was performed without incidents between 6 and 16 weeks of age in all the patients. Postoperatively, the three patients developed ocular hypertension and glaucoma with the need for surgical interventions, including trabeculectomy, Ahmed valve implantation, and cyclophotocoagulation. Conclusion: OFCD syndrome characterizes by a severe ocular involvement with glaucoma as a characteristic feature. Ocular hypertension after cataract surgery in these patients is challenging, almost always needing surgery during childhood. Therefore, we consider BCOR disruption may predispose to a higher incidence of glaucoma due to its aggressiveness and early onset on our case series. The awareness of these complications is crucial to an adequate follow-up of the patients.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6