Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC)

Igor Kozak; Ganeshwaran H Mochida; Doris D M Lin; Syed M Ali; Thomas M Bosley

doi:10.2147/EB.S419663

Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC)

Eye Brain. 2024 Oct 23:16:55-63. doi: 10.2147/EB.S419663. eCollection 2024.

Authors

Igor Kozak^{1

2}, Ganeshwaran H Mochida^{3

4}, Doris D M Lin⁵, Syed M Ali^{2

6}, Thomas M Bosley⁷

Affiliations

¹ Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ, USA.
² Research Department, Moorfields Eye Hospital Center, Abu Dhabi, United Arab Emirates.
³ Division of Genetics and Genomics and The Manton Center for Orphan Disease, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
⁴ Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
⁵ Division of Neuroradiology, Russel H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁶ Department of Ophthalmology, Kanad Hospital, Al Ain, United Arab Emirates.
⁷ Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD, USA.

Abstract

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare syndrome caused by biallelic mutations in the JAM3 gene with significant intrafamilial variability in clinical presentation and brain imaging phenotypes. The clinical presentation of HDBSCC includes severe recurrent hemorrhages involving the brain parenchyma and the ventricles beginning in utero and continuing in infancy together with dense central cataracts present at birth. This comprehensive review documents reported cases on this unique condition and describes its genetic, neuroradiologic and ophthalmic features. It should be included in the differential diagnosis of children with congenital cataracts and neurodevelopmental abnormalities. Unique clinical, imaging findings and genetic testing can help the diagnosis.

Keywords: eye; hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts; imaging; junctional adhesion molecule 3 gene; neuroradiology.

Publication types

Review