Eye and Brain (Oct 2024)
Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC)
Abstract
Igor Kozak,1,2 Ganeshwaran H Mochida,3,4 Doris DM Lin,5 Syed M Ali,2,6 Thomas M Bosley7 1Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ, USA; 2Research Department, Moorfields Eye Hospital Center, Abu Dhabi, United Arab Emirates; 3Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA, USA; 4Allen Discovery Center for Human Brain Evolution, Boston, MA, USA; 5Division of Neuroradiology, Russel H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA; 6Department of Ophthalmology, Kanad Hospital, Al Ain, United Arab Emirates; 7Wilmer Eye Institute, Johns Hopkins University, Baltimore, MD, USACorrespondence: Igor Kozak, Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ, USA, Tel +1-520-626-2010, Email [email protected]: 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: hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts, junctional adhesion molecule 3 gene, neuroradiology, imaging, eye
