AUTHOR=Sun Jia-Xing , Yan Hong-Xiang , Hu Dan , Zhou Jian , Wang Yu-Sheng , Wu Jing , Song Xiao-Jin , Hou Xu 

TITLE=Biallelic Heterozygous Mutations in Crumbs Homolog-1 Gene Associated With Macular Retinoschisis and Angle-Closure Glaucoma: A Case Report and Literature Review

JOURNAL=Frontiers in Ophthalmology

VOLUME=2

YEAR=2022

URL=https://www.frontiersin.org/journals/ophthalmology/articles/10.3389/fopht.2022.902898

DOI=10.3389/fopht.2022.902898

ISSN=2674-0826

ABSTRACT=<sec><title>Background</title><p>Mutations in the Crumbs homolog-1 (<italic>CRB1</italic>) gene are associated with a variety of retinal degenerations including Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). It is also important to highlight atypical features to make proper diagnosis and treatment.</p></sec><sec><title>Case Presentation</title><p>We present the case of a 7-year-old girl with biallelic heterozygous <italic>CRB1</italic> mutations. The clinical features include macular retinoschisis, Coats-like vasculopathy, short axial length, and angle-closure glaucoma (ACG). We also briefly review the current opinion on <italic>CRB1</italic> mutation-related diseases.</p></sec><sec><title>Conclusion</title><p><italic>CRB1</italic> mutations could result in a combined manifestation in anterior and posterior segments. This case emphasizes the importance of genetic diagnosis for those young patients with complicated rare clinical features to call for a specific treatment and follow-up plan. It also highlights the crucial role of <italic>CRB1</italic> in eyeball development.</p></sec>