Background: Mutations in the Crumbs homolog-1 (CRB1) 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. Case Presentation: We present the case of a 7-year-old girl with biallelic heterozygous CRB1 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 CRB1 mutation-related diseases. Conclusion: CRB1 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 CRB1 in eyeball development.
CITATION STYLE
Sun, J. X., Yan, H. X., Hu, D., Zhou, J., Wang, Y. S., Wu, J., … Hou, X. (2022). Biallelic Heterozygous Mutations in Crumbs Homolog-1 Gene Associated With Macular Retinoschisis and Angle-Closure Glaucoma: A Case Report and Literature Review. Frontiers in Ophthalmology, 2. https://doi.org/10.3389/fopht.2022.902898
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