Background: Mutations in the Crumbs homolog-1 () 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 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 mutation-related diseases.

Conclusion: 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 in eyeball development.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182100PMC
http://dx.doi.org/10.3389/fopht.2022.902898DOI Listing

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