Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations

Abe, Ricardo Y.; Makarczyk, Luciana de Sá Quirino; Ávila, Marcos Pereira de; Sallum, Juliana Maria Ferraz

doi:10.5935/0004-2749.20220078

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2022

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“…( 23 ) and Abe et al. ( 24 ) have described cases with CRB1 -associated RP combined with primary ACG. Therefore, it is indicated that CRB1 mutation may account for the girl’s short axial length, crowded anterior segment, and ACG.…”

Section: Discussionmentioning

confidence: 99%

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

Sun

Yan²,

Hu³

et al. 2022

Front. Ophthalmol.

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BackgroundMutations 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 PresentationWe 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.ConclusionCRB1 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.

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Section: Discussionmentioning

confidence: 99%