Phacotrabeculectomy in Treatment of Primary Angle-closure Glaucoma and Primary Open-angle Glaucoma

2004 ◽  
Vol 48 (4) ◽  
pp. 408-411 ◽  
Author(s):  
Jimmy S.M. Lai ◽  
Clement C.Y. Tham ◽  
Jonathan C.H. Chan ◽  
Dennis S.C. Lam
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Angle Closure Glaucoma ◽  
Angle Closure ◽  
Open Angle ◽  
Primary Angle Closure ◽  
Primary Angle Closure Glaucoma

Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma

2021 ◽  
pp. bjophthalmol-2020-318668
Author(s):  
Xueqing Li ◽  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Lei Fang ◽  
Shiqiang Li ◽  
...  
Keyword(s):  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Anterior Segment ◽  
Angle Closure Glaucoma ◽  
Congenital Glaucoma ◽  
Angle Closure ◽  
Open Angle ◽  
Ciliary Process ◽  
Primary Angle Closure ◽  
Primary Angle Closure Glaucoma

Background/AimsThis study aims to assess the contribution of biallelic CPAMD8 variants in patients with different forms of glaucoma, especially primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG), based on a systematic analysis of exome sequencing (ES).MethodsPotentially pathogenic CPAMD8 variants were selected from the ES data of 5307 subjects with various eye conditions through multiple bioinformatics analyses. Of the 5307 subjects, 1221 probands had different forms of primary glaucoma. The genotype–phenotype correlation was assessed by a systematic review of biallelic CPAMD8 variants that including our data and data from the literature. The expression profile of CPAMD8 in human tissues was determined at the mRNA and protein levels.ResultsBiallelic CPAMD8 variants, including one frameshift and six missense variants, were exclusively present and significantly enriched in patients with glaucoma (one with juvenile open-angle glaucoma (JOAG), two with POAG and two with PACG) compared with none of the 4086 probands with other eye conditions in this cohort (p=4.1E-07). The effect of variants in these patients is relatively mild compared with that reported in patients with anterior segment dysgenesis or primary congenital glaucoma. CPAMD8 mRNA was highly expressed in the optic nerve, ciliary body, retina and iris, whereas the CPAMD8 protein was mainly detected in the nonpigmented epithelium of the iris and ciliary process, determined by immunohistochemistry.ConclusionsThe data from this study not only provide further evidence to support the association of biallelic CPAMD8 variants with JOAG but also suggest that biallelic CPAMD8 variants might be associated with POAG and PACG.

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