Background To assess the relationship between peripheral anterior chamber depth and anthropomorphic measurements. Methods The Beijing Eye Study 2006 included 3251 (73.2%) subjects who returned for a followup examination after a baseline examination including 4335 subjects in 2001. The peripheral anterior chamber depth was estimated by slit lamp-assisted biomicroscopy using van Herick's method. Measurements of the body height and weight and assessment of the anterior chamber as inclusion criterion for this study were available for 3191 (98.2%) subjects.Results In a multivariate analysis, a shallow peripheral anterior chamber was significantly associated with higher age (Po0.001), female gender (Po0.001), and shorter height (Po0.001), whereas weight (P ¼ 0.97) and body mass index (P ¼ 0.82) were not significantly associated. Conclusions The peripheral anterior chamber depth was inversely correlated with height, ie, a shallow peripheral anterior chamber may be expected with a higher frequency in short subjects than in tall subjects. Height, in addition to higher age and female gender, may be taken as one of the parameters for screening of subjects being at risk for primary angleclosure glaucoma.
Background Congenital fibrosis of the extraocular muscles (CFEOM) is a rare hereditary nonprogressive disorder characterized by bilateral ptosis, which shows severely limited ocular motility. We reported a new mutation site of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type 1 (CFEOM1).Methods A retrospective study of case series was conducted in this study. Standard ocular examinations were performed on 10 family members in a CFEOM1 family. Next-generation sequencing (NGS) was performed to sequence 828 genes related to oculopathy. The splice sites of the KIF21A gene were analyzed to detect the existence of mutations.Results The five patients with CFEOM1 were found in the family members of a Chinese family on three generations. A new KIF21A pathogenic SNP mutation site KIF21A-ex20 c.2821C > T (p.Arg941Trp) was identified by comparing with human genome reference genes and Sanger sequencing. .Conclusions A new KIF21A pathogenic SNP mutation site KIF21A-ex20 c.2821C > T (p.Arg941Trp) could possibly be a major disease‑causing gene for the Chinese family with CFEOM1.
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