Congenital cataract-microcornea syndrome (CCMC) is a clinically and genetically heterogeneous condition characterized by lens opacities and microcornea. It appears as a distinct phenotype of heritable congenital cataract. Here we report a large Chinese family with autosomal dominant congenital cataract and microcornea. Evidence for linkage was detected at marker D22S1167 (LOD score [Z]=4.49, recombination fraction [θ]=0.0), which closely flanks the â-crystallin gene cluster locus. Direct sequencing of the candidate âB1-crystallin gene (CRYBB1) revealed a c.387C>A transversion in exon 4, which cosegregated with the disease in the family and resulted in the substitution of serine by arginine at codon 129 (p.Ser129Arg). A comparison of the biophysical properties of the recombinant β-crystallins revealed that the mutation impaired the structures of both βB1-crystallin homomer and βB1/βA3-crystallin heteromer. More importantly, the mutation significantly decreased the thermal stability of βB1/βA3-crystallin but not βB1-crystallin. These findings highlight the importance of protein-protein interactions among β-crystallins in maintaining lens transparency, and provide a novel insight into the molecular mechanism underlying the pathogenesis of human CCMC. © 2011 Wiley-Liss, Inc.

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Fuchs' endothelial dystrophy is a common type of posterior CD characterized by the development of gutta in the Descemet membrane. Recently, TCF4 was considered as a major risk gene for European FED cases. However, another recent report has shown that rs613872 was not associated with Singaporean Chinese FEDs. Recent reports indicate the genotypic heterogeneity of FEDs in different ethnic populations. It is thus essential to understand whether these genes affect the occurrence of FEDs and non-Fuchs' CD in the local population. In the present study, we screened several reported SNPs (rs2286812, rs17595731 and rs613827 in TCF4; rs7640737 and rs2292245 in PTPRG) in FED and non-Fuchs' patients with corneal dystrophies of southern Chinese.

Anophthalmic patients not only cause obvious functional deficits and facial deformities, but lead to poor psychological outcomes, although prosthesis wearing can offer improvements in psychological well-being to some extent. The study aimed to comprehensively evaluate the psychological symptoms and analyze related factors in anophthalmic patients wearing ocular prosthesis. Total of 150 anophthalmic patients and 120 control subjects were included in this cross-sectional study. Baseline characteristics survey and the symptom checklist-90 scale were completed by all participants to assess the psychological symptoms and analyze their related factors by multivariate analysis. The anophthalmic patients exhibited the increased levels of somatization, depression, anxiety, and hostility compared with control subjects. The most prominent symptom was hostility with the median score of 1.20. Female patients presented with higher somatization, depression, anxiety, and hostility. Marital status single was positively associated with depression, anxiety, and hostility symptoms. Lower education and cause of enucleation were related to higher levels of hostility. Anophthalmic patients wearing ocular prosthesis presented with more prominent hostility and somatization besides its higher depression and anxiety symptoms. The findings suggest that for female single anophthalmic patients with low education, especially caused by trauma, timely psychological assessment and intervention should be provided to avoid undesirable consequences.

We report a novel mutation (p.G112E) in the BFSP2 gene, underscoring the physiological importance of the beaded filament protein and supporting its role in human cataract formation.

A recurrent ΔG91CRYBA1/A3 mutation occurs independently in 6.4% of the Chinese families with autosomal dominant nuclear cataracts and most likely represents a mutational hot spot, which underscores the relations between nonprogressive nuclear cataract and CRYBA1/A3.

Extensive adherences among the extraocular muscles, posterior Tenon's capsule, and globe may partially explain the cause of congenital monocular strabismus fixus and why strabismus surgery was ineffective. The findings further highlight the importance of MRI in detecting and characterizing atypical forms of strabismus. [J Pediatr Ophthalmol Strabismus. 2018;55(6):363-368.].

This study identified a novel cataract-microcornea phenotype caused by the recurrent mutation p.R116H in CRYAA, and suggested that this mutation site is not likely the consequence of a founder effect, but probably a result of a mutational hot spot.