A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita

A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opacity which was localised at the posterior stromal depth in the central cornea. Unlike the two previously reported cases of diffuse and nodular patterns of corneal opacity in SEDC, the current case exhibited a rare form of corneal opacity. SEDC is one of the type II collagenopathies, characterised by dwarfism because the mutations in COL2A1 prevent bone growth. Although the existence of type II collagen has not been reported in the human corneal stroma, the aetiology of the opacity in the corneal stroma in SEDC type II collagenopathy is of interest

The Influence of Low Energy Availability on Bone Mineral Density and Trabecular Bone Microarchitecture of Pubescent Female Athletes : A Preliminary Study

The influence of low energy availability (LEA) on bone mineral density (BMD) and trabecular bone microarchitecture in pubescent female athletes is unclear. This study aimed to investigate the influence of LEA on BMD and trabecular bone microarchitecture in 21 pubescent female athletes (age, 12-15 years; 11 track and field athletes, 10 gymnasts). We used two indices to assess LEA: energy availability and the percent of ideal body weight. Dual-energy X-ray absorptiometry was used to obtain total body less head, lumbar spine BMD Z-scores, and lumbar trabecular bone scores (TBS). Pearson's or Spearman's correlation coefficients were used to assess the relationship among EA, percent of ideal body weight, and bone parameters. The threshold for statistical significance was set at p < 0.05. The percent of ideal body weight was significantly correlated with the BMD Z-scores of the total body less head (r = 0.61; p < 0.01), lumbar spine (r = 0.55; p < 0.01), and lumbar TBS (r = 0.47; p = 0.03). However, energy availability was not correlated with bone parameters. These findings suggest that screening for low ideal body weight may be a useful predictor of low BMD and insufficient trabecular bone microarchitecture in pubescent female athletes