Increased serum sialic acid in diabetic retinopathy of type 1 diabetes

AIM: To investigate the potential association between serum sialic acid and diabetic retinopathy and its several grades.<p>METHODS: We studied the level of serum sialic acid in 70 patients. Thirty control <i>vs</i> 40 type 1 diabetics and with different levels of diabetic retinopathy as well. <p>RESULTS:We found higher levels of serum sialic acid level in diabetics compared to control subjects(95.95±9.5 <i>vs</i> 45.05±19.91mmoL/L, <i>P</i>=0.0001). We also observed a progressive rise in its concentration as the level of diabetic retinopathy increased(<i>P</i><0.05)but the correlation was weak. Serum sialic acid level correlated positively with blood glucose level(<i>r</i>=0.67, <i>P</i>=0.0001).<p>CONCLUSION: Increase in serum sialic acid levels seems to be related to the stage of the retinopathy and may help us to determine the extent of retinopathy in type 1 diabetic patients. But we think that we need more detailed studies to get a more precise conclusion

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed with multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus. Most of these clinical features overlap with defects in the Norrin/β-catenin signalling pathway that is characterized by dysgenesis of the retinal and hyaloid vasculature. Our findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye. This work also provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression