Francis Carbonaro

TL;DR: The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.

TL;DR: GAS7 and TMCO1 are highly expressed in the ciliary body and trabecular meshwork as well as in the lamina cribrosa, optic nerve, and retina, and both genes functionally interact with known glaucoma disease genes.

TL;DR: A genome-wide association study in two Australian twin cohorts and identified rs3858145, P = 6.2 × 10−10, near the ATOH7 gene as associated with the mean disc area, known from studies in model organisms to play a key role in retinal ganglion cell formation.

TL;DR: Analysis of 2301 twin pairs confirms that the twin study design results in a very low estimate of shared family environmental effects in refractive error, which means twin study designs have more power to detect heritable effects in variance component models of myopia, whereas family studies have morePower to detect shared environment effects.

TL;DR: It is found that MFN1 and PSARL both interact with OPA1 to regulate mitochondrial fusion and the inhibition of mitochondrial-led apoptosis, respectively, which is likely to provide novel insight into the molecular genetic basis of common myopia.