A mum and dad from Watford welcomed twin girls Maeve and Orla at 36 weeks on 8 April, 2024. Everything 'seemed normal', according to mum Darrah O’Sullivan, 28, and her fiance, Vince Greenaway ...

Electroretinograms, however, are usually not detectable in Leber congenital amaurosis, and signals from a small region treated with gene therapy might be lost in noise. For this study, 7 investigators ...

The following day, doctors diagnosed Maeve with bilateral anophthalmia, a condition where a baby is born without eyes. It affects approximately one in 100,000 births, according to the NHS.

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Scientists at the Icahn School of Medicine at Mount Sinai and ...

The new research showed the share of infants who died from congenital anomalies rose significantly in states with abortion bans, suggesting a disproportionate rise in the number of women who are ...

However, babies and children can be born with cataracts, or they may develop them as they age. A congenital cataract causes the same symptoms as adult cataracts—a clouding in the lens of the eye that ...

ucl.ac.uk Background/aims Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of ...

The PAX6 gene plays an important role in ocular development. Mutations of the PAX6 gene may result in a series of ocular abnormalities, including congenital aniridia, anterior segment dysgenesis (ASD) ...