Congenital anophthalmia and microphthalmia are rare developmental defects of the globe. They often arise in conjunction with other ocular defects such as coloboma and orbital cyst. They may also ...

Both had bilateral microphthalmia, congenital cataracts and bilateral inferior colobomas of the iris; neither had light perception. By ultrasound, the proband's eyes had an axial length of 12.0 OD ...

Bosma arhinia microphthalmia syndrome or BAMS is an extremely rare condition associated with facial abnormalities, mainly of the nose and the eye. Mutations in the SMCHD1 gene are the most common ...

The technique could help children with conditions called microphthalmia and anophthalmia, in which they are born with underdeveloped or missing eyes, respectively, the research team says.

Myah Hauxwell was born with severe microphthalmia, also known as small eye syndrome, a condition which causes the eye not to develop during pregnancy (Pictures ...

Ruban Selley was diagnosed with Syndromic Microphthalmia Type-12 in 2019 via DNA testing as part of the 100,000 Genomes Project. Ruban cannot stand or walk unaided and has multiple sight issues ...

A boy from Sidcup has a genetic condition so rare that he is only the fourth person ever to be registered with it in the UK. Ruban Selley was diagnosed with Syndromic Microphthalmia Type-12 in ...