Coloboma News and Research

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Coloboma is a congenital defect that affects the normal structure of the eye, most commonly the eyelid or the iris, causing an absence of part of the eye tissue. It usually affects the upper eyelid and varies from a small notch to a more severe defect of near-total eyelid absence.

Further Reading

Scientific collaboration pinpoints genetic cause of rare form of blindness in newborn babies

Scientific collaboration pinpoints genetic cause of rare form of blindness in newborn babies

A scientific collaboration, involving the Manchester Centre for Genomic Medicine at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine in Naples, Italy, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.

24 Jun 2015

Research: Tumor-suppressing protein linked with CHARGE syndrome

Research: Tumor-suppressing protein linked with CHARGE syndrome

CHARGE, which affects 1 in 10,000 babies, is an acronym whose letters stand for some of the more common symptoms of the condition: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.

4 Aug 2014

Research: Zebrafish exhibits same developmental issues as humans

Research: Zebrafish exhibits same developmental issues as humans

Duke researchers have connected very rare and precise duplications and deletions in the human genome to their complex disease consequences by duplicating them in zebrafish.

18 Oct 2013

Pediatric blindness etiology varies around the globe

Pediatric blindness etiology varies around the globe

The causes and prevalence of blindness in children vary markedly by geography, presumably as a proxy for socioeconomic factors influencing prevention and treatment schemes, conclude the authors of a literature review.

15 Feb 2013

Gene discovery made for infant-onset blindness

Gene discovery made for infant-onset blindness

Researchers have discovered that mutations in the NMNAT1 gene encoding nicotinamide mononucleotide adenylyltransferase 1 are present in patients with Leber congenital amaurosis.

1 Aug 2012

Scientists identify genetic alteration behind anophthalmia

Scientists identify genetic alteration behind anophthalmia

Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes - a condition called anophthalmia.

13 Dec 2011

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