The genomic causes of unilateral microphthalmia and anophthalmia
Research type
Research Study
Full title
The genomic causes of unilateral microphthalmia and anophthalmia
IRAS ID
238127
Contact name
Mariya Moosajee
Contact email
Sponsor organisation
Moorfields Eye Hospital NHS Foundation Trust
Duration of Study in the UK
4 years, 7 months, 22 days
Research summary
Anophthalmia (absent eye) and microphthalmia (small eye) are due to problems with the development process of the eye. They account for up to 30% of blindness in children worldwide and the second most common cause in the UK. The ‘instructions’ for eye development are held in our genetic code; if the codes contain mistakes (defects) then ocular maldevelopment can result. We already know of some gene 'defects' but these are mainly in patients where both eyes are affected; very little is known about the unilateral (one-sided) conditions.
In anophthalmia the eye development is aborted early on and no recognisable eye tissue is formed; in microphthalmia an undeveloped eye is formed, sometimes, along with a bag of fluid know as a microphthalmic cyst. Patients with both conditions may need regular operations as part of their routine management and hence biopsies of eye socket/eye tissue will be easy to accommodate into clinical care.
Previous genetic studies of these conditions have not successfully identified defective genes in unilateral conditions but they have tested blood, hair and mouth swab tissue samples i.e. not tissue localised to the eye socket. The gene defect may be somatic, which means that it only occurs in the affected eye tissue and will not be passed on to children as it will not affect sperm and egg. This study will look at tissue from the affected eye sockets of these patients to look for known and new gene defects.
This research study aims to investigate these conditions in detail to help improve our understanding of the causes, and in particular identify any genes that may be responsible. This information will also be helpful guiding the development of future treatments and importantly, inform genetic counselling and family planning.
REC name
East Midlands - Derby Research Ethics Committee
REC reference
19/EM/0232
Date of REC Opinion
13 Sep 2019
REC opinion
Further Information Favourable Opinion