Genetic basis for heritable Normal Tension Glaucoma
Research type
Research Study
Full title
Identifying the genetic basis for heritable Normal Tension Glaucoma, with a focus on mitochondrial function
IRAS ID
241569
Contact name
David Garway-Heath
Contact email
Sponsor organisation
Moorfields Eye Hospital NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 0 days
Research summary
Glaucoma is a neurodegenerative disease of the optic nerve and is the leading cause of irreversible blindness worldwide. While raised eye pressure is the main risk factor for glaucoma, patients with glaucoma deteriorate at all levels of eye pressure and despite eye pressure lowering, suggesting that other factors confer susceptibility. A common type of glaucoma, where such factors are likely to play an important role, is normal tension glaucoma (NTG). This is characterised by damage to the nerve of sight – optic nerve head cupping and loss of peripheral vision – in the presence of normal eye pressure. The optic nerve head cupping is linked to loss of key cells for vision called retinal ganglion cells (RGCs). RGCs are highly energy dependent and therefore rely heavily on the cells’ powerhouses, called mitochondria, for their survival. Mitochondrial function is, to a large extent, genetically determined and to this date it is unclear what role systemic (measured in peripheral blood) mitochondrial function plays in the development of NTG and how systemic mitochondrial function correlates with genetic (DNA) defects in NTG patients.
This project has the following objectives:
(i) to explore whether NTG patients have lower systemic mitochondrial function when compared to unaffected family members controls.
(ii) to identify genetic region(s) or genetic markers associated with low mitochondrial function in familial NTG
(iii) to understand whether these genetic regions/markers are also implicated in NTG in a separate, well characterised patients without a family history.
Determining the role of mitochondrial function and genetics in glaucoma development may uncover novel treatment targets for protecting the optic nerve and preventing or delaying vision loss in glaucoma, and identify clinically useful markers to identify which patients will benefit most from which treatment.REC name
Wales REC 6
REC reference
18/WA/0411
Date of REC Opinion
13 Dec 2018
REC opinion
Further Information Favourable Opinion