Genetics of Leber hereditary optic neuropathy (access to 'Chromoscope' data platform)

Study code

Lead researcher
Prof. Lucy Raymond

Study type
Data only

Institution or company
University of Cambridge (Cambridge Institute for Medical Research)

Researcher type

Speciality area
Children and Young People, Neurological Disorders, Genomics and Rare Diseases

Recruitment Site
N/A (data only)


Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the British population. It is characterised by bilateral subacute loss of central vision owing to focal degeneration of the retinal ganglion cell layer and optic nerve.


Editors note:

The researchers behind this study are looking to further understand the genetic basis of this condition through accessing data on genotypes related to Leber hereditary optic neuropathy held on the University of Cambridge’s 'Chromoscope’* data platform.

* ‘Chromoscope’ is a data platform used by researchers wishing to analyse rare genetic variants. For the NIHR Bioresource Rare Disease Project, DNA from consenting participants was collected and their genetic information was stored for future research use.  In order for this data to be anonymously accessed for research purposes the NIHR BioResource created an application called ‘Chromoscope’ (previously known as ‘Gene Docs’).  ‘Chromoscope’ allows approved researchers to access this genetic data. Before access is given researchers must submit an application to the NIHR BioResource requesting access. The BioResource reviews these applications and if approved, researchers are given access to the required anonymised data.