School of Medicine

Translational Vision Research in the Department of Ophthalmology

Genetic Eye Disease - Dr Andrea Vincent

vincent Team Leader - Dr Andrea Vincent

The Genetic Eye Disease Investigation Unit (GEDI) within the Department of Ophthalmology was established in mid 2004 following the return of Dr Andrea Vincent from overseas sub-speciality training in molecular ophthalmology. The overall goal is to perform and provide quality research into genetic eye diseases, to contribute to advancement of knowledge in the global community and to provide New Zealand individuals affected with genetic eye diseases an opportunity for molecular diagnosis.

Both clinical and laboratory based eye genetic research is underway. Within the existing laboratories, an Ocular Genetic laboratory has been created with specialist equipment for molecular genetic techniques, including thermal cyclers for PCR (polymerase chain reaction), a Rotorgene for High Resolution Melting Analysis and qPCR, a DNA storage facility and database, as well as Progeny software for pedigree analysis, with utilization of UOA facilities for sequencing and GWS, and the NZGL based at Otago University for next generation sequencing technology. Access to state of the art imaging modalities and electrodiagnostics exists through the Eye Department at Greenlane Clinical centre.


gedi-1 A maculopathy with a novel mitochondrial mutation, demonstrating the clinical appearance, and unique features on OCT and fundus autofluorescence. The functional effects of the mitochondrial mutations are being characterised in collaboration with a Melbourne Group.

Current research concentrates on 3 main areas:

1. Molecular characterisation of the Corneal Dystrophies and Keratoconus.

These corneal diseases have a strong hereditary component, and keratoconus in particular is one of the main indications for corneal grafting, and is performed at a significantly higher rate in the Maori and Pacific Island populations, and a number of large autosomal dominant pedigrees have been identified within these communities, this research should yield very satisfactory results. Patient recruitment and clinical characterization occurs within Professor McGhee's University special clinics. Mutational analysis of candidate corneal genes has included TGFBI, ZEB1, VSX1, in addition to linkage analysis with genotyping to candidate loci in 2 large pedigrees with chromosomal loci identified. In addition the features of the cornea in connective tissue disorders, such as Marfan and Stickler Syndrome, is also being undertaken.


2. Inherited Retinal Dystrophy research And Establishment of a New Zealand wide registry for inherited Retinal Disease.

This resource incorporates phenotypic and genotypic data, permitting identification of patients should gene or phenotype specific clinical trials become available, and also acts as a superb research resource. The current Ocular Genetics Fellow, Dr Leo Sheck, is undertaking his MD in particular looking at the phenotypic differences observed with imaging modalities in a number of genetically characterised retinal maculopathies, as well as research into the mitochondrial basis of retinal and optic nerve disorders. A collaboration exists with Professor Fulton Wong, Duke University, an authority on retinitis pigmentosa.

gedi-3 Transmission Electron Microscopy (TEM) of renal biopsy in patient with an atypical lattice corneal dystrophy and a heavy chain amyloidosis - fibrillar appearance of the deposits (indicated by arrows) consistent with amyloid.

3. Other projects.

Other research includes the genetics of Glaucoma, and has identified unique NZ pedigrees who may allow identification of further glaucoma genes. In addition local, Australasian (Melbourne, Perth )and International collaborations (Belgium, Northern Ireland, Switzerland, France, Czechoslovakia) exist with research underway into Blepharophimosis syndrome, Inherited Eye Movement disorders, Juvenile Pagets Disease, Mitochondrial dysfunction, and connective tissue abnormalities.


Currently two research technicians, Ms Amanda Richards, and Mr Bryan Hay are employed, and to date, two Ocular Genetic Clinical Research Fellows, and 11 summer students have undertaken projects within the Department, with collaboration with other Clinical Ophthalmology fellows, medical students and Ophthalmology trainees. Further technical and scientific expertise is utilised within the department.

The presence and future of the Ocular Genetic Research Facility within this progressive environment of the Department of Ophthalmology relies on the existing collaborative interaction between clinicians and scientists within the Department,and can only be enhanced by provision of opportunities for multi-disciplinary approaches to resolving the burden of eye disease and vision impairment.

gedi-4 Retinal arterial tortuosity (R fundus and Fluorescein angiography) in the proband of a family with autosomal dominant anterior segment dysgenesis, retinal and intracerebral vascular abnormalities. In collaboration with a French Group the genetic cause is being investigated.

To date financial support has been obtained through the University of Auckland Research Committee, Save Sight Society, Maurice and Phyllis Paykel Trust, School of Medicine Foundation, Glaucoma New Zealand, the Vice Chancellor's Development Fund, Alcon New Zealand, Auckland Medical Research Foundation, The Ombler Trust, and Retina New Zealand.