An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention.
BACKGROUND
There has been an exponential increase in the number of genes implicated in inherited retinal disease over the last decade, but the genetic and phenotypic heterogeneity limited mutation detection. The high cost of sequencing and long turn around times meant that gene testing was not a viable option, particularly in New Zealand. Recently, advancements including development of micro-array-based mutation analysis and non-for-profit laboratories have resulted in affordable and time-efficient testing. This has enabled genetic diagnostics to become an integral component of the work-up for inherited retinal disease.


METHODS
Genetic testing for inherited retinal disorders was initiated via the Ocular Genetic Clinic in Auckland 2 years ago. A retrospective audit of genetic testing over this period was carried out. The results of these tests and outcomes are discussed.


RESULTS
Thirty-five probands have undergone genetic testing for retinal disorders. This has included X-Linked Retinoschisis, Leber Congenital Amaurosis, Retinitis Pigmentosa, Albinism, Achromatopsia, Usher syndrome, Stargardt disease and Mitochondrial disease. Of these, 54% of tests (19/35) showed a rare variant or pathogenic mutation. Three couples have proceeded to investigate the options of prenatal diagnosis and/or pre-implantation genetic diagnosis.


CONCLUSIONS
The introduction of genetic testing, largely via disease arrays, has been highly successful at clarifying disease genotype in our cohort. It is now a timely and cost-effective investigation that should be elemental to the assessment of inherited retinal disease. Genetic testing in an opportune fashion permits genetic counselling, enables families to make reproductive choices and might allow the possibility of gene therapy interventions.
Pradhan
Monika
M
Department of Ophthalmology, University of Auckland, Auckland, New Zealand.
Hayes
Ian
I
Vincent
Andrea
A
D000293:Adolescent; D000328:Adult; D002648:Child; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008485:Medical Audit; D046228:Microarray Analysis; D025202:Molecular Diagnostic Techniques; D010641:Phenotype; D012164:Retinal Diseases / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult