Dr Minal Patil is an ocular genetics and paediatric ophthalmology Fellow at the University of Auckland under the supervision of A/Prof Andrea Vincent and Dr Sarah Hull. Her current research focuses on the diagnosis and genotypic evaluation of IRDs in both paediatric and adult populations. Her recent work, published in Ophthalmic Genetics, characterises novel genetic mutations in IRD in Pacific Island populations. Associate Professor Andrea Vincent is a clinician-scientist at the University of Auckland, practising at Greenlane Eye Department and at Retina Specialists. She established and leads the Eye Genetic team, and is the principal investigator for the Myrtle OPA1 trial and the Abacus-2 Optogenetic trial in New Zealand.
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Inherited retinal disorders (IRDs) comprise a heterogeneous group of diseases characterised by diverse modes of inheritance, including autosomal dominant, autosomal recessive, X-linked (recessive and dominant), mitochondrial inheritance and less common patterns, such as pseudodominance. This genetic