Synopsis: With recent access to gene testing, the genotype phenotype correlation picture is evolving. Examples of novel gene mutations causing a particular phenotype, unexpected gene mutations of a known phenotype and extreme phenotype difference within family members will be discussed. Methods of confirming a disease-causing gene defect – Polyphen, SIFT, Muttaster – will be explained.
Clinical examples of variable phenotypes in Peripherin/ RDS (PRPH2), mitochondrial mutations and their pheno- typic overlap with other non-inherited disorders, hetero- zygous ABCA4 and other diseases will be presented. Ancillary testing including electrophysiology and multi- modal imaging features aid in the process. A reasonable combined clinical and genotyping approach towards arriving at a diagnosis of a given patient in a clinical set- ting will be summarised.
Impact on surgical outcomes of primary vitrectomy for rhegmatogenous retinal detachment with and without the use of 360 degree laser retinopexy
Efficacy and safety of intravitreal pegcetacoplan in geographic atrophy: Results from the phase 3 DERBY and OAKS trials