Genetics in Ophthalmology

Through thoughtful consideration and detailed examination, imaging, electrophysiology, and family history, ophthalmologists and geneticists can select cytogenetic testing that confirms the clinical diagnosis in more than 50% of patients with retinal dystophies [2]. The authors show that single-nucleotide polymorphisms (SNPs) in CYPF2, a cytochrome P450 enzyme suspected to impair AA metabolism, were more frequent in men with optic neuritis (ON) and multiple sclerosis (MS) and that serum inflammatory cytokines (IL-17a) are elevated in patients with ON and MS. These results suggest that these factors may be associated with predisposition to ON and MS. In the paper by Stafiej et al., the authors explore the levels of TGF-beta2 and VEGF-a expression in epiretinal membranes (ERM) and internal limiting membranes (ILM) from vitrectomy specimens. The team must apply rapidly changing molecular advances in the recent literature to patient care. Because so few individuals are trained and board-certified in all or most of these specialties, a multidisciplinary clinic is a viable alternative to have a single destination for families with inherited ocular disease. In this era of rapid genomics advancements, we face the challenge of interpreting and explaining complex testing options and results to patients. [...]a collaborative, multidisciplinary approach is needed to provide comprehensive and informed care to patients.