A multidisciplinary ophthalmic genetics clinic (MOGC) at the Kellogg Eye Center, University of Michigan, has successfully diagnosed a wide range of inherited diseases and provided genetic diagnoses for many patients. This integrated approach has led to the proper diagnosis of challenging cases, the discovery of new conditions, and contributions to genetic research. The MOGC team consists of an ophthalmic geneticist, a medical geneticist, and a genetic counselor. Advances in genetic testing have expanded the diagnostic capacity for genetic disorders, ranging from targeted tests to whole exome sequencing and chromosomal microarray. The MOGC uses a patient-centric integrated workflow and has achieved a 76% uptake for genetic testing, with a diagnostic yield in 33% of cases. Some patients declined genetic testing due to personal, financial, or logistical reasons. The study included several case examples, such as an 11-year-old boy with syndromic optic neuropathy whose symptoms were seemingly unrelated until a pathogenic variant was identified. Another case involved a 5-month-old patient with familial anterior segment dysgenesis whose diagnosis was confirmed through panel-based genetic testing. The MOGC’s integrated approach allows for lower use of healthcare resources and faster turnaround times. By combining ophthalmic care with medical genetics and counseling, the MOGC not only solves individual patient diagnostic challenges but also contributes to genetic discoveries and targeted therapeutics research for the larger population.

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