Four-year-old Leo Goins, of Grand Rapids, Michigan, was just an infant when his pediatrician noticed something unusual in his right eye during a routine examination. This discovery prompted a referral to the U-M Kellogg Eye Center. Upon arrival at Kellogg, Leo was seen by Pediatric Ophthalmologist Adam Brent Jacobson, M.D., Clinical Assistant Professor of Ophthalmology and Visual Sciences. The comprehensive exam uncovered not only a congenital cataract, but also unusual spots on the retina. As a result, Leo was referred to Pediatric Retina Specialist Cagri Besirli, M.D., Ph.D., Associate Professor of Ophthalmology and Visual Sciences. “During Leo’s clinic examination, I observed developmental abnormalities in both eyes, with the right eye more significantly affected,” says Dr. Besirli. “Based on these findings, I recommended a detailed evaluation under anesthesia, which confirmed our initial observations and suggested a possible genetic cause. We also decided that Leo would need regular follow-up visits so that we can catch any changes early and act quickly to prevent future complications.” Next, Leo was seen by a team of experts at the Kellogg Multidisciplinary Ophthalmic Genetics Clinic (MOGC), which specializes in identifying the genetic causes of complex eye and systemic conditions in patients with inherited ocular conditions. The MOGC team includes an ophthalmic geneticist, a medical geneticist, and a genetic counselor. At the clinic, Leo met with Lev Prasov, M.D., Ph.D., Assistant Professor of Ophthalmology and Visual Sciences and Assistant Professor of Human Genetics; and Amanda Pritchard, M.D., Clinical Associate Professor of Pediatrics, Division of Pediatric Genetics, Metabolism, and Genomic Medicine. Through collaborative efforts, the team identified a rare genetic variant in a gene known as KIF11, which causes a condition called microcephaly with chorioretinopathy. Microcephaly is a condition where a baby’s head is noticeably smaller than expected, most often due to abnormal brain development. The disorder can range from mild to severe, with a higher risk of developmental delays and vision problems. Chorioretinopathy is a condition involving damage to the retina and the blood vessel layer beneath it, called the choroid. When it occurs, it can result in punched-out scars or damaged patches in the retina that cause visual impairment. “Leo had a history of a small head size and I noted some subtle puffiness of the hands and feet, which in combination with the ophthalmologic observations of Dr. Prasov and Dr. Jacobson, raised our concern for a genetic variant in KIF11. We were able to coordinate targeted testing and confirm a genetic diagnosis within a few weeks,” says Dr. Pritchard. “It is crucial to have a comprehensive understanding of the ophthalmologic findings when considering genetic conditions. Seeing the patient together at one visit makes it easier for families to have input from our whole team, including pediatric genetics, ophthalmic genetics, and genetic counseling, all at once.” Dr. Jacobson notes that Drs. Prasov and Pritchard identified the KIF11 gene change by looking for physical cues beyond the normal scope of ophthalmologists. “This brilliant diagnosis was made possible because the genetics team looked beyond the eyes to other physical cues, such as head circumference and pitting edema, a condition where fluid accumulates in the tissues, causing swelling that leaves indentations when pressed.” Dr. Jacobson continues to provide regular ophthalmic monitoring, particularly for glaucoma, which can be treated if detected early. “Given the severity of the retinal findings in the right eye, my role is to help make sure that the left eye stays as healthy as possible and continues to develop normally,” he notes. Early collaboration enabled the multidisciplinary team to identify associated risks such as developmental delays, epilepsy, and lymphedema and to guide treatments for better outcomes. “It’s critical to get early intervention to help young patients appropriately develop and improve learning,” says Dr. Prasov. “The importance of teamwork and proper communication with referring physicians and the patient’s family is absolutely essential. Large genetic studies require broad collaboration. It really takes a village.” To expand this type of multidisciplinary care to other patients and families, Drs. Prasov and Jacobson are leading the development of Kellogg’s Wadhams Family Center for Children's Vision. Multiple specialties continue to be involved in Leo’s care and ongoing genetic monitoring. His parents, Erika and Zach Goins, have been regularly traveling from Grand Rapids to the Kellogg Eye Center in Ann Arbor for Leo’s care since 2021, attending appointments every six months. “Kellogg has been absolutely incredible. They have delivered 100 percent,” says Zach. “Every time we go in for an exam or a procedure, it’s always with the same doctors. Leo knows each one of them by name. As parents, that's huge for us.” This spring, Leo underwent a retina examination under anesthesia, coordinated with both pediatric ophthalmology and pediatric retina teams. “We were able to do Leo’s needed retina exam and provide his prescription for glasses during the same visit,” says Breanna Marie Tracey, M.D., Clinical Instructor of Ophthalmology and Visual Sciences. Erika and Zach’s optimism for the future is tempered by realism, and shaped by ongoing support from trusted multidisciplinary medical teams. “We are very grateful for the care and compassion Leo has received at the Kellogg Eye Center,” says Zach. As a proud father, he shared a recent moment that highlights both his son’s vision and spirit. “Leo said to me, ‘Dad, did you see that John Deere mower in that garage over there?’ I asked him how he knew it was a John Deere. Leo replied, ‘It's green.’”