A UF Health ophthalmologist works toward a possible treatment for inherited retinal diseases.
Hundreds of patients fill the exam rooms at UF Health Ophthalmology – Jacksonville every week to receive care for a variety of eye conditions, such as cataracts, diabetic eye disease and glaucoma. Monday mornings, however, one clinic is reserved for a much smaller group living with rare inherited retinal diseases.
“Most people have never heard about the diseases that I deal with, such as retina pigmentosa, Stargardt disease and Leber congenital amaurosis,” said Sandeep Grover, MD, associate chair of ophthalmology. “Most of these conditions are progressive, with some eventually leading to blindness. Unfortunately, there are no treatments for most of them.”
An inherited retinal disease is a type of eye disorder caused by a gene mutation that affects the retina, or the light-sensing cells in the back of the eye. These conditions can affect a patient’s vision in different ways, including night-blindness, tunnel vision, impaired center vision or seeing distortions of lines and shapes, and some ultimately leading to blindness.
“When I have to tell parents their child has Leber congenital amaurosis and that they won’t be able to see well for the rest of their life and we don’t have any treatments, that can be very devastating for a couple to hear,” Grover said. “But I also get to tell them that they are not alone. There are other families with children who also have it and they are members of a community and support system through the Foundation Fighting Blindness. It’s the reason I helped start the Jacksonville chapter.”
The Foundation Fighting Blindness is the world’s leading private funder of inherited retinal disease research. On an annual basis, the Foundation Fighting Blindness and the Foundation’s Clinical Research Institute finance more than 100 research grants. This year, the Jacksonville chapter held its 10th annual VisionWalk, one of the foundation's signature events. Grover participates every year with his team Drishti, meaning vision, in support of the families affected by inherited retinal diseases in the region.
“There are various fronts in inherited retinal disease therapy,” Grover said. “Some of the ongoing research involves gene therapy, stem cell treatment or retinal pigment epithelium cell transplant.”
Grover is currently working to bring Luxturna to UF Health Ophthalmology – Jacksonville. It is the first gene therapy treatment approved by the Food and Drug Administration for one kind of Leber congenital amaurosis and the only treatment approved so far to treat an inherited retinal disease. Currently, there are nine health care centers across the United States staffed with retina surgeons trained to administer the drug through an injection into the eye. The closest center to Jacksonville is in Miami.
“UF Health Jacksonville was one of only 10 centers in the past to administer an experimental eye treatment for retinitis pigmentosa, and I am hoping we can participate with this treatment at some point.” Grover said.
He hopes this is the first of other medical breakthroughs to come that will one day slow the progression or even reverse it and prevent patients from going blind.
“This particular gene treatment is the first to surface,” Grover said. “It took about 20 to 25 years for this treatment to be proven effective and approved. I think this has paved the way for other forms of treatment that will come faster and hopefully eradicate blindness from inherited retinal diseases.”
For more information about UF Health Ophthalmology – Jacksonville, visit UFHealthJax.org/ophthalmology or call 904.244.9390.
Associate Chair, Department of Ophthalmology; Medical Director, Ophthalmology Trauma Service; Clerkship Director