S+S, Spring 2025
Orphan eye conditions present several unique challenges but addressing them is just par for the course at the Department of Ophthalmology at the UPMC Vision Institute.
An orphan eye condition is a rare eye disorder that affects a small number of individuals, typically fewer than 200,000 people in the United States, according to Dr. Joseph Martel, Assistant Professor of Ophthalmology and Vice Chair, Patient Experience and Access. Several inherited retinal degenerations fall under this designation, for example.
The challenges include genetic complexity as many have diverse genetic causes with hundreds of potential mutations; small patient populations, which make clinical trials difficult to organize and less financially viable; slow disease progression, which complicates measuring treatment efficacy in clinical trials; and limited research funding, as less common conditions often attract less investment.
It is important to research and focus on orphan eye conditions for several reasons. They have a significant impact on quality of life. Researching rare genetic eye conditions often leads to broader understanding of eye biology and disease mechanisms. And there is an ethical imperative, “ensuring healthcare advances benefit everyone, not just those with common conditions,” Dr. Martel said. Last, but not least, “with improved genetic testing and diagnostic capabilities, there’s theorical opportunity to intervene before significant vision loss occurs.”
To that end, the Vision Institute boasts a multidisciplinary retinal dystrophy clinic, which integrates retina specialists, ophthalmic genetic counselors, and low vision therapy optometrists. A low vision rehabilitation team helps patients maximize their remaining visual capabilities. The Vision Institute is participating in innovative studies to better understand these diseases as well as evaluating different approaches, including gene therapies. And the Vision Institute is also involved in the Foundation Fighting Blindness’ “UNIRARE” study.
To schedule an appointment, call 412-647-2200.