Eye Institute Research Provides New Clues to Family Mystery

Shortly after he was born, Russell was diagnosed with a retinal disorder and his mom, Carla, was told that he would be legally blind. As she sought answers for her son’s diagnosis, Carla immediately saw a connection between his condition and her family history.

“My dad’s parents had blond hair and blue eyes, but both of his sisters were born with brown hair and hazel eyes. Genetically, this shouldn’t be possible,” shares Carla. “When I was little, my sisters and I were seen by specialists due to various vision problems, including abnormal eye movements and crossed eyes. With my light blond hair and blue eyes, I was told that it looked like I had albinism, but my vision wasn’t bad enough.”

Albinism is a group of inherited disorders that results in little or no development of a pigment called melanin, which determines skin, hair and eye colors. As in Russell’s case, albinism can result in vision loss.

Genetic testing revealed that Russell’s albinism was unusual, as he only had one mutation in his gene instead of the typical two. With a bachelor’s degree in genetics, Carla was suspicious that her family carried a unique gene and that different copies of this gene had resulted in varying levels of vision among her relatives.

At a national conference on albinism, Carla learned about the research of Joseph Carroll, PhD ’02, and the Dennis P. Han, MD Advanced Ocular Imaging Program at the Medical College of Wisconsin Eye Institute. Shortly after, Carla and Russell planned a trip to Milwaukee from their home in Kansas.

“The Eye Institute is advancing our understanding of how genetics and anatomy correlate with vision,” says Carla “With the most sensitive scanners, they were able to identify that my son’s eyes look like a standard albinism diagnosis, whereas mine look somewhere in between. Their research is identifying which abnormalities in the eye lead to vision changes and which ones don’t.”

After 75 years, Carla’s family finally has some answers to their mystery. “My whole family – my mom, dad, sisters and cousins – have participated in Dr. Carroll’s research. It’s clear that we have a unique genetic condition that has impacted each of us slightly differently,” Carla explains. “Dr. Carroll has shared that my retina may change our scientific understanding of albinism and how it affects eyesight.”

The Eye Institute offers hope for new therapies that will improve the eyesight of many patients like Russell. “This research has provided better insights on my son’s vision and what we can expect for his future,” Carla says. “Dr. Carroll and his team are wonderful collaborators and are always thrilled to explore my family’s ideas about our genetic history.”

Now 8 years old, Russell as well as his mom will continue to partner with the Eye Institute to advance new diagnostic imaging tools and treatments. “I am so excited to come back in the future and see what else they have learned,” Carla says.

Russell and Carla’s story highlights how much research relies on patients to advance knowledge. When patients participate in clinical and translational research studies, it allows researchers to deepen their understanding of disease processes – critical for advancing the development of therapeutic strategies.