Meet a Specialist: Rachel M. Huckfeldt, MD, PhD

Huckfeldt Rachel 150x225Dr. Rachel Huckfeldt specializes in disorders that affect the retina—a thin tissue in the back of the eye that senses light and sends electrical signals to the brain, representing the first steps in vision. Dr. Huckfeldt’s longstanding interest in retina abnormalities grew out of her PhD research in neuroscience.

“During my ophthalmology residency, I kept returning to retina. I liked the wide breadth of diseases that a retina specialist could encounter in a single day and the ways in which research was advancing treatment options,” she said.

Retina Specialist with Expertise in Inherited Conditions

Today, Dr. Huckfeldt is a member of the Inherited Retinal Disorders (IRD) Service and Retina Service at Mass. Eye and Ear. She cares for patients with common retinal disorders, including age-related macular degeneration, diabetic retinopathy, and retinal vein occlusions. She also has specialized expertise in rare, hereditary retinal disorders that result in gradual vision loss, such as Stargardt disease, retinitis pigmentosa, and choroideremia.

Since many of Dr. Huckfeldt’s patients have these genetic eye diseases, she often takes care of multiple generations within families. She also enjoys seeing patients of all ages. “In a given week, it’s not uncommon for me to see patients ranging from seven to 97 years old,” she says.

For Dr. Huckfeldt, building positive and lasting relationships with her patients is important. “I want to make sure that my patients understand their diseases, as well as our treatment goals for conditions like age-related macular degeneration,” she said. For her patients with genetic diseases, Dr. Huckfeldt also views these clinic visits as an opportunity to discuss potential therapies that are being studied in preclinical and clinical trials—particularly those that might be relevant to an individual patient.

Research Aims to Improve Patient Care

Dr. Huckfeldt is actively studying potential vision-saving therapies for inherited retinal degenerations, such as choroideremia, in clinical trials. She notes that, “Strategies like gene therapy may transform how we view these presently incurable diseases.”

Dr. Huckfeldt is also interested in better understanding cystoid macular edema, which can cause blurred or decreased central vision in up to 25 percent of patients with retinitis pigmentosa. This problem can worsen vision in patients with retinitis pigmentosa because normally, central vision would be preserved until later stages of the disease. Dr. Huckfeldt hopes her research will provide important insight into potential causes and more effective treatments for cystoid macular edema.

Teaching Future Leaders in the Field

In addition to seeing patients and performing research, Dr. Huckfeldt mentors ophthalmology residents and fellows. “I enjoy showing them how genetic research and retinal imaging have advanced our understanding of inherited retinal degenerations,” she said. “Researchers have made substantial progress in identifying genes linked to these disorders and exploring new treatment strategies. And trainees will continue to see major advancements throughout their careers.”

View Dr. Huckfeldt's online bio.

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