Study Focuses on Understanding Corneal Endothelial Dystrophies

Source: University at Buffalo

A team led by Mark D. Parker, PhD., assistant professor of physiology and biophysics, has been awarded funding from the National Institutes of Health to study endothelial membrane transport proteins in the cornea.

The 5-year, nearly $2 million grant is funded through the National Eye Institute (NEI).

Research Concentrates on Corneal Endothelium

The cornea is the transparent, outermost layer of the eye that allows the passage of light into the eye and promotes the focusing of light onto the retina. It is composed of a collagen matrix (stroma) sandwiched between two cell layers: the epithelium and the endothelium.

The corneal endothelium pumps fluid out of the cornea to maintain the stroma in an optimally hydrated and healthy state, says Dr. Parker, the grant’s principal investigator.

“Diseases of the endothelium can cause the cornea to become swollen and cloudy, resulting in vision loss,” he notes.

Studying How Protein Mutations Cause Vision Loss

Dr. Parker says the research aims to understand how the endothelial membrane transport proteins SLC4A11 (that conducts protons) and SLC4A4 (that transports sodium and bicarbonate) help to maintain corneal hydration and transparency.

Specific aims of the study, titled “Investigating the Action and Physiological Role of SLC4A11 in the Cornea,” are:

  • understanding the factors that regulate SLC4A11 and SLC4A4 action
  • elucidating how SLC4A11 loss leads to endothelial dystrophy

“Ultimately, we want to gain an understanding of why SLC4A11 and SLC4A4 mutations cause vision loss,” Dr. Parker says.

Seeking Therapies to Prevent Corneal Transplants

The current treatment paradigm for corneal disease is transplant, which is associated with the traditional challenges of donor availability, viability of stored corneas and allograft rejection, as well as technical challenges in pediatric patients.

Dr. Parker says the research project is aligned with the mission of the Corneal Diseases Program of the NEI, which is to apply knowledge from basic science discoveries to the understanding of the physiology of the cornea and to the treatment of corneal diseases such as Fuchs’ dystrophy and congenital hereditary endothelial dystrophy.

“The work may inspire novel molecular therapies that could obviate the need for corneal transplants,” he says.

Duffey and Patel Are Study Co-Investigators

Dr. Parker also has an appointment with the Department of Ophthalmology.

Co-investigators on the study from the Jacobs School of Medicine and Biomedical Sciences are:

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