NOTEWORTHY
 Drs. Viczian and Zuber
Andrea S. Viczian, PhD, Assistant Professor in the Department of Ophthalmology, and Dr. Michael E. Zuber, Associate Professor in the Department of Ophthalmology, have a new article in Development.
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Retinitis Pigmentosa results in gradual deterioration of sight.
Generations of families are impacted, offspring of affected parents have a 50% probability of inheriting the disease.
RP results in gradual deterioration of sight, especially in low light circumstances.
Studies to identify the genetic makeup of RP offer hope for these families.

Retinitis Pigmentosa

Dr. Knox’s work at the Center for Vision Research is nationally recognized, regularly adding to a growing body of knowledge of genetic cell development as it relates to eye disease.

Dr. Barry Knox is learning how to identify types of cells that can develop into RP.

Dr. Knox and his staff of researchers have created a unique method  for studying the genetic material of eyes at the molecular level, and his experiments are bringing together knowledge about which genes need to ‘turn on’ and ‘turn off’ at exactly the right time for normal development of eyesight.

By altering genetic switches in frog embryos (whose genetic eye material is amazingly similar to humans), Dr. Knox studies the effects of mutation on eye development, especially as it relates to timing matters.  This information is laying the foundation to treat inherited eye diseases such as retinitis pigmentosa.  Diseases for which we have no cure.

Dr. Knox’s work at the Center for Vision Research is nationally recognized, regularly adding to a growing body of knowledge of genetic cell development as it relates to eye disease. His work has the potential to dramatically change lives for the better by helping us to understand why RP and other inherited eye diseases  are passed on from generation to generation.  Though a cure for RP is not available today, ongoing support for Dr. Knox’s work ensures that answers will be found sooner than later.

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Why is this research important?

Generations of families are impacted by Retinitis Pigmentosa, where offspring of affected parents have a 50% probability of inheriting the disease.  Studies to identify the genetic makeup of RP offer hope  for these families and an opportunity to lead more productive lives.

To date, many of the genes responsible for the numerous types of RP have been located and their specific defects identified.  Though scientists have some understanding about which cells are associated with RP, a significant barrier still exists in developing therapies to safely introduce genetic material into affected eye cells.  More studies are needed to create transplant techniques to assist in regrowth and replacement of affected cells.

RP results in:

  • Gradual deterioration of sight, especially in low light circumstances
  • Night blindness,  one of the earliest and most frequent symptoms of RP
  • Loss of peripheral vision, or tunnel vision
  • Loss of central vision

What is Retinitis Pigmentosa (RP)?

Learning to live with gradual sight loss is a way of life for more than 100,000 US children and adults diagnosed with retinitis pigmentosa (RP), a hereditary eye disease that affects visual acuity and night vision.  RP is the result of deterioration of the retina, usually emerging  in childhood or early adolescence, though it can develop anytime in a persons’ life.

Complete blindness due to RP is unusual, as most people retain some useful vision well into old age. However, a majority are considered legally blind by age 40, living with limited central vision and night blindness.