RetGen

According to the paper, patients in the study each had a mutation in which a defect in the process responsible for handling carbon dioxide waste and maintaining acid and base balance led to photoreceptor degeneration.

Zhang [one of the paper's senior authors] says the mutation inhibits function of a protein complex made up of carbonic anhydrase 4 (CA4) and Na+/Bicarbonate Co-transporter1 (NBC1) from doing its job of controlling acid and base balance. "In healthy eyes this acid waste is released from the retina and into the bloodstream via tiny blood vessels called the choriocapillaris which are located adjacent to the photoreceptors. When this doesn't happen, we see the death of photoreceptor cells and the start of retinitis pigmentosa," said Zhang.

The study also suggests additional research is needed to determine whether carbonic anhydrase inhibitors may affect vision. According to the study, "the importance of a functional CA4 for survival of photoreceptors implies that carbonic anhydrase inhibitors, which are widely used as medications, particularly in the treatment of glaucoma, may have long-term adverse effects on vision."
'University Of Utah Study Suggests Cellular Waste To Blame For A Form Of Blinding Eye Disease', Science Daily, adapted from a news release issued by University Of Utah Health Sciences Center, 25 November 2004.