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MAK

Disease Category: autosomal recessive

Patient Population: 

Active Clinical Trials: 

Treatment Options: 

Strategies to Preserve Eye Health: 

Institution(s) Supporting Research: 

A FACE OF RP

Image by Soroush Karimi

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BRIEF DESCRIPTION

The male germ cell-associated kinase (MAK) gene is responsible for about one third of cases of autosomal recessive retinitis pigmentosa (RP) in people of Jewish ancestry. MAK is a protein that regulates the length of primary cilia in many cell types. Mutations in the MAK gene cause a relatively mild form of RP that primarily affects the light-sensing cells in the retina.

 

Although there is no current cure for RP, medications may help treat complications. Gene therapy approaches may also be able to slow or prevent vision loss. For example, researchers at the University of Iowa Institute for Vision Research (IVR) have developed viral vectors that can deliver the MAK gene to photoreceptor cells. 


RP symptoms include loss of side vision (tunnel vision) and decreased vision in low light or at night. The severity of RP can vary considerably, even among family members. Some people with RP may go blind by age 30, while others may retain useful vision into their 80s or later. 

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