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MERTK

Disease Category: autosomal recessive

Patient Population: 

Active Clinical Trials: 

Treatment Options: 

Strategies to Preserve Eye Health: 

Institution(s) Supporting Research: â€‹

A FACE OF RP

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BRIEF DESCRIPTION

MERTK retinitis pigmentosa is caused by mutations in the MERTK gene. A mutation in the MERTK gene reduces the ability of retinal pigment epithelial (RPE) cells to remove shed photoreceptor outer segments. This leads to a buildup of debris that separates the photoreceptors from the RPE cells, causing them to degenerate. RP is a hereditary retinal dystrophy that causes progressive vision loss. Symptoms of MERTK retinitis pigmentosa include difficulty seeing in the dark, progressive loss of peripheral vision, progressive loss of central vision, reduced vision, constricted visual fields, and early macular atrophy.

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​The RPE cells play a critical role in photoreceptor homeostasis. When the RPE cells are dysfunctional, the photoreceptors degenerate and die, leading to vision loss. 


Treatments for this gene mutation are under investigation. See below articles.

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This is for informational purposes only. For medical advice or diagnosis, consult a professional

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