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Retinal Diseases

Major retinal disorders come in three flavors: inherited, risk-associated and acquired.

Inherited diseases develop and progress according to some specific gene defect. Retinitis pigmentosa (RP) and related disorders are of this type. There are over 100 known genes that cause RP-like degenerations RPB NEI. The defective genes operate in various ways, but in general cause retinal photoreceptor cells to die, which leaves a blind retina behind. Such diseases are relatively rare, though 100s of thousands suffer from them.

Risk-associated diseases are far more common and include macular degeneration, glaucoma and diabetes NEI. Such diseases have strong genetic components where gene variations (not defective genes) interact with environmental risks (smoking, obesity) to cause damage to the retina indirectly, likely by immune-system attack on critical supporting cells of the eye. Millions suffer from these diseases.

Acquired diseases include trauma, infections and environmental poisons. These all damage the retina in various ways, but are usually irreversible.

That isn't the end of the story. We hope to use genetic, molecular, cellular or even bionic tools to restore vision, but only very rare, specialized cases can be treated this way. However, a new challenge has emerged: retinal remodeling. Just as the brain pathologically "rewires" in neurologic disease, the retina "rewires" in retinal degenerations. Some remodeling events begin as soon as photoreceptor stress is initiated, while others are manifest only upon complete local photoreceptor loss. Remodeling negatively impacts all proposed treatments and in the Marc laboratory we focus on understanding and controlling retinal remodeling.



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