Wednesday, September 2, 2026 | 11:00am to 12:00pm ET

Register to attend a free NIH webinar. Attendees will learn about a new gene therapy method for treating Oculocutaneous Albinism (OCA), a genetically heterogeneous disorder caused by a mutation in the Tyrosinase (TYR) gene, which is responsible for the production of melanin (brown-black) pigment in the hair, skin and eyes. This mutation causes a lack of melanin in eye tissues, such as the retinal pigment epithelium (RPE), resulting in abnormal eye development and impaired vision.

Drs. Brian P. Brooks and Aman George, of the National Eye Institute’s (NEI’s) Pediatric, Developmental & Genetic Ophthalmology Section, developed a novel gene therapy treatment for OCA that introduces a corrected copy of the human TYR gene to the eye’s RPE layer and induces melanin production, thereby reversing OCA’s effects on the eye. The NEI is looking for a licensee or co-development partner to commercially develop this technology for the OCA patient population.

Oculocutaneous albinism (OCA) is a rare, genetically heterogeneous disorder characterized by reduced or absent melanin (brown-black) pigment in the hair, skin and eyes. Lack of melanin eye tissues, such as the retinal pigment epithelium (RPE), results in abnormal eye development and impaired vision. The most common form of albinism in the US is OCA1, which is caused by mutations in the TYROSINASE (TYR) gene. Currently, there is no treatment for OCA.

The gene therapy method developed by Drs. Brooks and George introduces a corrected copy of the human TYR gene to the RPE layer via an adeno-associated viral (AAV) vector (AAV-TYR construct). Studies with OCA rat models and OCA1A patient derived RPE organoids show that the AAV-TYR construct increased melanin production, demonstrating the construct’s therapeutic potential to increase melanin production in vivo and in affected patient cells.

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