Research with Results

Over the past two decades, we have funded groundbreaking research around the world. Research remains the surest route to a cure for hereditary vision disorders. 

currently funded research

Sonia Guha, Ph.D.

Sonia Guha, Ph.D.

Searching For Clues to Why Retinal Nerves Take a Wrong Turn

Sonia Guha, Ph.D., Stein Eye Institute, University of California at Los Angeles

• Dr. Guha’s research on how the gene for ocular albinism type 1 (OA1) works, and how its mutation affects the functioning of the retina, could lead to a new therapeutic approach for ocular albinism in humans.

• Individuals with OA1 display a number of abnormalities in the eye, including the misrouting of the optic nerve fibers that extend to the brain. When the fibers coming from each eye cross incorrectly or not at all to the opposite side of the brain, vision is negatively impacted. Dr. Guha is examing the development of the retina during early embryonic stages to determine precisely what type of malfunction leads to this misrouting.

Alejandra Young, Ph.D.

Alejandra Young, Ph.D.

It’s All in the Gene Delivery

Alejandra Young, Ph.D., Stein Eye Istitute, University of California at Los Angeles

• Gene therapies are an exciting new method for the prevention and treatment of blindness caused by a variety of ophthalmic disorders. For gene therapies to work, scientists must find proper methods for transferring normal, functioning genes into the cells containing the incorrect genetic material. Recent approaches, like using viruses, are often inefficient and appear to have limited therapeutic benefit. Dr. Young is researching the use of microvesicles (MVs) released by stem cells as an alternative delivery vehicle for gene transfer. MVs can transfer their genetic contents to other cells in a different manner than viruses and with potentially less drawbacks.

• Dr. Young is using MVs to repair the retinal defects of mice that are missing the OA1 gene. If successful, her next step would be to try to repair human cells missing the OA1 gene.

Carol Mason, Ph.D.

Carol Mason, Ph.D.

Suzanne Roffler-Tarlov, Ph.D.

Suzanne Roffler-Tarlov, Ph.D.

Do L-Dopa Levels Impact Albinism?

Carol Mason, Ph.D., College of Physicians and Surgeons, Columbia University, New York City

In collaboration with Suzanne Roffler-Tarlov, Ph.D., Tufts University School of Medicine, Boston

• L-Dopa, a chemical normally produced in the body, plays an important role in many functions, including melanin development. Scientists have shown that L-Dopa levels are critical to the synthesis of the normally pigmented retina. Albino mice have little to no levels of L-Dopa during the early developmental stages of the retina.

• Drs. Mason and Roffler-Tarlov are examining whether giving pregnant albino mice water enhanced with L-Dopa improves the retinal development in their fetuses. This is a critical step in determining whether or not L-Dopa can treat vision disorders in people with albinism.

M. Vittoria Schiaffino, MD, Ph.D.

M. Vittoria Schiaffino, MD, Ph.D.

Following the Path of a Malfunctioning Gene

M. Vittoria Schiaffino, MD, PhD., San Raffaele Scientific Institute, Milan, Italy

• Dr. Schiaffino’s research on the changes taking place at the cellular and molecular level that ultimately cause ocular albinism type 1 (OA1) could lead to targeted drug treatments.

• Affected individuals carry mutations of the OA1 gene. This means they also lack the OA1 protein, which is a G protein-coupled receptor that, when functioning normally, regulates cellular functions necessary for vision. Since many drugs currently on the market (including anti-histamines) target the same type of receptors, this research raises the possibility that treatments similar to already available therapies may be useful in treating albinism.



GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

Lipid transfer and metabolism across the endolysosomal-mitochondrial boundary


Mitochondria and Melanosomes Establish Physical Contacts Modulated by Mfn2 and involved in Organelle Biogenesis

also referenced here - Organelle Interactions: Melanosomes and Mitochondria Get Cozy


A Constitutively Active Gαi3 Protein Corrects the Abnormal Retinal Pigment Epithelium Phenotype of Oa1 -/- mice

L-Dopa and the Albino Riddle: Content of L-Dopa in the Developing Retina of Pigmented and Albino Mice


Specific Interaction of the Gαi3 with the Oa1 G-Protein Coupled Receptor Controls the Size and Density of Melanosomes in Retinal Pigment Epithelium

Visual Acuity Development of Children with Infantile Nystagmus Syndrome


Signaling Pathways in Melanosome Biogenesis and Pathology


Transfer of MicroRNAs by Embryonic Stem Cell Microvesicles


The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells

Involvement of OA1, an Intracellular GPCR, and Gαi3, its Binding Protein, in Melanosomal Biogenesis and Optic Pathway Formation

Retinal Function in X-Linked Ocular Albinism (OA1)


An Unconventional Dileucine and a Novel Cytosolic Motif are required for the Lysosomal/Melanosomal Targeting of OA1

The Melanosomal/Lysosomal Protein OA1 has Properties of a G Protein-Coupled Receptor


The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis


X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats


The Ocular Albinism Type 1 Gene Product is a membrane Glycoprotein Localized to Melanosomes