About our work

The Human Visual Function Core within the Ophthalmic Genetics and Visual Function Branch provides expertise and technical support in electrophysiology and psychophysics to the ophthalmology clinical program at the NEI.  The Section is also extensively involved in the development and design of functional outcome measures for clinical trials involving retinal disease. 

Our recent research includes the launch of a natural history of Stargardt like macular dystrophy 3 caused by mutations in ELOVL4.  A further research interest includes the study of mobility using a virtual reality system in patients advanced retinal disease. 

Human Visual Function Core key staff

Key staff table
Name Title Email Phone
Marisa Boyle Research Associate marisa.coene@nih.gov
Brett Jeffrey, Ph.D. Head jeffreybg@mail.nih.gov 301-402-2391
Maximilian Pfau, Ph.D. Research Fellow maximilian.pfau@nih.gov

Human Visual Function Core alumni

Name Title Time Period
Donnell Knighten Student IRTA -
Alisa Thavikulwat Medical Research Scholars Program Student -
Mailika Nimmagadda Summer Student -
Aarti Hinduja Summer Student -
Herman Siebel Visiting Student -
Alexis O'keiffe Summer Student -
Michelle Chen Summer Student -
Durin Uddin Medical Research Scholars Program Student -
Oliver Flynn, Ph.D. Postdoctoral Fellow -

News from this lab

Photos of study participant with pale hair, left, and darker hair, right.

Nitisinone Increases Melanin in People With Albinism

February 20, 2019

A small pilot clinical study at the National Eye Institute (NEI) suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B (OCA-1B), a rare genetic disease that causes pale skin and hair and poor vi
Last updated: December 9, 2020