Ocular Genetics

Dr. Musarella is an internationally recognized and extensively published expert in ocular genetics, retinitis pigmentosa and pediatric ophthalmology. She has been a leader in the development of multidisciplinary management strategies in the field of ocular genetics and has received numerous grants. Currently, she is investigating optic disc morphology in children with cerebral palsy.

At the present time, Dr. Musarella is collaborating in several projects with researchers at the University of Michigan Departments of Ophthalmology and Genetics. With Dr. Aharid Swaroop, she is looking at isolating a gene at Xp21.3, which Dr. Musarella localized in 1988. She also assigned the gene for complete X-linked incomplete congenital stationary night blindness to Xp11.3 in 1998. The gene for the incomplete form of X-linked congenital night blindness was isolated and reported in the prestigious journal Nature Genetics, in collaboration with a group at the University of Calgary.

Dr. Musarella has been extensively studying Lebers Congenital Amaurosis, a disease that causes congenital blindness in young children. At present, she has over 50 families participating in the study and is doing a genome search in collaboration with Dr. Swaroop and Dr. Debra Thompson of the University of Michigan to find additional genes that may contribute to this disease. She also has published numerous articles on albinism, oculocutaneous albinism and X-linked albinism.