A Research Study of the Genetic Causes of Visual Impairment

Authors: William Daugherty, Superintendent Texas School for the Blind and Visually Impaired

Keywords: TSBVI, visually impaired, genetic eye disorders

The Texas School for the Blind and Visually Impaired (TSBVI) is collaborating with two researchers at the Baylor College of Medicine who are studying the genetic basis for certain types of visual impairment. Ophthalmologist Dr. Richard Lewis and Richard Gibbs, Ph.D. of the BCM Human Genome Sequencing Center will begin their two year study with students enrolled at TSBVI. All students and their parents volunteering to participate in the program will provide blood samples for later analysis at the Baylor Genome Sequencing Center.

Among the types of visual impairment conditions the researchers are particularly interested in are nystagmus, retinal agenesis, aniridia, microphthalmia, anophthalmia, coloboma, rod-cone dystrophy, CVI, Leber Congenital Amaurosis, optic nerve atrophy, optic nerve hypoplasia, retinoblastoma, retinitis pigmentosa, retinoschisis, septo-optic dysplasia, retinopathy of prematurity and sclerocornea. The researchers will not be looking at visual impairments caused by trauma or other environmental factors.

The researchers state that their long term goals are to “confirm a genetic diagnosis in visually impaired individuals with a single gene diagnosis, to identify the causal gene in disorders that seem to be one disease but have several potentially causative genes with the same outcome, to discover new genes for disorders that have several known causes but for which not all of the genes are yet identified, to discover causative genes for genetic conditions that have no known gene, and to understand the gene-gene interactions where two or more genes may modify or enhance the disorder.”

Much of the work on this project will be in the 2016-17 school year among students enrolled full time at TSBVI, but we also anticipate that students in short term and summer programs will have an opportunity to participate. If we decide to open up the study to students and families across Texas, we’ll post that prominently on the TSBVI website www.tsbvi.edu . Anyone wanting to discuss the project or express an interest in participating is welcome to contact me.