Clinical and Molecular Analysis of Genetic Eye Disorders

Active Clinical Trials // Feb 14 2017

sponsored by Privately Funded Source

Principal Investigator: Terri Young

Coordinator: Nickie Stangel

The purpose of this study is to identify the gene or genes responsible for developmental causes of blindness in the world. By identifying a gene and that gene’s role in this process, new methods of treatment directed at the specific etiology of this disease will become possible.

Specific Aims

Aim 1

Screen for mutations in genes known to cause hereditary ophthalmologic disorders to test for novel gene mutations, and to make genotype/ phenotype correlations. Examples would be primary congenital glaucoma, congenital cataracts, corneal dystrophies, heritable, eyelid configuration anomalies, retinal dystrophies, etc.

Aim 2

Perform gene discovery protocols for those subject cohorts where genes have not been previously identified. This will take the form of candidate gene screening with or without previous mapping studies, dependent on the size and number of patient and family datasets for that particular phenotype. With the development of deep-sequencing technologies, especially with familial participants who may or may not be affected, new gene discoveries have been possible without previous linkage or homozygosity analyses.

Inclusion Criteria

  1. Patients of any age (including minors of any age) who have an ophthalmic disorder that could have a genetic component.
  2. Family members (including minors) of a patient who has an ophthalmic disorder that could have a genetic component.

Exclusion Criteria

  1. Vulnerable populations other than minors (e.g., prisoners, individuals lacking consent capacity)
  2. For the probands only – known genetic mutation supporting the clinically diagnosed eye condition


Please contact the study coordinator with questions: Nickie Stangel, (608) 263-8783