| Summary: | Aniridia is a rare genetic panocular (whole eye) disorder which, for the majority of cases, is caused by mutations or chromosomal rearrangements involving paired box gene 6 (PAX6). Peters’ anomaly (PA), also a genetic eye disorder, has also been found to be associated with mutations in PAX6, and also in FOXC1, PITX2, and CYP1B1. However, in approximately 20% of patients who have aniridia and 75% of patients with PA, no mutation has been found in PAX6, or other genes involved these eye disorders, and for these patients, their genetic mutation is unknown. This precludes these patients from genetic testing and thus, from gaining the benefits from genetic counseling and early medical interventions. My hypothesis was that patients who have aniridia, Peters’ anomaly or related eye disorders, for which genetic cause is unknown, have mutations in NR2E1. The purpose of this thesis was to study patients with aniridia, Peters’ anomaly, and related eye disorders in order to identify mutations in a novel candidate gene, NR2E1. Here, the first germline amino acid change was identified in the NR2E1 gene in a patient with Peters’ anomaly and his mother, and not found in 392 control subjects. The identification of an amino acid variant in NR2E1 is significant as it supports the hypothesis that NR2E1 is a regulator of eye development in humans and has implications for the gene in the development of eye disorders. If future analysis leads to the identification of NR2E1 mutations in additional patients, it will allow patients with eye disorders of otherwise unknown genetic etiology to receive the benefits of modern genetic medicine and genetic counseling. This future work endeavors to provide the scientific and medical community with a greater depth of knowledge of the role of NR2E1 in genetic eye disorders.
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