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Katy Downs, MS; David N. Zacks, MD, PhD; Rafael Caruso, MD; Athanasios J. Karoukis, BS; Kari Branham, MS; Beverly M. Yashar, MS, PhD; Mark H. Haimann, MD; Karmen Trzupek, MS; Meira Meltzer, MA, MS; Delphine Blain, ScM, MBA; Julia E. Richards, PhD; Richard G. Weleber, MD; John R. Heckenlively, MD; Paul A. Sieving, MD, PhD; Radha Ayyagari, PhD

Arch Ophthalmol. 2007;125(2):252-258.

Objective  To describe clinical molecular testing for hereditary retinal degenerations, highlighting results, interpretation, and patient education.

Methods  Mutation analysis of 8 retinal genes was performed by dideoxy sequencing. Pretest and posttest genetic counseling was offered to patients. The laboratory report listed results and provided individualized interpretation.

Results  A total of 350 tests were performed. The molecular basis of disease was determined in 133 of 266 diagnostic tests; the disease-causing mutations were not identified in the remaining 133 diagnostic tests. Predictive and carrier tests were requested for 9 and 75 nonsymptomatic patients with known familial mutations, respectively.

Conclusions  Molecular testing can confirm a clinical diagnosis, identify carrier status, and confirm or rule out the presence of a familial mutation in nonsymptomatic at-risk relatives. Because causative mutations cannot be identified in all patients with retinal diseases, it is essential that patients are counseled before testing regarding the benefits and limitations of this emerging diagnostic tool.

Clinical Relevance  The molecular definition of the genetic basis of disease provides a unique adjunct to the clinical care of patients with hereditary retinal degenerations.

Author Affiliations: Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor (Mss Downs and Branham, Drs Zacks, Yashar, Richards, Heckenlively, Sieving, and Ayyagari, and Mr Karoukis); Departments of Otolaryngology–Head and Neck Surgery (Ms Downs) and Epidemiology (Dr Richards), University of Michigan; National Eye Institute, National Institutes of Health, Bethesda, Md (Drs Caruso and Sieving and Mss Meltzer and Blain); Retina Consults of Michigan, Southfield (Dr Haimann); Casey Eye Institute, Oregon Health & Science University, Portland (Ms Trzupek and Dr Weleber); and MedStar Research Institute, Hyattsville, Md (Ms Blain).

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