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Multimodal Imaging Of Photoreceptor Structure In Choroideremia, Lynn W. Sun, Ryan D. Johnson, Vesper Williams, Phyllis Summerfelt, Alfredo Dubra, David V. Weinberg, Kimberly E. Stepien, Gerald A. Fishman, Joseph Carroll
Multimodal Imaging Of Photoreceptor Structure In Choroideremia, Lynn W. Sun, Ryan D. Johnson, Vesper Williams, Phyllis Summerfelt, Alfredo Dubra, David V. Weinberg, Kimberly E. Stepien, Gerald A. Fishman, Joseph Carroll
Biomedical Engineering Faculty Research and Publications
Purpose
Choroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris, and photoreceptors. We examined photoreceptor structure in a series of subjects with choroideremia with particular attention to areas bordering atrophic lesions.
Methods
Twelve males with clinically-diagnosed choroideremia and confirmed hemizygous mutations in the CHM gene were examined. High-resolution images of the retina were obtained using spectral domain optical coherence tomography (SD-OCT) and both confocal and non-confocal split-detector adaptive optics scanning light ophthalmoscope (AOSLO) techniques.
Results
Eleven CHM gene mutations (3 novel) were identified; three subjects had the same mutation and one …