TY - JOUR
T1 - Phenotyping choroideremia and its carrier state with multimodal imaging techniques
AU - Ma, Kevin K.
AU - Lin, James
AU - Boudreault, Katherine
AU - Chen, Royce W.S.
AU - Tsang, Stephen H.
N1 - Funding Information:
shaped region of preservation in the macula (Figure 1, A and C). Additionally, white subretinal fibrosis was present centrally in the left eye (Figure 1B). Optical coherence tomography demonstrated diffuse RPE atrophy as well as loss of overlying photoreceptor and outer nuclear layer (Figure 2, A and B). Foveal thickening, outer retinal tubulations, and cystoid macular edema were present on the right (Figure 2A), whereas central subretinal fibrosis was present on the left (Figure 2B). En-face OCT angiography (Zeiss AngioPlex OCT Angiography; Dublin, CA) showed prominent choroidal vasculature secondary to the relative absence of choriocapillaris The Barbara & Donald Jonas Laboratory of Regenerative Medicine and Bernard & Shirlee Brown Glaucoma Laboratory are supported by the National Institutes of Health (5P30EY019007, R01EY018213, R01EY024698, R01EY026682, and R21AG050437); National Cancer Institute Core (5P30CA013696); the Research to Prevent Blindness (RPB) Physician-Scientist Award; unrestricted funds from RPB, New York, NY; Tistou & Charlotte Kerstan Foundation; Crowley Family Fund; the Schneeweiss Stem Cell Fund; New York State (C029572); the Foundation Fighting Blindness New York Regional Research Center Grant (C-NY05-0705-0312); and the Gebroe Family Foundation.
PY - 2017
Y1 - 2017
N2 - Purpose: To describe findings in a patient with choroideremia (CHM) and his mother, an obligate CHM carrier. Methods: Case report. Results: A 25-year-old man with nyctalopia and poor peripheral vision since childhood, as well as a family history consistent with an X-linked retinal disorder was diagnosed with CHM. His asymptomatic 50-year-old mother, an obligate carrier, was also examined. Fundus examination of the affected man showed significant atrophy of the choroid and retinal pigment epithelium, whereas the carrier woman showed patchy pigmentary mottling. Imaging of the affected man showed diffuse retinal pigment epithelium atrophy on optical coherence tomography and extensive areas of decreased choriocapillaris flow on optical coherence tomography angiography. By contrast, the carrier woman showed subtle retinal pigment epithelium changes on optical coherence tomography and mild flow alterations on optical coherence tomography angiography. Conclusion: This case demonstrates the findings seen in CHM, and while CHM carrier women are often asymptomatic, they may exhibit a mosaic pattern of pigmentary change on fundus examination. Optical coherence tomography angiography may show mild choroidal flow abnormalities. This finding serves to further characterize the extent of dysfunction in CHM and its carrier state.
AB - Purpose: To describe findings in a patient with choroideremia (CHM) and his mother, an obligate CHM carrier. Methods: Case report. Results: A 25-year-old man with nyctalopia and poor peripheral vision since childhood, as well as a family history consistent with an X-linked retinal disorder was diagnosed with CHM. His asymptomatic 50-year-old mother, an obligate carrier, was also examined. Fundus examination of the affected man showed significant atrophy of the choroid and retinal pigment epithelium, whereas the carrier woman showed patchy pigmentary mottling. Imaging of the affected man showed diffuse retinal pigment epithelium atrophy on optical coherence tomography and extensive areas of decreased choriocapillaris flow on optical coherence tomography angiography. By contrast, the carrier woman showed subtle retinal pigment epithelium changes on optical coherence tomography and mild flow alterations on optical coherence tomography angiography. Conclusion: This case demonstrates the findings seen in CHM, and while CHM carrier women are often asymptomatic, they may exhibit a mosaic pattern of pigmentary change on fundus examination. Optical coherence tomography angiography may show mild choroidal flow abnormalities. This finding serves to further characterize the extent of dysfunction in CHM and its carrier state.
KW - Choroideremia carrier
KW - OCT angiogra-phy
KW - Pigmentary retinopathy
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U2 - 10.1097/ICB.0000000000000419
DO - 10.1097/ICB.0000000000000419
M3 - Article
C2 - 27599108
AN - SCOPUS:85014592403
SN - 1935-1089
VL - 11
SP - S178-S181
JO - Retinal Cases and Brief Reports
JF - Retinal Cases and Brief Reports
ER -