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September 2018

Choroideremia in a Woman With Turner Syndrome

Author Affiliations
  • 1Carver College of Medicine, University of Iowa, Iowa City
  • 2Moran Eye Center, University of Utah, Salt Lake City
JAMA Ophthalmol. 2018;136(9):1076-1078. doi:10.1001/jamaophthalmol.2018.2630

A 67-year-old woman with a previous clinical diagnosis of retinal degeneration and a family history of choroideremia (CHM) (Figure 1) was referred to the Moran Eye Center for further evaluation. The patient reported experiencing gradual peripheral vision loss and nyctalopia over many years and was recently declared legally blind.

Her best-corrected visual acuity was counting fingers OD and 20/60 OS. The intraocular pressures and extraocular movements were within normal limits. Goldmann perimetry confirmed a small remaining central island of vision in both eyes, with less than 10° remaining for all stimuli. Slitlamp examination results were unremarkable. A dilated fundus examination showed bilateral disc pallor, diffuse peripheral atrophy, a relatively preserved macular choroidal/retinal pigment epithelium pigmentation, and scattered hyperpigmented clumps located both centrally and peripherally (Figure 2). Fundus autofluorescence results detected hypoautofluorescence peripherally with patches of relative hyperautofluorescence in the parafoveal region. Optical coherence tomography of the macula disclosed severe macular and foveal outer retinal, retinal pigment epithelium, and choroidal thinning with a complete loss of the ellipsoid zone throughout the entire macula. Electroretinography scans were unrecordable. Physical examination results were significant only for short stature (a height of 138.5 cm) and obesity (a body mass index [calculated as weight in kilograms divided by height in meters squared] of 32.05).