Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex.
OBJECTIVE
The purpose of this study was to identify the functional and structural characteristics in three female obligate carriers of X-linked retinitis pigmentosa from the same family by using spectral domain optical coherence tomography, fundus autofluorescence, and microperimetry.


METHODS
Three female obligate carriers with a tapetal-like reflex, 21, 49, and 57 years of age, from a single family of X-linked retinitis pigmentosa that was seen in the ophthalmology department at the University of Illinois at Chicago, were enrolled in the study. All carriers underwent a complete ophthalmic examination. Spectral domain optical coherence tomography measurements, a macular microperimetry examination, and fundus autofluorescence testing were performed.


RESULTS
The spectral domain optical coherence tomography examination in all three carriers showed a normal retinal microstructure and thickness. Microperimeter testing showed subnormal retinal sensitivity in the areas of the tapetal-like reflex. Fundus autofluorescence examination showed the presence of speckled areas of enhanced autofluorescence.


CONCLUSIONS
Our study demonstrates that the carriers of X-linked retinitis pigmentosa with a tapetal-like reflex can show an enhanced reflectance on infrared images, abnormal autofluorescence properties, elevated retinal thresholds, and a normal retinal morphology within the posterior pole on spectral domain optical coherence tomography testing.
Genead
Mohamed A
MA
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA.
Fishman
Gerald A
GA
Lindeman
Martin
M
D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000503:physiopathology*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D012018:Reflex / Q000502:physiology*; D012160:Retina / Q000503:physiopathology*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000503:physiopathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult