Structural and Functional Characteristics in Carriers of X-Linked Retinitis Pigmentosa with a Tapetal-Like Reflex
journal contributionposted on 20.08.2012 by Mohamed A. Genead, Gerald A. Fishman, Martin Lindeman
Any type of content formally published in an academic journal, usually following a peer-review process.
Purpose: to identify the functional and structural characteristics in three female obligate carriers of X-linked retinitis pigmentosa (XLRP) from the same family by using spectraldomain OCT (SD-OCT), fundus autofluorescence (FAF), and microperimetry (MP). Methods: Three female obligate carriers with a tapetal-like reflex (TLR), 21, 49, and 57 years of age, from a single family of XLRP 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. SD-OCT measurements, a macular MP exam, and FAF testing were performed. Results: The SD-OCT exam in all three carriers showed a normal retinal micro-structure and thickness. Microperimeter testing showed subnormal retinal sensitivity in the areas of the TLR. FAF exam showed the presence of speckled areas of enhanced AF. Conclusions: Our study demonstrates that the carriers of XLRP with a TLR can show an enhanced reflectance on infrared images, abnormal autofluorescence properties, elevated retinal thresholds, and a normal retinal morphology within the posterior pole on SD-OCT testing