STRUCTURAL AND FUNCTIONAL CHARACTERISTICS IN CARRIERS OF X-LINKED RETINITIS PIGMENTOSA WITH A TAPETAL-LIKE REFLEX

Mohamed A Genead,Martin Lindeman,Gerald A Fishman

doi:10.1097/iae.0b013e3181dde629

Abstract

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. 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. 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. 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.

Highlights

Retinitis pigmentosa (RP) is the term applied to a clinically and genetically heterogeneous group of progressive retinal dystrophies
The aim of the current study was to identify the functional and structural characteristics associated with a tapetal-like reflex (TLR) in three female obligate carriers of X-linked RP (XLRP) from the same family by using spectral-domain OCT, fundus autofluorescence, and macular microperimetry
The TLR is one of the two fundoscopically detectable abnormalities seen in carriers of XLRP, the other being peripheral pigmentary degenerative changes.[7]

Summary

Introduction

Retinitis pigmentosa (RP) is the term applied to a clinically and genetically heterogeneous group of progressive retinal dystrophies. 1 X-linked RP (XLRP), presents with the early onset of clinically significant visual symptoms It is the most severe genetic subtype of RP,[2,3] and accounts for 6-17% of familial RP cases.[3] While this genetic subtype produces a severe retinal degeneration in affected males, it shows an overall milder disease expression in female carriers.[4,5] Women who are carriers (heterozygotes) of XLRP usually have normal or close to normal visual acuity but often show some degree of fundus changes. These include a golden metallic-luster appearance within the perimacular area, referred to as a tapetal-like reflex (TLR), and local areas of peripheral pigmentary changes.[4,6] A previous report by Grover et al.,[7] demonstrated that the degree of fundus change in carriers is important for their visual prognosis because carriers with only a tapetal-like reflex had a better prognosis for retinal visual function than those with peripheral pigmentation

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