Optical coherence tomography and electro-oculogram abnormalities in X-linked retinitis pigmentosa

Abstract

The OCT and EOG were demonstrated to be useful methods to identify the minimal alterations in carriers of X-linked retinitis pigmentosa.

Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa

“…Previous qualitative OCT assessments have reported retinal layer thinning in studies consisting of 2 carriers (Jacobson et al, 1997) and 5 carriers (Vingolo et al, 2006), in agreement with our findings, however in another study of 3 carriers, retinal thickness was observed to be normal (Genead et al, 2010). The finding of thinning of the outer retinal layers in XLRP carriers is consistent with reports of retinal thinning in RP (Hood et al, 2009), as well as thinning of the outer nuclear layer found in a canine model of XLRP carriers (Beltran et al, 2009).…”

“…An abnormal radial pattern on fundus autofluorescence imaging was found in some subjects, which had some correspondence with areas of visual field loss (Wegscheider et al, 2004). Evidence of reduced thickness of the neurosensory retina and increased outer layer reflectivity has been noted from OCT imaging (Jacobson et al, 1997; Vingolo et al, 2006). …”

“…The following have been reported: normal and constricted visual fields using Goldmann kinetic perimetry (Alexander et al, 2003; Andreasson et al, 2003; Banin et al, 2007; Bird, 1975; Fishman et al, 1998; Grover et al, 2000; Jacobson et al, 1997; Wegscheider et al, 2004); patchy rod and cone system sensitivity loss using two-color threshold perimetry (Gieser et al, 1998; Jacobson et al, 1997; Jacobson et al, 1992; Wegscheider et al, 2004), in which rod and cone sensitivity losses were equal (Fishman et al, 1998; Peachey et al, 1988), or rod loss was greater than cone system loss (Jacobson et al, 1997; Wegscheider et al, 2004) abnormal rod and cone responses on full field electroretinography (ERG)(Banin et al, 2007; Fishman et al, 1998; Gieser et al, 1998; Grover et al, 2000; Jacobson et al, 1997; Peachey et al, 1988; Vingolo et al, 2006) and patchy areas of decreased cone response amplitude and/or increased implicit time using the multifocal ERG technique (Vajaranant et al, 2002). Combined spectral domain optical coherence tomography (SD-OCT) and microperimetry, using the OPKO OCT/scanning laser ophthalmoscope (SLO), found normal retinal structure in 3 XLRP carriers and showed abnormal retinal sensitivity associated with tapetal fundus changes (Genead et al, 2010).…”

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene

“…Many previous studies have detailed the prevalence of abnormal fundus photography, 1,2 vitreous fluorophotometry, 3 infrared (IR) reflectance images, 1,2 electroretinographic (ERG), 4,5 psychophysical 6 and flicker-fusion 7 findings in such carriers. More recently, several studies have investigated XLRP carriers with advanced devices, including FAF, 8 multifocal ERG 9 and OCT 10,11 to reveal clinical phenotypes of XLRP. Most XLRP carriers can be identified on the basis of fundus findings and ERG changes; however, 10-30% of carriers show no abnormal ERG or fundus finding.…”

Macular Thickness and Aging in Retinitis Pigmentosa

“…In evaluating the correlation between the macular thickness and EOG, Vingolo et al 31 evaluated the correlations between OCT and EOG alterations in patients with X-linked RP. They found that the OCT morphology was abnormal in carriers and affected males but not in unaffected females.…”