A detailed <i>in vivo</i> analysis of the retinal nerve fibre layer in choroideremia

Fu, Dun Jack; Jolly, Jasleen K; MacLaren, Robert E.

doi:10.1111/aos.13973

Cited by 5 publications

(5 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Axonal compression can also be the underlying cause of electrophysiological dysfunction [33] and histologic evidence of ganglion cell death [34,35] in retinitis pigmentosa with CME. Initial thickening and subsequent thinning of the RFNL with the progression of outer retinal degeneration was reported earlier [29,36,37]. The preferential nature of this change in the RNFL temporal to the disc [37,38] supports our view about the potential impact of CME on RNFL thickness.…”

Section: Plos Onesupporting

confidence: 80%

Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa

Ruff

Tezel²,

Tezel³

2022

PLoS ONE

View full text Add to dashboard Cite

Cystoid macular edema (CME) is a major cause of central visual deterioration in retinitis pigmentosa. The exact reason for CME and its prognostic significance in this patient population is unknown. We seek to find clues to answer these questions by examining the anatomical correlations between retinal cysts and retinal morphometric parameters in a cohort of patients with retinitis pigmentosa and CME. For this reason, 103 patients (196 eyes) with untreated cystoid macular edema (CME) were identified from a pool of 578 genotyped patients with retinitis pigmentosa. Image analyses were conducted using three central horizontal OCT scans of these patients to calculate cross-sectional areas of the retinal nerve fiber layer, outer retinal, inner retinal, cysts, and total retinal areas. Lengths of the ellipsoid zone and outer limiting membrane were also measured. Best-fit curves were derived for analyzing the factors playing a role in the size of the retinal cysts and the patients’ visual acuity. Generalized Estimating Equation and multivariate linear regression analyses were conducted to determine the correlations between visual acuity, morphometric and clinical data, and the significant cyst size and visual acuity determinants. Twenty-five percent of the screened patients (103/578) had CME. Patients with autosomal dominant retinitis pigmentosa had the highest incidence of CME (43.6%, p<0.001) but also had the best visual acuity (20/34±20/30, p = 0.02). The total cyst area was 0.14±0.18 mm2. Outer retinal area (B = 0.214; p = 0.008), age (B = -0.003; p<0.001) and retinal nerve fiber area (B = 0.411; p = 0.005) were main determinants of the (r = 0.44; p<0.001) cyst size. Cysts resolved with progressing retinal degeneration. Length of the intact ellipsoid zone (B = -5.16E-5; p<0.001), the inheritance pattern (B = 0.04; p = 0.028) and retinal nerve fiber area (B = 0.751; p<0.001) were the main determinants of visual acuity. In patients with retinitis pigmentosa and cystoid macular edema, retinal nerve fiber layer thickness is associated with decreasing visual acuity and cyst size. This finding suggests that intraretinal cysts may compress retinal axons and cause subsequent visual loss in retinitis pigmentosa.

show abstract

Section: Plos Onesupporting

confidence: 80%

Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa

Ruff

Tezel²,

Tezel³

2022

PLoS ONE

View full text Add to dashboard Cite

show abstract

“…Causes for RNFL thickening in RP but also in patients with other inherited retinal diseases such as choroideremia are currently not well understood and various potential explanations have been considered [32,41]. These include microglial remodeling secondary to outer retinal atrophy or altered metabolic signaling, blood vessel architecture of the inner retina, or yet unknown factors [41][42][43][44][45]. However, with a lack of histological data, explanations of RNFL thickening remain, to some degree, speculative at present [41].…”

Section: Discussionmentioning

confidence: 99%

“…These include microglial remodeling secondary to outer retinal atrophy or altered metabolic signaling, blood vessel architecture of the inner retina, or yet unknown factors [41][42][43][44][45]. However, with a lack of histological data, explanations of RNFL thickening remain, to some degree, speculative at present [41].…”

Section: Discussionmentioning

confidence: 99%

Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa

Birtel

Hess

et al. 2021

Graefes Arch Clin Exp Ophthalmol

View full text Add to dashboard Cite

Purpose To investigate multimodal retinal imaging characteristics including the retinal nerve fiber layer (RNFL) thickness in patients with RPGR-associated retinitis pigmentosa (RP). Methods This cross-sectional case–control study included 17 consecutive patients (median age, 21 years) with RPGR-associated RP who underwent retinal imaging including optical coherence tomography (OCT), short-wavelength fundus autofluorescence (AF) imaging, and RNFL scans centered on the optic disc. RNFL thickness was manually segmented and compared to clinical and imaging parameters including the transfoveal ellipsoid zone (EZ) width, the horizontal diameter of the macular hyperautofluorescent ring. RNFL thickness was compared to 17 age- and sex-matched controls. Results In patients with RPGR-associated RP, the EZ width (R2 = 0.65), the central hyperautofluorescent ring on AF images (R2 = 0.72), and visual acuity (R2 = 0.68) were negatively correlated with age. In comparison to controls, a significantly (p < 0.0001) increased global RNFL thickness was identified in RPGR-associated RP, which was, however, less pronounced in progressed disease as indicated by the EZ width or the diameter of the central hyperautofluorescent ring. Conclusions This study describes retinal characteristics in patients with RPGR-associated RP including a pronounced peripapillary RNFL thickness compared to healthy controls. These results contribute to the knowledge about imaging biomarkers in RP, which might be of interest for therapeutic approaches such as gene replacement therapies.

show abstract

“…The RPE has an important role in ganglion cell neurogenesis [ 31 ]. Therefore, one besides many [ 32 ] possible explanations for increased RNFL thickness in the nasal sectors is that impaired signalling early in development due to impaired RPE function could result in a more prolonged period of ganglion cell neurogenesis [ 32 ]. The highly significant thinner RNFL we detected in the temporal area might be indicative of anterograde transneuronal degeneration due to STGD stage–dependent complete atrophy of macular RPE cells and consecutive degeneration of photoreceptor cells [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography

Reich

Lübke

Joachimsen

et al. 2020

Graefes Arch Clin Exp Ophthalmol

View full text Add to dashboard Cite

Purpose To evaluate peripapillary retinal nerve fibre layer (RNFL) thickness measured by spectral domain optical coherence tomography (OCT) in patients with Stargardt disease (STGD). Methods A cross-sectional, monocentric, observational case-control study. Twenty patients (39 eyes) with ABCA4 mutations graded according to the Fishman STGD classification were included. RNFL measurement was performed using Heidelberg Spectralis SD-OCT. RNFL thickness in STGD patients was compared to age-matched data of healthy individuals provided by the device’s manufacturer. A manual readjustment of the optic disc-fovea angle was performed when needed. Results The mean age at first diagnosis of STGD was 22.9 years (range 9 to 50) and 39.1 years (range 18 to 74) at the time of examination. Thirty-nine percent of eyes (15 eyes) needed manual adjustment of the optic disc-fovea angle due to malfixation of the patients during OCT. The temporal quadrant corresponding to the macula showed a RNFL 16% thinner than controls (mean − 12 μm, 95%CI − 9 to −15 μm). However, global RNFL thickness did not differ from controls due to increased RNFL thickness of 12% in the nasal sectors. Duration and stage of STGD were not correlated to thinner RNFL. Conclusion STGD seems to be associated with thinner peripapillary RNFL in the sector of axons projecting to the degenerated macular area. It is yet unclear as to whether this results from anterograde transneuronal degeneration of direct injury to retinal ganglion cells.

show abstract

A detailed in vivo analysis of the retinal nerve fibre layer in choroideremia

Cited by 5 publications

References 33 publications

Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa

Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa

Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa

Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography

Contact Info

Product

Resources

About