Cone dysfunctions in retinitis pigmentosa with retinal nerve fiber layer thickening

Sobacı, Güngör; Özge, Gökhan; Gündoğan, Fatih Ç.

doi:10.2147/opth.s28938

Cited by 10 publications

(10 citation statements)

References 12 publications

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“…It has been suggested that increased RNFL thickness may be associated with cone system abnormality [30,31]. Clinical findings in our patients support this observation.…”

Section: Discussionsupporting

confidence: 89%

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Severe retinal degeneration in females with c.2543del mutation in the RPGR gene

Kousal

Skalická

Valesova

et al. 2014

Acta Ophthalmologica

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PurposeTo describe the genotype-phenotype correlation and serial observations in a five-generation Czech family with X-linked retinitis pigmentosa (XLRP) associated with severe visual impairment in women.MethodsComprehensive ophthalmological examination including spectral domain optical coherence tomography (SD-OCT) was performed. Based on the pedigree structure and women being severely affected, autosomal dominant inheritance was suspected, and screening for known mutations by genotyping microarray was performed. Subsequently, direct sequencing of ORF15 RPGR was undertaken.ResultsEighteen family members (nine women and nine men) were examined. A pathogenic variant, c.2543del in ORF15 of RPGR, was found to segregate with disease. The oldest woman and her two sisters had no perception of light in their sixth decade. Four women and five men had signs and symptoms of typical XLRP, including moderate to high myopia. Three other women also had moderate to high myopia and myopic astigmatism but without the presence of bone spicule-like formation. Severe disruption of macular architecture on SD-OCT was equally common in both sexes. Only one 32-year-old female carrier had clinically normal findings. Subfoveal choroidal thickness was decreased in all affected men and in all female carriers, except the only carrier with a normal fundus examination.ConclusionsThe c.2543del mutation in ORF15 of RPGR is associated with a severe phenotype in the women in this family. The presence of a significant myopic refractive error, in the absence of male-to-male transmission, may be indicative of X-linked inheritance. Measurements of choroidal thickness may help in clinically identifying carrier status.

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“…It has been suggested that increased RNFL thickness may be associated with cone system abnormality [30,31]. Clinical findings in our patients support this observation.…”

Section: Discussionsupporting

confidence: 89%

“…Increased thickness, as well as decreased thickness of the RNFL in RP, has been reported previously [30-32], however, not in molecularly confirmed RP. It has been suggested that increased RNFL thickness may be associated with cone system abnormality [30,31].…”

Section: Discussionmentioning

confidence: 49%

Severe retinal degeneration in females with c.2543del mutation in the RPGR gene

Kousal

Skalická

Valesova

et al. 2014

Acta Ophthalmologica

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“…Bevacizumab was also found to induce photoreceptor damage, immune complex formation and thrombotic micorangiopathy (Julien et al, 2014). However, the few clinical studies that compared the influence of different anti‐VEGF medications on RGCL and RNFL had a relatively short follow‐up period and showed inconsistent results (Ahn et al, 2021; Kim et al, 2019; Lee, Sim, et al, 2020; Sobacı et al, 2013). Therefore, the focus of this study was to compare the impact of specific anti‐VEGF medications (ranibizumab, aflibercept and bevacizumab) on RGCL and RNFL during a 2‐year study period.…”

Section: Introductionmentioning

confidence: 99%

Impact of intravitreal ranibizumab, aflibercept and bevacizumab on retinal ganglion cell and nerve fibre layer thickness in Neovascular age‐related macular degeneration

Dail

Seitz

Sideroudi

et al. 2022

Acta Ophthalmologica

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To compare the effects of monotherapy with intravitreal ranibizumab, aflibercept and bevacizumab on retinal ganglion cell layer (RGCL) and retinal nerve fibre layer (RNFL) in patients with naïve neovascular age-related macular degeneration (nAMD).Methods: This is a retrospective cohort study with three-groups comparison. 83 patients and 97 eyes on continuous monotherapy with an intravitreal anti-vascular endothelial growth factor (anti-VEGF) were followed for 24 months and divided into three groups according to anti-VEGF (aflibercept: 25 eyes, ranibizumab: 34 eyes, bevacizumab: 38 eyes). Main outcome measures included: RGCL and RNFL thickness, best corrected visual acuity (BCVA), central macular thickness (CMT), macular volume (MV) and the presence of intraretinal fluids (IRF), subretinal fluids (SRF) and retinal pigment epithelial atrophy (RPE-atrophy). All outcome measures were recorded at the time of the first injection, 1 and 2 years after treatment and compared longitudinally and between groups. Results:The mean age was 79 ± 7 years. The RGCL thickness, MV, CMT and the presence of IRF and SRF decreased significantly within all three medication groups (p < 0.05 for all) with no significant difference between groups over the 2-year follow-up period (p > 0.10 for all). The decrease in RNFL thickness was not significant within or between the groups after a 2-year follow-up (p > 0.055 for all). RPE-atrophy increased significantly after 2 years in all three groups (p < 0.028 for all) with no significant difference between groups at all three time points (p > 0.307 for all). BCVA was comparable between the three groups over the 2-year follow-up period (p > 0.22 for all).Conclusions: Monotherapy with intravitreal aflibercept, bevacizumab and ranibizumab was associated with comparable significant decreases in RGCL thickness, CMT, MV, IRF and SRF in naïve nAMD patients during the first 2 years of treatment. Furthermore, no significant differences either in BCVA or RNFL thickness were observed between the three intravitreal anti-VEFGs during the first 2 years of treatment.

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“…Retinitis Pigmentosa (RP) is a leading cause of blindness resulting in incurable visual impairment [ 1 ]. It is a hereditary genetic disease causing bilateral retinal degeneration.…”

Section: Introductionmentioning

confidence: 99%

The cost-effectiveness of the Argus II retinal prosthesis in Retinitis Pigmentosa patients

Vaidya¹,

Borgonovi

Taylor

et al. 2014

BMC Ophthalmol

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BackgroundRetinitis Pigmentosa (RP) is a hereditary genetic disease causing bilateral retinal degeneration. RP is a leading cause of blindness resulting in incurable visual impairment and drastic reduction in the Quality of life of the patients. Second Sight Medical Products Inc. developed Argus II, a retinal prosthesis system for treating RP. Argus II is the world’s first ever-commercial implant intended to restore some vision in the blind patients. The objective of this study was to assess the cost-effectiveness of the Argus® II Retinal Prosthesis System (Argus II) in Retinitis Pigmentosa (RP) patients.MethodA multi -state transition Markov model was developed to determine the cost-effectiveness of Argus II versus usual care in RP from the perspective of healthcare payer. A hypothetical cohort of 1000 RP patients aged 46 years followed up over a (lifetime) 25-year time horizon. Health outcomes were expressed as quality adjusted life years (QALYs) and direct healthcare costs expressed in 2012 €. Results are reported as incremental cost per ratios (ICERs) with outcomes and costs discounted at an annual rate of 3.5%.ResultsThe ICER for Argus II was €14,603/QALY. Taking into account the uncertainty in model inputs the ICER was €14,482/QALY in the probabilistic analysis. In the scenarios of an assumption of no reduction on cost across model visual acuity states or a model time horizon as short as 10 years the ICER increased to €31,890/QALY and €49,769/QALY respectively.ConclusionThis economic evaluation shows that Argus II is a cost-effective intervention compared to usual care of the RP patients. The lifetime analysis ICER for Argus II falls below the published societal willingness to pay of EuroZone countries.

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Cone dysfunctions in retinitis pigmentosa with retinal nerve fiber layer thickening

Cited by 10 publications

References 12 publications

Severe retinal degeneration in females with c.2543del mutation in the RPGR gene

Severe retinal degeneration in females with c.2543del mutation in the RPGR gene

Impact of intravitreal ranibizumab, aflibercept and bevacizumab on retinal ganglion cell and nerve fibre layer thickness in Neovascular age‐related macular degeneration

The cost-effectiveness of the Argus II retinal prosthesis in Retinitis Pigmentosa patients

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