Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome.
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ABSTRACT: Introduction
Full-thickness macular hole (FTMH) formation is rarely seen in patients with retinitis pigmentosa (RP) and can have an adverse impact on their residual visual function. The underlying mechanisms are unknown, and clinical experience is limited regarding surgical outcomes. Here, we describe the surgical management of FTMH in a young patient with genetically confirmed Usher syndrome, the most common form of syndromic RP.Case report
A 28-year-old woman presented with blurred vision in her right eye (RE). She had a history of RP and bilateral hearing impairment since childhood. Fundoscopy and spectral-domain optical coherence tomography revealed a FTMH in the RE along with typical RP features bilaterally. After pars plana vitrectomy (PPV) with internal limiting membrane peel and gas tamponade, the FTMH closed. Six months after PPV the patient underwent cataract surgery in the affected eye, and the visual acuity remained stable compared to baseline. The clinical diagnosis of Usher syndrome was genetically confirmed by whole exome sequencing (WES), which revealed the presence of two pathogenic nucleotide variants in trans (compound heterozygosity) in the gene USH2A.Conclusion
We report a rare case of successful closure of a FTMH in a patient with Usher syndrome. Surgical treatment of FTMH can help preserve the central vision in RP patients, whose peripheral vision is severely affected.
SUBMITTER: Panagiotou ES
PROVIDER: S-EPMC7406580 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:This review aims to collect the proposed surgical techniques for treating full thickness macular hole (FTMH) refractory to pars plana vitrectomy and internal limiting membrane (ILM) peeling and to analyse and compare anatomical and functional outcomes in order to evaluate their efficacy. The articles were grouped according to the surgical techniques used. Refractory FTMH closure rate and best-corrected visual acuity (BCVA) gain were the two analysed parameters. Thirty-six articles were selected. Ten surgical technique subgroups were defined: autologous platelet concentrate (APC); lens capsular flap transplantation (LCFT); autologous free ILM flap transplantation (free ILM flap); enlargement of ILM peeling, macular hole hydrodissection (MHH), autologous retinal graft (ARG), silicon oil (SO), human amniotic membrane (hAM), perifoveal relaxing retinotomy, arcuate temporal retinotomy. Refractory FTMH closure rate was similar among subgroups, not significant heterogeneity emerged (p = 0.176). BCVA gain showed a significant dependence on surgical technique (p < 0.0001), significant heterogeneity among subgroups emerged (p < 0.0001). Three sets of surgical technique subgroups with a homogeneous BCVA gain were defined: high BCVA gain (hAM); intermediate BCVA gain (APC, ARG, LCFT, MHH, SO); low BCVA gain (free ILM flap, enlargement of peeling, arcuate temporal retinotomy). In terms of visual recovery, the most efficient technique for treating refractory FTMH is hAM, lens capsular flap and APC that allow to obtain better functional outcomes than free ILM flap. MHH, ARG, perifoveal relaxing and arcuate temporal retinotomy require complex and unjustified surgical manoeuvres in view of the surgical alternatives with overlapping anatomical and functional results.
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Project description:The development of a macular hole is relatively common in retinal dystrophies eligible for gene therapy such as choroideremia. However, the subretinal delivery of gene therapy requires an uninterrupted retina to allow dispersion of the viral vector. A macular hole may thus hinder effective gene therapy. Little is known about the outcome of macular hole surgery and its possible beneficial and/or adverse effects on retinal function in patients with choroideremia. We describe a case of a unilateral full-thickness macular hole (FTMH) in a 45year-old choroideremia patient (c.1349_1349+2dup mutation in CHM gene) and its management. Pars plana vitrectomy with internal limiting membrane (ILM) peeling and 20% SF? gas tamponade was performed, and subsequent FTMH closure was confirmed at 4 weeks, 3 months and 5 months postoperatively. No postoperative adverse events occurred, and fixation stability improved on microperimetry from respectively 11% and 44% of fixation points located within a 1° and 2° radius, preoperatively, to 94% and 100% postoperatively. This case underlines that pars plana vitrectomy with ILM peeling and gas tamponade can successfully close a FTMH in choroideremia patients, with subsequent structural and functional improvement. Macular hole closure may be important for patients to be eligible for future submacular gene therapy.
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Project description:IntroductionHere, we present a case of full-thickness macular hole (FTMH) recurrence following two vitrectomies, accompanied by additional internal limiting membrane (ILM) peeling and gas tamponade. Ultimately, FTMH closure was accomplished by spontaneous retinal detachment around the macular hole and gas tamponade alone.Case presentationThe patient, a 54-year-old woman with a lamellar macular hole, had a visual acuity of 20/100 in her left eye. The treatment regimen included cataract surgery, a 25-gauge pars plana vitrectomy involving ILM peeling, application of the lamellar hole epiretinal proliferation embedding technique, and subsequent gas tamponade. Closure of the lamellar macular hole was observed a month post-surgery, improving visual acuity to 20/40. However, FTMH developed 3 months after the initial surgery, resulting in visual acuity decline to 20/100. A 25-gauge pars plana vitrectomy was performed with extensive ILM peeling and 20% sulfur hexafluoride gas tamponade. FTMH closure was noted within 19 days after reoperation, enhancing visual acuity to 20/66. Approximately 1.5 months after reoperation, a pinhole-shaped macular hole was identified, and the patient opted for follow-up observation due to her refusal to undergo additional surgery. As the macular hole gradually enlarged resembling retinal detachment, outpatient fluid-gas exchange with 14% perfluoropropane was performed 3.5 months after reoperation. The FTMH closed within a week post-gas injection and remained closed for more than 1 year. Consequently, visual acuity in the left eye was sustained at 20/50.ConclusionWe encountered a case that might highlight the significance of releasing subretinal adhesions surrounding a FTMH for successful closure.
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Project description:PurposeThis work reviews the literature regarding spontaneous closure of idiopathic full-thickness macular holes (FTMHs).MethodsLiterature on patients with spontaneous idiopathic FTMH closure was reviewed via Ovid MEDLINE, EMBASE, and PubMed through July 16, 2020. A total of 27 of 66 identified articles were included.ResultsA total of 68 eyes had spontaneous closure. Of the patients, 62.7% were women and the average age was 67.5 years. Visual acuity improved from Snellen 20/78 to 20/33 post closure. The average hole diameter was 176.8 μm; the largest was 350 μm. Most were stage 2 according to Gass and of small size according to International Vitreomacular Traction Study Group (IVTS) staging. The predominant classification system in recent literature is IVTS staging. The average optical coherence tomography-observed closure time was 4.5 months.ConclusionsOn review, reported spontaneous closure rates of all idiopathic FTMH range from 3% to 15%, and no demographic subgroups are more likely to have closure. Holes ≤250 µm have higher closure rates (22.2%) than those in the range of >250 to 400 µm (13.3%) and ≥400 µm (0%). Closure is associated with favorable visual outcomes, and retinal bridging via glial cells is likely critical to closure. These determinations were based on limited numbers; prospective studies are needed to further ascertain rate, mechanism, and characteristics. IVTS staging provides reliable reporting and insight into whether FTMH can be observed before surgery.
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Project description:PurposeTo assess the feasibility and interest of measuring macular hole (MH) size using en face optical coherence tomography (OCT) compared with manual diameter measurements on B-scans.MethodsAmong our previously published series of 100 patients operated for primary MH, patients whose images were acquired with Cirrus 5000 HD-OCT (Carl Zeiss Meditec) with a quality signal strength >5/10 were included. Three segmentations (internal limiting membrane, horizontal, and retinal pigment epithelium (RPE)) were compared for obtaining the most appropriate en face image. MH surface areas were measured using ImageJ software. Mean diameters calculated from surface areas (diameter=2 × √(surface area/π)) were compared with those measured on B-scans.ResultsNineteen patients were included with a mean age of 72±8 years (56-86) and a female predominance (3/16). The mean absolute difference between horizontal and vertical diameters measured on B-scans was of 54±47 μm (0-180) without reaching significance (P=0.874). RPE segmentation provided the best en face image and was feasible without and with adjustment, respectively, in 79% and 100% (cases with vitreomacular traction) of cases. No significant difference in mean diameters was observed between those calculated from en face images (435±143 μm (195-693)) and those measured on horizontal B-scans (426±139 μm (214-705), P=0.482).ConclusionMeasuring MH size on en face OCT images is feasible, reliable, and eliminates the potential bias related to manual measurements on B-scans. Its integration into OCT devices would offer an automated and easy-to-use option for clinical practice.
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Project description:PurposeTo evaluate the 1-year visual acuity predictive performance of an artificial intelligence (AI) based model applied to optical coherence tomography angiography (OCT-A) vascular layers scans from eyes with a full-thickness macular hole (FTMH).MethodsIn this observational cross-sectional, single-center study, 35 eyes of 35 patients with FTMH were analyzed by OCT-A before and 1-year after surgery. Superficial vascular plexus (SVP) and deep vascular plexus (DVP) images were collected for the analysis. AI approach based on convolutional neural networks (CNN) was used to generate a continuous predictive variable based on both SVP and DPV. Different pre-trained CNN networks were used for feature extraction and compared for predictive accuracy.ResultsAmong the different tested models, the inception V3 network, applied on the combination of deep and superficial OCT-A images, showed the most significant differences between the two obtained image clusters defined in C1 and C2 (best-corrected visual acuity (BCVA) C1 = 66.67 (16.00 SD) and BCVA C2 = 49.10 (18.60 SD, p = 0.005)).ConclusionsThe AI-based analysis of preoperative OCT-A images of eyes affected by FTMH may be a useful support system in setting up visual acuity recovery prediction. The combination of preoperative SVP and DVP images showed a significant morphological predictive performance for visual acuity recovery.
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Project description:ImportanceThe value of facedown positioning following surgery for large full-thickness macular holes is unknown.ObjectiveTo determine whether advice to position facedown postoperatively improves the outcome for large macular holes.Design, setting, and participantsThis randomized, parallel group superiority trial with 1:1 randomization stratified by site with 3 months' follow-up was conducted at 9 sites across the United Kingdom and included participants with an idiopathic full-thickness macular hole of at least 400 μm minimum linear diameter and a duration of fewer than 12 months. All participants had vitrectomy surgery with peeling of the internal limiting membrane and injection of perfluoropropane (14%) gas, with or without simultaneous surgery for cataract.InterventionsFollowing surgery, participants were randomly advised to position either facedown or face forward for 8 hours daily for 5 days.Main outcomes and measuresThe primary outcome was closure of the macular hole determined 3 months following surgery by masked optical coherence tomography evaluation. Secondary outcome measures at 3 months were visual acuity, participant-reported experience of positioning, and quality of life measured by the National Eye Institute Visual Function Questionnaire 25.ResultsA total of 185 participants (45 men [24.3%]; 156 white [84.3%]; 9 black [4.9%]; 10 Asian [5.4%]; median age, 69 years [interquartile range, 64-73 years]) were randomized. Macular hole closure was observed in 90 (85.6%) who were advised to position face forward and 88 (95.5%) advised to position facedown (adjusted odds ratio, 3.15; 95% CI, 0.87-11.41; P = .08). The mean (SD) improvement in best-corrected visual acuity at 3 months was 0.34 (0.69) logMAR (equivalent to 1 Snellen line) in the face-forward group and 0.57 (0.42) logMAR (equivalent to 3 Snellen lines) in the facedown group (adjusted mean difference, 0.22 [95 % CI, 0.05-0.38]; equivalent to 2 Snellen lines); 95% CI, 0.05-0.38; P = .01). The median National Eye Institute Visual Function Questionnaire 25 score was 89 (interquartile range, 76-94) in the facedown group and 87 (interquartile range, 73-93) in the face-forward group (mean [SD] change on a logistic scale, 0.08 [0.26] face forward and 0.11 [0.25] facedown; adjusted mean [SD] difference on a logistic scale, 0.02; 95% CI, -0.03 to 0.07; P = .41).Conclusions and relevanceThe results do not prove that facedown positioning following surgery is more likely to close large macular holes compared with facing forward but do support the possibility that visual acuity outcomes may be superior.Trial registrationIsrctn.org Identifier: 12410596.
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