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Aim of the present study is to evaluate the relationship between genetic and phenotypic data in a series of patients affected by grade I and II of foveal hypoplasia with stable fixation and good visual acuity using multimodal imaging techniques. All patients underwent complete clinical and instrumental assessment including structural Optical Coherence Tomography (OCT), OCT Angiography and Adaptive Optics (AO) imaging. Central macular thickness (CMT), inner nuclear layer (INL), vessel density in superficial capillary plexus were the main variables evaluated with OCT technology. Cone density, cone spacing, cone regularity, cone dispersion and angular density were the parameters evaluated with AO. Genetic evaluation and trio exome sequencing were performed in all affected individuals. Eight patients (3 males and 5 females) with a mean age of 12.62 years (range 8-18) were enrolled. The mean best corrected visual acuity (BCVA) was 0.18 ± 0.13 logMAR, mean CMT was 291.9 ± 16.6 µm and INL was 26.2 ± 4.6 µm. The absence of a foveal avascular zone (FAZ) was documented by examination of OCT-A in seven patients in the superficial capillary plexus. However, there was a partial FAZ in the deep plexus in patients P5 and P8. Of note, all the patients presented with major retinal vessels clearly crossing the foveal center. All individuals exhibited a grade I or II of foveal hypoplasia. In 5 patients molecular analyses showed an extremely mild form of albinism caused by compound heterozygosity of a TYR pathogenic variant and the hypomorphic p.[Ser192Tyr;Arg402Gln] haplotype. One patient had Waardenburg syndrome type 2A caused by a de novo variant in MITF. Two patients had inconclusive molecular analyses. All the patients displayed abnormalities on OCT-A. Photoreceptor count did not differ from normal subjects according to the current literature, but qualitative analysis of AO imaging showed distinctive features likely related to an abnormal pigment distribution in this subset of individuals. In patients with foveal hypoplasia, genetic and multimodal imaging data, including AO findings, can help understand the physiopathology of the foveal hypoplasia phenotype. This study confirms that cone density and visual function can both be preserved despite the absence of a pit.
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Fóvea Central , Imagen Multimodal , Fenotipo , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Masculino , Niño , Femenino , Adolescente , Tomografía de Coherencia Óptica/métodos , Fóvea Central/anomalías , Fóvea Central/patología , Fóvea Central/diagnóstico por imagen , Imagen Multimodal/métodos , Angiografía con Fluoresceína/métodos , Albinismo/genéticaRESUMEN
PURPOSE: To report a new surgical technique involving a human amniotic membrane patch (hAM) to solve a serous macular detachment associated with optic nerve head pit. METHODS: Three eyes of three patients affected by macular detachment associated with optic nerve head pit were enrolled. A 23-gauge pars plana vitrectomy were performed. hAM patch was implanted inside the optic nerve pit; air was used as endotamponade. The patients were instructed to maintain face-down position for the first days after surgery. RESULTS: The subretinal fluid gradually resolved during 6 months of follow-up, and visual acuity improved to 20/25 at the sixth month after surgery. We did not observe a recurrence of subretinal fluid during the 6 months of follow-up. No postoperative complications were reported during the follow-up. CONCLUSION: Implant of the hAM may be effective to repair optic disk pit maculopathy. All the cases were successful with encouraging visual acuity recovery.
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Anomalías del Ojo , Disco Óptico , Desprendimiento de Retina , Humanos , Amnios , Tomografía de Coherencia Óptica , Anomalías del Ojo/complicaciones , Anomalías del Ojo/cirugía , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/etiología , Desprendimiento de Retina/cirugía , Vitrectomía/métodosRESUMEN
Macular neovascularization (MNV) and geographic atrophy can complicate age-related macular degeneration (AMD) and lead to severe visual acuity reduction. Despite the medical treatments available, with a defect in the retinal pigmented epithelium (RPE) there is no possibility of restoring acceptable visual acuity. We evaluated postoperative outcomes in patients affected by advanced AMD who underwent subretinal implant of the human amniotic membrane (hAM) as a source of pluripotent stem cells. This retrospective, consecutive, non-randomized interventional study included 23 eyes of 21 patients affected by AMD complicated by MNV, and five eyes of five patients affected by geographic atrophy. All eyes underwent a pars plana vitrectomy, neovascular membrane removal for the MNV group, a subretinal implant of hAM, and gas tamponade, and were followed for 12 months. The primary study outcome was visual acuity improvement. Secondary outcomes were postoperative complications, OCT-angiography parameters correlated with best-corrected visual acuity (BCVA) and MNV recurrence. The mean preoperative BCVA was 1.9 logMAR, and the mean final BCVA value was 1.2 logMAR. In the MNV group, the mean BCVA improved from 1.84 logMAR to 1.26 logMAR, and from 1.84 logMAR to 1.32 logMAR in the geographic atrophy group. No MNV recurrence was evident in 12 months of follow-up. An OCT-angiography scan was used to evaluate the retinal vascularization in the treated eye, which showed a high correlation between BCVA and deep vascular density. This study demonstrates the hAM potential and safety in promoting a partial restoration of retinal function together with an increase in visual acuity.
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PURPOSE: To describe and evaluate the effectiveness of a new technique to close 23-gauge sclerotomies in transconjunctival pars plana vitrectomy. MATERIALS AND METHODS: A prospective, consecutive, interventional study of 90 eyes of 90 patients who underwent 23-gauge pars plana vitrectomy with the introduction of the new sealing technique was conducted. The 23-gauge sclerotomies were hydrated with a 30-gauge needle inserted in the scleral stroma near the scleral opening. RESULTS: A total of 90 eyes of 90 patients were recruited in the study. The number of the eyes requiring suture for sclerotomy closure was 3.3% (3 of 90), and the sclerotomies requiring suture were 1.4% (4 of 270). Three eyes had hypotony on Day 1. No statistically significant difference was registered between preoperative intraocular pressure and postoperative intraocular pressure on Days 15 and 30. No leaking of endotamponade bubble filling was noticed on Day 1. No postoperative complications were registered during the follow-up period. CONCLUSION: The intrascleral stroma hydration is a simple and fast technique that does not require extra surgical materials.
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Esclerostomía , Vitrectomía , Humanos , Vitrectomía/métodos , Esclerostomía/métodos , Estudios Prospectivos , Estudios Retrospectivos , Esclerótica/cirugía , Técnicas de SuturaRESUMEN
OBJECTIVE: To document comparative analysis of macular microstructures of eyes treated with autologous internal limiting membrane (ILM) transplant and human Amniotic Membrane (hAM) plug transplant for failed macular holes (FMH). MATERIALS AND METHODS: Six patients who underwent successful surgeries for FMH were evaluated. The first three patients had undergone autologous ILM transplant, the others had undergone hAM plug transplant. They were examined using Adaptive Optics (AO) at baseline and at 6 months after surgery; OCT and OCT-Angiography were performed at 6 months. All images were evaluated morphologically; AO images were also analysed using the internal software. RESULTS: Regarding the AO analysis in ILM-patients, the average cone density inside the lesion was 7684.44 ± 362.96 and the total spacing was 10.86 ± 0.97. In hAM-patients, the average cone density inside the plug area was 10197.9 ± 326.62 and the total spacing was 10.6 ± 0.72. It was not possible to analyse cone density in the area outside the lesion on any patients. All patients were also evaluated morphologically. OCT analysis in ILM-patients showed a subverted anatomical situation, while in hAM-patients revealed the regrowth of tissue layers and a resumption of foveal depression. OCT-Angiography analysis revealed an enlargement of the FAZ in ILM-patients and a fairly normal appearance and size of the FAZ in hAM-patients, in comparison to the fellow eye. CONCLUSIONS: Our findings require validation with a longer follow-up in a larger quantity of patients, but already suggest important differences in the cellular mechanism that underlies the tissue remodelling in these two techniques.
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Membrana Epirretinal , Perforaciones de la Retina , Amnios , Membrana Basal/cirugía , Membrana Epirretinal/cirugía , Humanos , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/cirugía , Estudios Retrospectivos , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Vitrectomía/métodosRESUMEN
Purposes: To study the clinical and genetic background of a series of Italian patients affected by pattern dystrophy (PD).Methods: We reviewed patients with a clinical diagnosis of PD examined at the Eye Clinic in Florence from 2012 to 2019. We took into consideration patients with a standard ophthalmological examination, personal and familial ophthalmological history, fundus imaging, and molecular genetic analysis of genes PRPH2 and BEST1. We labelled patients with BEST1 and PRPH2 mutations as m-PD group (mutated) whereas patients with no mutations in these 2 genes as nm-PD group (non-mutated).Results: Seventy-seven PD patients were assessed (average age 59.7 ± 14.2, range 31-88 years). Fifty patients were placed in the nm-PD group and 27 in the m-PD. Pathogenic BEST1 and PRPH2 mutations were detected in 7% and 22% of PD patients, respectively. In total, we reported 1 BEST1 and 8 PRPH2 novel mutations. Ten patients were characterized by drusen in the nm-PD group whereas in no patients in the m-PD group drusen were detected at the fundus.Conclusions: An important proportion of patients affected by PD showed BEST1 or PRPH2 mutations. Patients affected by drusen represent a different sub-phenotype. Genetic examination is recommended for a correct clinical management.
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Bestrofinas/genética , Mutación , Periferinas/genética , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Adulto , Anciano , Anciano de 80 o más Años , Colorantes/administración & dosificación , Femenino , Angiografía con Fluoresceína , Humanos , Verde de Indocianina/administración & dosificación , Masculino , Persona de Mediana Edad , Fenotipo , Drusas Retinianas/diagnóstico , Drusas Retinianas/genética , Tomografía de Coherencia Óptica , Agudeza Visual/fisiologíaRESUMEN
BACKGROUND/PURPOSE: To determinate the efficacy of the human amniotic membrane plugs with sulfur hexafluoride versus human amniotic membrane plug with air as endotamponade to treat macular holes that failed to close after vitrectomy plus internal limiting membrane peeling. Multimodal imaging was focused to evaluate preoperative features and postoperative changes. METHODS: Prospective interventional comparative study. Twenty eyes of 20 patients affected with macular hole that failed to close were divided into 2 groups: 10 eyes received an amniotic membrane plug with 20% sulfur hexafluoride tamponade and 10 eyes received an amniotic membrane plug with air tamponade. All eyes were studied using multimodal advanced diagnostic tools, such as spectral-domain optical coherence tomography, optical coherence tomography angiography, microperimetry, and adaptive optics to investigate the postoperative results. RESULTS: In both groups, all macular holes were found successfully closed after 12 months. Mean preoperative best-corrected visual acuity was 20/400 in the SF6 group and 20/250 in air group. Final mean best-corrected visual acuity was 20/63 in both groups. The superficial capillary plexus, studied using optical coherence tomography angiography, showed a statistically significant difference between the treated and the fellow eyes. Adaptive optics images revealed the presence of a photoreceptor cell mosaic in the area of the amniotic membrane plug. CONCLUSION: The human amniotic membrane combined with air endotamponade demonstrated its effectiveness to seal macular holes that failed to close after vitrectomy plus internal limiting membrane peeling. Advanced multimodal diagnostic imaging helped us to better understand the modifications associated with the use of the amniotic membrane in these cases.
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Aire , Amnios/trasplante , Endotaponamiento/métodos , Perforaciones de la Retina/terapia , Hexafluoruro de Azufre/administración & dosificación , Adulto , Anciano , Anciano de 80 o más Años , Terapia Combinada , Femenino , Angiografía con Fluoresceína , Humanos , Masculino , Persona de Mediana Edad , Posición Prona , Estudios Prospectivos , Perforaciones de la Retina/fisiopatología , Perforaciones de la Retina/cirugía , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Agudeza Visual/fisiología , VitrectomíaRESUMEN
The failed macular hole is a full-thickness defect involving the fovea that fails to close despite 1 or more surgeries. While many surgical options have been proposed to manage it, none of these guarantee complete anatomical success and satisfactory visual recovery. We report postoperative outcomes on 36 patients affected by failed macular hole, treated with a human amniotic membrane plug transplant. Follow-ups were performed with a standard ophthalmological examination and with advanced multimodal diagnostic imaging. Anatomical closure was achieved at 3 months in all patients. Mean best-corrected visual acuity improved statistically significantly at 6 months (p < 0.05). Through microperimetric tests, we assessed a partial recovery of the macular sensitivity on the edges of the plug. Analyzing SD-OCT images, we reported a tissutal ingrowth above the plug, and its segmentation into layers, mimicking normal retinal architecture. OCT-Angiography images non invasively analysed the retinal parafoveal capillary microvasculature; the elaboration of Adaptive Optics images showed the presence of photoreceptors at the edges of the plug. This work demonstrates not only the complete anatomical success of our technique, but also remarkable functional results, and opens the door to a greater understanding of modifications induced by the presence of a human amniotic membrane plug.
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Amnios/trasplante , Ojo/patología , Retina/patología , Perforaciones de la Retina/cirugía , Tomografía de Coherencia Óptica/métodos , Agudeza Visual , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Periodo Posoperatorio , Perforaciones de la Retina/etiología , Perforaciones de la Retina/patologíaRESUMEN
Recently, the use of the human amniotic membrane (hAM) has been extended to treat retinal disorders, such as macular holes that failed to close and retinal tears. The hAM has demonstrated the induction of a recovery process of the external retinal layers involving the external limiting membrane (ELM) and the ellipsoid zone (EZ). After that, the application of the hAM for retinal pathologies was extended to large macular tears, high myopic retinal detachment associated with MH, paravascular tears, serous macular detachment associated with optic pit, complicated retinal detachment and advanced age-related macular degeneration (AMD). The hAM has shown a potential in repairing retinal tissue through a regeneration process. This review aims to highlight the use of the hAM in various vitreo-retinal surgical fields, and to confront it with other cutting-edge surgical techniques used to treat challenging vitreo-retinal pathologies.
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PURPOSE: Age-related macular degeneration (AMD) is the leading cause of legal blindness in adults 65 years of age and older. Choroidal neovascularization (CNV) can complicate AMD and lead to severe visual acuity reduction. Despite the several treatments available, if the retinal pigment epithelium is damaged, we have to cope with the impossibility of restoring acceptable visual acuity using only medical treatments. DESIGN: Prospective, consecutive, interventional study. PARTICIPANTS: Eleven patients affected by AMD, 6 patients affected by CNV, and 5 patients affected by geographic atrophy. METHODS: All patients underwent a pars plana vitrectomy with subretinal implantation of human amniotic membrane (hAM) to induce photoreceptor regeneration and partial visual acuity restoration. MAIN OUTCOME MEASURES: Primary study outcome was visual acuity improvement. Secondary outcomes were multimodal imaging results. RESULTS: Mean preoperative best-corrected visual acuity (BCVA) was 20/2000 (2 logarithm of the minimum angle of resolution [logMAR]), and all the patients showed a BCVA of counting fingers or less. Mean final BCVA was 20/400 (1.31 logMAR), ranging from 20/2000 to 20/100 (2-0.7 logMAR). OCT angiography was used to measure retinal vascularization in the treated eye compared with the fellow eye. A high correlation between BCVA and deep vascular density was evidenced. Adaptive optics findings, obtained over the retinal area where the highest functionality was observed, were evaluated using microperimetry. The images showed possible photoreceptor presence over the hAM membrane. CONCLUSIONS: This work supports the feasibility and safety of the hAM to promote partial retinal function restoration 6 months after surgery with visual acuity improvement. The advanced diagnostics help to understand the interaction between the hAM and photoreceptors and suggest that photoreceptor regeneration may occur.
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Amnios/trasplante , Degeneración Macular/cirugía , Células Fotorreceptoras de Vertebrados/patología , Recuperación de la Función , Agudeza Visual/fisiología , Vitrectomía/métodos , Anciano , Anciano de 80 o más Años , Femenino , Angiografía con Fluoresceína/métodos , Fondo de Ojo , Humanos , Degeneración Macular/diagnóstico , Masculino , Estudios Prospectivos , Epitelio Pigmentado de la Retina/patología , Tomografía de Coherencia Óptica/métodos , Resultado del TratamientoRESUMEN
PURPOSE: To assess the effectiveness of the human amniotic membrane plug for recurrent high myopic macular hole (MH) that already underwent pars plana vitrectomy with internal limiting membrane peeling and gas endotamponade. METHODS: Sixteen eyes of 16 patients with recurrent high myopic MH were enrolled. A 23-gauge pars plana vitrectomy was performed. Human amniotic membrane plugs were implanted under the neuroretina inside the MH. Twenty percent sulfur hexafluoride or air was used as endotamponades. The patients were instructed to maintain facedown position for 5 days after surgery. RESULTS: Optical coherence tomography examinations showed that the MHs closed in 15 of the 16 patients (93.75%) 2 weeks after one surgical intervention, and in 100% of patients after second intervention. Mean best-corrected visual acuity improved from 1 logarithm of the minimum angle of resolution (20/200) to 0.67 logarithm of the minimum angle of resolution (20/100) 6 months after surgery. Best-corrected visual acuity remained stable during the 12-month follow-up. One patient had human amniotic membrane plug dislocation after gas absorption that needed a second intervention with new AM plug implantation. No adverse events were reported during the 12-month follow-up. CONCLUSION: The first case series of recurrent high myopic MH was reported, assessing the effectiveness of the human amniotic membrane plug to close recurrent MHs in pathologic myopia. All the cases were successful with encouraging best-corrected visual acuity recovery.
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Amnios/trasplante , Longitud Axial del Ojo/patología , Miopía Degenerativa/complicaciones , Perforaciones de la Retina/cirugía , Anciano , Anciano de 80 o más Años , Endotaponamiento , Femenino , Humanos , Masculino , Persona de Mediana Edad , Recurrencia , Perforaciones de la Retina/diagnóstico por imagen , Perforaciones de la Retina/etiología , Perforaciones de la Retina/fisiopatología , Estudios Retrospectivos , Hexafluoruro de Azufre/administración & dosificación , Tomografía de Coherencia Óptica , Agudeza Visual/fisiología , VitrectomíaRESUMEN
OBJECTIVE: To assess the efficacy of the human amniotic membrane (hAM) to treat (HMMH) associated with retinal detachment (RD). MATERIAL AND METHODS: Ten eyes of 10 patients with recurrent HMMH and RD, who had already undergone one or more pars plana vitrectomy (PPV), underwent a PPV with an hAM plug implanted in the macular hole. The initial five patients enrolled were tamponaded with (SO) while the subsequent five patients with 10% octafluoropropane (C3 F8 ). Silicon oil was removed in all five patients 2 months later. No statistical differences were reported between the two groups. RESULTS: Final retinal reattachment was achieved in all the patients. BCVA improved from 1.73 logMAR to 0.94 logMAR after 6 months. No adverse events were registered during follow-up. CONCLUSION: An hAM plug is an efficient substrate to manage HMMH associated with RD resulting in encouraging visual acuity recovery.
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Amnios/trasplante , Miopía Degenerativa/complicaciones , Desprendimiento de Retina/cirugía , Perforaciones de la Retina/cirugía , Anciano , Endotaponamiento , Femenino , Fluorocarburos/administración & dosificación , Humanos , Masculino , Persona de Mediana Edad , Desprendimiento de Retina/etiología , Desprendimiento de Retina/fisiopatología , Perforaciones de la Retina/etiología , Perforaciones de la Retina/fisiopatología , Estudios Retrospectivos , Aceites de Silicona/administración & dosificación , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Agudeza Visual/fisiología , VitrectomíaRESUMEN
PURPOSE: To describe a new surgical technique, using a human amniotic membrane patch, in two cases of retinal detachment with paravascular retinal breaks over patchy chorioretinal atrophy in pathologic myopia, already underwent pars plana vitrectomy with the internal limiting membrane peeling for myopic foveoschisis. METHODS: Surgical technique description with surgical video. A 23-gauge pars plana vitrectomy was performed. A human amniotic membrane patch was implanted under the neuroretina to seal the posterior retinal break. Standard silicone oil tamponade was performed at the end of the surgery. The patients were positioned face down after the operation for the first week. Optical coherence tomography scans were used in the follow-ups. RESULTS: The 2 weeks postoperative optical coherence tomography showed a new tissue growth over the human amniotic membrane patch. The 3 months optical coherence tomography showed the new tissue entirely covering the human amniotic membrane plug. Visual acuity improved from 20/2000 (2 LogMAR) to 20/250 (1.1 LogMAR) 3 months after the operation in both patients. The silicone oil was extracted 2 months after surgery, and no recurrences were observed. The patient's visual acuity remained stable at 20/250 after the silicone oil extraction. CONCLUSION: In these complex cases, human amniotic membrane transplantation can be a valid option, when internal limiting membrane has already been peeled in previous surgeries, to seal the posterior retinal breaks over high myopic chorioretinal atrophy, with encouraging results.
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Amnios/cirugía , Miopía Degenerativa/complicaciones , Desprendimiento de Retina/cirugía , Perforaciones de la Retina/cirugía , Vitrectomía/métodos , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miopía Degenerativa/cirugía , Retina/patología , Retinosquisis/cirugía , Estudios Retrospectivos , Aceites de Silicona/administración & dosificación , Tomografía de Coherencia Óptica , Agudeza VisualRESUMEN
PURPOSE: To report a novel finding in patients with Fabry disease, that is, the observation by adaptive optics ophthalmoscopy of intracellular lipidic deposits in retinal vessels. METHODS: Observational two-center case series. Eighteen patients with genetically proven Fabry disease underwent flood-illumination adaptive optics ophthalmoscopy imaging (rtx1; Imagine Eyes, Orsay, France) of retinal vessels. RESULTS: Fourteen patients (78% of all patients; 7 of the 10 women and 7 of the 8 men) showed paravascular punctuate or linear opacities in both eyes. In the least-affected patients, these were seen only in the wall of precapillary arterioles as discrete spots of 5 µm to 10 µm large, whereas in those more severely affected, capillaries and first-order vessels were also involved with diffuse opacification of the wall. These deposits sometime showed a striated pattern, suggesting colocalization with vascular smooth muscle cells. CONCLUSION: Adaptive optics ophthalmoscopy of retinal vessels may be of interest for patients with Fabry disease, providing noninvasive, gradable evaluation of microvascular involvement.
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Arteriolas/patología , Enfermedad de Fabry/fisiopatología , Músculo Liso Vascular/metabolismo , Oftalmoscopía/métodos , Arteria Retiniana/patología , Esfingolípidos/metabolismo , Adulto , Anciano , Arteriolas/diagnóstico por imagen , Enfermedad de Fabry/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Liso Vascular/diagnóstico por imagen , Óptica y Fotónica , Arteria Retiniana/diagnóstico por imagen , Adulto JovenRESUMEN
PURPOSE: To describe a surgical technique, using a human amniotic membrane (hAM) plug, in two cases of retinal detachment with a large macular tear. METHODS: Surgical technique description with surgical video. A 23-gauge pars plana vitrectomy with peripheral retinectomy was performed. An hAM plug was implanted under the neuroretina to seal the posterior retinal break. Standard silicone oil tamponade was performed at the end of the surgery. The patients were positioned face down after the operation for the first 2 weeks. Optical coherence tomography (OCT) scans were performed in the follow-ups. RESULTS: The 1 week postoperative OCT showed a neuroretina ingrowth over the hAM plug. The 3-month OCT showed a regenerated neurosensory retina entirely covering the hAM plug. Visual acuity improved from light perception to 20/400 (LogMAR 1,3) 3 months after the operation in both patients. The silicone oil was extracted 4 months after surgery, and no recurrences were observed. The patients' visual acuity remained stable at 20/400 after the silicone oil extraction. CONCLUSION: In these complex cases, hAM transplantation can be a valid option not only to help the retinal reattachment but also for a partial regenerative effect which, in these cases, was accompanied by a visual acuity recovery.
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Amnios/trasplante , Apósitos Biológicos , Mácula Lútea/patología , Desprendimiento de Retina/cirugía , Perforaciones de la Retina/cirugía , Vitrectomía/métodos , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Masculino , Desprendimiento de Retina/complicaciones , Desprendimiento de Retina/diagnóstico , Perforaciones de la Retina/diagnóstico , Perforaciones de la Retina/etiología , Tomografía de Coherencia ÓpticaRESUMEN
PURPOSE: To describe the clinical features of 2 unrelated families affected with Benign Yellow Dot Maculopathy and to analyze anatomical and functional findings of this peculiar phenotype Methods: Case series Results: We retrospectively described 5 patients (3 males, 2 females) affected with Benign Yellow Dot Maculopathy. The mean age at referral was 50,8 years (range 34-69 yrs.). All patients were characterized by a good visual acuity (20/20 in both eyes) and by symmetric multiple yellow dots at the posterior pole in both eyes. In 3 patients (P1, P3, P4) the yellow dots were mainly located at the nasal side of the macula. The yellow dots appeared hyper-autofluorescent at the fundus autofluorescence (FAF) imaging. OCT examination revealed in 3 patients (P1, P3, P4) mild irregularities at the level of the retinal pigment epithelium (RPE) and at the interdigitation (IZ) and ellipsoid zone (EZ). OCT angiography (OCT-A), performed in 3 patients (P1, P4,P5), was normal. Adaptive Optics imaging (AO) showed a peculiar pattern of the cone mosaic: the yellow dots were detectable as hyper-reflective lesions at the macular region. In 2 patients (P1, P4) we reported a follow-up of 2 and 18 years respectively. Genetic examination performed on patient P1 did not reveal pathogenic variants for retinal dystrophies. CONCLUSIONS: Our work confirmed the benign nature of this peculiar macular phenotype showing a normal macular function and a stable clinical picture during a long-term follow-up. Multimodal imaging allows a detailed detection and monitoring of Benign Yellow Dot Maculopathy.
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Mácula Lútea/diagnóstico por imagen , Degeneración Macular/diagnóstico por imagen , Epitelio Pigmentado de la Retina/diagnóstico por imagen , Adulto , Anciano , Electrorretinografía , Femenino , Angiografía con Fluoresceína , Humanos , Mácula Lútea/patología , Degeneración Macular/patología , Masculino , Persona de Mediana Edad , Imagen Multimodal , Imagen Óptica , Epitelio Pigmentado de la Retina/patología , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Agudeza Visual/fisiología , Pruebas del Campo VisualRESUMEN
BACKGROUND AND OBJECTIVE: To assess the efficacy of the amniotic membrane (AM) to close a chronic post-traumatic macular hole (PTMH). PATIENTS AND METHODS: A patient affected by PTMH derived from a blunt trauma occurring 25 years ago who had never undergone surgery was referred to the authors' clinic. He underwent a pars plana vitrectomy (PPV) with an AM plug implant in the macular hole (MH) and 20% sulfur hexafluoride (SF6) as endotamponade. The patient was positioned face-down for the first 5 postoperative days. RESULTS: Prior to surgery, the MH displayed an internal diameter of 971 µm, and the preoperative best-corrected visual acuity (BCVA) was 20/400 (1.3 logMAR). Optical coherence tomography (OCT) showed a chronic MH with flat margins. Ten days after surgery, BCVA was 20/200 (1 logMAR), and the MH was closed. Three months after surgery, BCVA improved to 20/100 (0.7 logMAR), and the MH remained closed. No adverse events were registered during the follow-up period. CONCLUSION: AM plug seems to be useful to close chronic PTMH with good BCVA recovery. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:50-52.].