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PURPOSE: To compare functional and morphological outcomes of Subthreshold Laser (STL) and Oral Spironolactone (SPR) in treating chronic central serous chorioretinopathy (CSCR). METHODS: This is a retrospective observational study. Treatment-naïve patients with chronic CSCR treated with STL or SPR were included, and data was reviewed at baseline, 1, 3, 6 and 12-month follow-up. Main outcome measures were changes in Central Macular Thickness (CMT) and Subretinal Fluid (SRF) height, and complete resolutions of SRF. Sub-analysis based on retinal pigmented epithelium (RPE) status at baseline was performed. RESULTS: 47 and 47 patients received STL and SPR, respectively. At all timepoints, both treatments significantly improved CMT and SRF (p < 0.05). No significant changes in best corrected visual acuity (BCVA) were recorded and no significant differences between treatment groups were present at each corresponding follow-up. Complete resolution of SRF was achieved in 29% and 36% of patients treated with STL or SPR, respectively, at 12-months follow up. Eyes treated with STL and intact RPE showed significant SRF decrease at 6 months and significantly better BCVA at 1, 3 and 6 months compared to eyes with disrupted RPE layer (p < 0.05). In both treatment groups, intact RPE was associated with a higher rate of complete SRF resolutions, with 43% vs 13% in the STL group and 50% vs 26% in the SPR group. CONCLUSION: STL and SPR are effective treatments for chronic CSCR. Greater resolution of subretinal fluid was observed in eyes with intact RPE, hence both treatments should be initiated in the earlier stages of the disease.
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Coriorretinopatia Serosa Central , Espironolactona , Humanos , Espironolactona/uso terapêutico , Coriorretinopatia Serosa Central/diagnóstico , Coriorretinopatia Serosa Central/tratamento farmacológico , Estudos Retrospectivos , Antagonistas de Receptores de Mineralocorticoides/uso terapêutico , Angiofluoresceinografia , Tomografia de Coerência Óptica , Lasers , Doença CrônicaRESUMO
PURPOSE: To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively. METHODS: Eighty-eight patients with a clinical diagnosis of USH1 (26 patients) or USH2 (62 patients) were retrospectively evaluated. Of these, 48 patients had 2 disease-causing mutations in MYO7A (10 USH1 patients), USH2A (33 USH2 patients), and other USH (5 patients) genes. Clinical investigation included best-corrected visual acuity, Goldmann visual field, fundus photography, electroretinography, and audiologic and vestibular assessments. Longitudinal analysis was performed over a median follow-up time of 3.5 years. RESULTS: Patients carrying mutations in MYO7A had a younger age of onset of hearing and visual impairments than those carrying mutations in USH2A, leading to an earlier diagnosis of the disease in the former patients. Longitudinal analysis showed that visual acuity and visual field decreased more rapidly in subjects carrying MYO7A mutations than in those carrying USH2A mutations (mean annual exponential rates of decline of 3.92 vs. 3.44% and of 8.52 vs. 4.97%, respectively), and the former patients reached legal blindness on average 15 years earlier than the latter. CONCLUSION: The current study confirmed a more severe progression of the retinal disease in USH1 patients rather than in USH2 patients. Furthermore, most visual symptoms (i.e., night blindness, visual acuity worsening) occurred at an earlier age in USH1 patients carrying mutations in MYO7A.
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DNA/genética , Proteínas da Matriz Extracelular/genética , Mutação , Miosinas/genética , Síndromes de Usher/genética , Acuidade Visual , Campos Visuais , Adolescente , Adulto , Análise Mutacional de DNA , Progressão da Doença , Eletrorretinografia , Proteínas da Matriz Extracelular/metabolismo , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Miosina VIIa , Miosinas/metabolismo , Fenótipo , Retina/diagnóstico por imagem , Retina/fisiopatologia , Estudos Retrospectivos , Fatores de Tempo , Tomografia de Coerência Óptica , Síndromes de Usher/diagnóstico , Síndromes de Usher/fisiopatologia , Adulto JovemRESUMO
OBJECTIVES: To investigate visual outcomes and prognostic factors of patients with Terson syndrome (TS) managed with observation or pars plana vitrectomy (PPV). METHODS: retrospective review of medical records of 117 eyes from 81 patients (43 females) with TS. Main outcome measures were final best corrected visual acuity (BCVA), intraoperative findings and long-term sequelae. RESULTS: 46 (39.3%) eyes were managed conservatively and 71 (60.7%) eyes underwent PPV. Median follow-up was 8.4 months. The PPV group had significantly worse (p < 0.001) baseline BCVA (median 2.3 versus 0.7 logMAR, Snellen equivalent 20/4000 versus 20/100). Final BCVA did not differ between the two groups (p = 0.38). Final BCVA ≥ 0.3 logMAR (20/40) in the surgery group was associated with post-operative retinal detachment (p = 0.013) and macular abnormalities (p = 0.014), and in the observation group with ocular comorbidity (p = 0.008). Retinal breaks were detected intraoperatively in 25 (35.2%) eyes and were associated with an interval longer than 3 months between ocular diagnosis and surgery (p = 0.04), but not with larger gauge instrumentation and posterior vitreous detachment. Incidence of ERM did not differ among patients managed conservatively and after PPV (p = 0.9) and between eyes undergoing early or delayed surgery (p = 0.09). The most common post-operative complications were cataract in 16 (22.5%) eyes and ERM in 8 (11.3%) eyes. CONCLUSIONS: visual outcomes in TS are similar with both management strategies. Surgery allows faster and greater visual recovery but carries high risk of intraoperative retinal tears if delayed for longer than 3 months from initial presentation. ERM and retinal detachment are not correlated with timing of surgery or management strategy.
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Acuidade Visual , Vitrectomia , Humanos , Feminino , Masculino , Acuidade Visual/fisiologia , Estudos Retrospectivos , Adulto , Pessoa de Meia-Idade , Adolescente , Adulto Jovem , Criança , Descolamento Retiniano/cirurgia , Descolamento Retiniano/fisiopatologia , Pré-Escolar , Síndrome , Prognóstico , Seguimentos , Complicações Pós-Operatórias , IdosoRESUMO
AIM: To report local tumour control, metastasis and survival rates of patients with small choroidal melanoma (CM) after treatment with ruthenium-106 (Ru-106) plaque brachytherapy. METHODS: Retrospective case series of 353 consecutive eyes with small CM (thickness ≤2.5 mm and largest basal diameter ≤16 mm) treated with Ru-106 brachytherapy at the London Ocular Oncology Service, between October 2004 and May 2019. RESULTS: The final cohort included 310 eyes and tumour recurrence was observed in 52 (17%) eyes. Ocular retention rate was 96%. Metastatic disease and tumour-related death occurred in 18 (5.8%) and 12 (3.9%) patients, respectively. Metastases were diagnosed after a median of 54 (54±35; range 3.6-118) months from initial treatment. Kaplan-Meier estimates for tumour recurrence, melanoma-related metastases and survival were 17% (95% CI 13.3% to 22.9%), 4.8% (95% CI 2.6% to 8.5%) and 98% (95% CI 94.4% to 99.1%) at 5 years and 26% (95% CI 18.3% to 35.3%), 16% (95% CI 8.7% to 27.7%) and 92% (95% CI 84.5% to 95.7%) at 10 years, respectively. On multivariable analysis, factors predictive for tumour recurrence included juxtapapillary location, larger plaque and final tumour thickness, and for metastasis exudative retinal detachment. CONCLUSION: Small CMs treated with Ru-106 brachytherapy show recurrence and death rates of 17% and 2% at 5 years and 26% and 8% at 10 years. As small CMs have better prognosis than large tumours, early treatment is the key for better survival outcomes.
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PURPOSE: To describe clinical features and therapeutic management of a case of isolated subretinal abscess (SRA) in an immunocompetent male patient with no predisposing conditions or risk factors. METHODS: Clinical data, including medical history, clinical findings and results of systemic investigations, were retrospectively collected in a 40-year-old man diagnosed with unilateral focal SRA. RESULTS: Systemic investigations did not reveal any extraocular infective focus. Prompt diagnosis of SRA and aggressive systemic antibiotic treatment averted breakthrough into the vitreous cavity and led to clinical resolution with preservation of visual acuity. No local recurrences or distal spread of the infection were found at follow-up. CONCLUSIONS: In isolated SRA, timely systemic antibiotic treatment can lead to an excellent clinical outcome. Close monitoring is essential to prevent potential progression of SRA to a sight-threatening endophthalmitis, which would prompt an urgent shift in the therapeutic approach.
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Antibacterianos , Endoftalmite , Masculino , Humanos , Adulto , Antibacterianos/uso terapêutico , Abscesso/diagnóstico , Abscesso/tratamento farmacológico , Estudos Retrospectivos , Vitrectomia/efeitos adversos , Endoftalmite/diagnóstico , Endoftalmite/tratamento farmacológico , Endoftalmite/etiologiaRESUMO
PURPOSE: to describe multimodal imaging and electrophysiology of multiple evanescent white dot syndrome (MEWDS) concomitant with COVID-19 infection in a patient on BRAF (B Rapidly Accelerated Fibrosarcoma) and MEK (Mitogen-activated Protein Kinase) inhibitors. METHODS: observational case report and literature review. RESULTS: a 37-year-old woman affected by cutaneous melanoma on BRAF and MEK inhibitors developed visual symptoms in the right eye simultaneously with a SARS-COV-2 infection. The right eye visual acuity was hand movement, and clinical examination disclosed vitreous cells, yellow-white retinal spots, and macular yellowish material. Fundus autofluorescence and angiograms were consistent with MEWDS. Angiograms, optical coherence tomography, and optical coherence tomography angiography revealed a macular choroidal neovascular membrane. The infectious and inflammatory work-up was negative. Electrodiagnostic tests revealed cone dysfunction. MEWDS resolved and anti-VEGF treatment allowed partial vision recovery. CONCLUSION: the case illustrates the association of MEWDS and choroidal neovascularization developing after COVID-19 infection in the setting of immunotherapy.
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COVID-19 , Neovascularização de Coroide , Melanoma , Doenças Retinianas , Neoplasias Cutâneas , Síndrome dos Pontos Brancos , Adulto , Feminino , Humanos , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/tratamento farmacológico , Neovascularização de Coroide/etiologia , COVID-19/complicações , Angiofluoresceinografia/métodos , Melanoma/complicações , Melanoma/diagnóstico , Melanoma/tratamento farmacológico , Quinases de Proteína Quinase Ativadas por Mitógeno/uso terapêutico , Proteínas Proto-Oncogênicas B-raf/uso terapêutico , Retina , Doenças Retinianas/diagnóstico , SARS-CoV-2 , Neoplasias Cutâneas/complicações , Tomografia de Coerência Óptica/métodos , Síndrome dos Pontos Brancos/diagnósticoRESUMO
PURPOSE: To review the literature on endogenous subretinal abscess (SRA). METHODS: We searched in the literature for the terms 'subretinal abscess', 'chorio-retinal abscess' and 'choroidal abscess'. RESULTS: A total of 122 patients were identified, of whom 20 patients (22 eyes) had no identified systemic infective foci (group 1) and 102 (120 eyes) had systemic infective foci (group 2). The mean age for group 1 was 44.6 years (range 2 weeks-82 years) and for group 2 was 43.2 years (range 1-89 years). The responsible pathogen was identified in 90% and 95% of cases, respectively. In group 1 the most frequent causative agents were Aspergillus and Nocardia, while in group 2 were Nocardia, Mycobacterium Tuberculosis and Klebsiella. In both groups the most common symptoms were reduced vision (70% and 72.5%, respectively), pain (65% and 29.4%, respectively) and redness (35% and 17.6%, respectively). For group 1 there was no difference between mean initial and final visual acuity (1.7 logMAR, range 0-3 logMAR), while for group 2 mean initial and final visual acuities were 0.8 logMAR and 0.6 logMAR, respectively. Final visual acuity was significantly better in group 2 (p = 0.003). Anterior segment inflammation was seen in 77.3% of cases of group 1 and 66.7% of cases of group 2. In both groups the abscess most common locations were posterior pole (45.4% and 32.5%, respectively) and temporal periphery (13.6% and 13.3%, respectively). Clinical features included hemorrhages (76.5% and 76.3%, respectively) and subretinal fluid (75% in both groups). Diabetes mellitus (20% and 25.5%) and immunosuppressive drug intake (35% and 23.5%) were the main predisposing factors for SRA. Combination of systemic and intravitreal antibiotics/antifungals and vitrectomy was the main therapeutic strategy for both groups. Systemic treatment alone was used mainly for cases of tubercular etiology. The timing of vitrectomy differed between the two groups, as it more commonly followed the use of systemic and intravitreal antibiotics in the forms associated with systemic infective foci. Additional abscess drainage or intralesional antibiotics were performed in 23.8% of cases. CONCLUSION: At present no guideline exists for the treatment of subretinal abscess. Systemic broad-spectrum antibiotic treatment is of primary importance and should be used in all cases unless contraindicated. Combination of systemic and local treatment is the most frequently adopted strategy.
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OBJECTIVES: To determine survival outcomes following enucleation for uveal melanoma. To compare these outcomes with the 8th edition AJCC classification and determine the influence of cytogenetics, using Fluorescent in situ Hybridisation (FISH), on survival. To determine whether failure to gain sufficient sample for cytogenetics using Fine Needle Aspiration Biopsy (FNAB) correlates with survival. SUBJECTS/METHODS: All patients undergoing primary enucleation for uveal melanoma at Moorfields Eye Hospital between 2012 and 2015 were included. Clinical, pathological, cytological and survival data were analysed for all patients. RESULTS: In total, 155 subjects were included. Mean age at enucleation was 65.9 years (SD 14.13). 88 (56.8%) patients died at a mean of three (SD 1.9) years following enucleation. Of these, 52 (33.5%) died from metastatic melanoma, 16 (10.3%) from other causes and 20 (12.9%) causes of death were unknown. Cumulative incidence analysis demonstrated AJCC grade, chromosome 8q gain and monosomy three all predict metastatic mortality. The greatest 5-year mortality rate (62%, SD10.1%) was in those with both chromosome abnormalities and AJCC stage III (Stage IV patients excluded due to low numbers). Largest basal diameter and chromosome status, both independently (p = 0.02 and p < 0.001) predicted metastatic mortality on multivariable regression analysis. Those who had an insufficient sample of cells gained during FNAB (n = 16) had no different prognosis. CONCLUSIONS: This study confirms, in this population, the poor survival of patients enucleated for uveal melanomas. It confirms the prognostic utility of adding AJCC grade to cytogenetic information. It demonstrates that the lack of sample in patients undergoing FNAB is not related to prognosis.
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Melanoma , Neoplasias Uveais , Aberrações Cromossômicas , Enucleação Ocular , Humanos , Melanoma/genética , Melanoma/cirurgia , Prognóstico , Análise de Sobrevida , Neoplasias Uveais/genética , Neoplasias Uveais/patologia , Neoplasias Uveais/cirurgiaRESUMO
Uveal melanoma (UM) is an uncommon but highly aggressive ocular malignancy. Poor overall survival is associated with deleterious BAP1 alterations, which frequently occur with monosomy 3 (LOH3) and a characteristic gene expression profile. Tumor DNA from a cohort of 100 UM patients from Moorfields Biobank (UK) that had undergone enucleation were sequenced for known UM driver genes (BAP1, SF3B1, EIF1AX, GNAQ, and GNA11). Immunohistochemical staining of BAP1 and interphase FISH for chromosomes 3 and 8 was performed, and cellular localization of BAP1 was correlated with BAP1 mutations. Wildtype (WT) BAP1 staining was characterized by nBAP1 expression with <10% cytoplasmic BAP1 (cBAP1). Tumors exhibited heterogeneity with respect to BAP1 staining with different percentages of nBAP1 loss: ≥25% loss of nuclear BAP1 (nBAP1) was superior to chr8q and LOH3 as a prognostic indicator. Of the successfully sequenced UMs, 38% harbored oncogenic mutations in GNA11 and 48% harbored mutations in GNAQ at residues 209 or 183. Of the secondary drivers, 39% of mutations were in BAP1, 11% were in EIF1AX, and 20% were in the SF3B1 R625 hotspot. Most tumors with SF3B1 or EIF1AX mutations retained nuclear BAP1 (nBAP1). The majority of tumor samples with likely pathogenic BAP1 mutations, regardless of mutation class, displayed ≥25% loss of nBAP1. This included all tumors with truncating mutations and 80% of tumors with missense mutations. In addition, 60% of tumors with truncating mutations and 82% of tumors with missense mutations expressed >10% cBAP1.
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BACKGROUND/AIMS: To describe clinical and multimodal imaging features in a cohort of choroidal macrovessels. METHODS: Demographics and multimodal imaging features of 16 eyes of 13 patients with choroidal macrovessels were reviewed. The multimodal imaging included colour fundus photography, fundus autofluorescence (FAF), spectral domain enhanced depth imaging optical coherence tomography (OCT), en face OCT, OCT-angiography (OCT-A), B-scan ultrasonography (US), fluorescein angiography (FFA) and indocyanine green angiography (ICGA). RESULTS: Three patients had bilateral involvement. On colour fundus photography, three patterns were evident (a clearly visible orange-red vessel; a track of pigmentary changes; spots of mild pigmentary changes). Vessel orientation was horizontal (11 eyes), oblique (4 eyes) or vertical (1 eye). In 2 eyes, the vessel was extra-macular. OCT in all cases showed a hyporeflective choroidal area with posterior shadowing and elevation of the overlying retina. Subretinal fluid was present in 4 eyes. FAF (12 eyes) was normal (7 eyes) or showed a hypofluorescent/hyperfluorescent track (4 eyes) or linear hyperautofluorescence (1 eye). En-face OCT (2 eyes) revealed the course of the macrovessel at the level of choroid and choriocapillaris. On OCT-A (2 eyes) the vessel had a reflectivity similar to surrounding vessels but larger diameter. B-scan US (8 eyes) showed a nodular hypoechogenic lesion. FFA (5 eyes) showed early focal hyperfluorescence (4 eyes) not increasing in later phases, or was normal (1 eye). ICGA (6 eyes) showed early hyperfluorescence of the vessel. CONCLUSIONS: Choroidal macrovessels can mimic other entities, leading to underdiagnosis. Appreciating relevant features on different imaging modalities will aid a correct diagnosis.
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Corioide , Tomografia de Coerência Óptica , Corioide/patologia , Técnicas de Diagnóstico Oftalmológico , Angiofluoresceinografia/métodos , Humanos , Imagem Multimodal/métodos , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodosRESUMO
BACKGROUND: Conjunctival melanoma is the second most common conjunctival malignant tumour after squamous cell carcinoma, usually arising from primary acquired melanosis and less commonly from a conjunctival naevus or de novo. We report four cases of conjunctival melanoma masquerading as ocular surface squamous neoplasia. METHODS: Four patients (2 females and 2 males; mean age 60.7 years; range 41-72 years) were referred for suspicious conjunctival lesions. In all cases, the lesions had a perilimbal location, were non-pigmented (cases 1 and 3) or mildly pigmented (cases 2 and 4), had a fleshy (cases 1, 2 and 4) or papillomatous (case 3) appearance and involved the corneal surface. In each case, our main clinical differential diagnosis included conjunctival intraepithelial neoplasia and squamous cell carcinoma. All four patients underwent an excisional biopsy with double freeze-thaw cryotherapy and alcohol keratoepitheliectomy. RESULTS: In all four cases, the histopathological diagnosis was of invasive conjunctival melanoma with extension to the deep surgical margins. Adjuvant therapy consisting of strontium-90 ß radiotherapy (all 4 patients) and topical Mitomicyn C (patient 2) was administered. CONCLUSION: Conjunctival melanoma can clinically resemble ocular surface squamous neoplasia. Clinical impressions therefore need to be confirmed histopathologically.
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Carcinoma de Células Escamosas/patologia , Túnica Conjuntiva/patologia , Neoplasias da Túnica Conjuntiva/patologia , Melanoma/patologia , Neoplasias Cutâneas/diagnóstico , Adulto , Idoso , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Invasividade NeoplásicaRESUMO
PURPOSE: Extramedullary hematopoiesis (EMH) usually occurs in patients with loss of bone marrow hematopoietic function, and in a vast majority of cases, it involves the liver, the spleen, or the lymph nodes. We report EMH in the iris of patients enucleated for choroidal melanoma (CM). METHODS: We report a series of three patients with CM, two treated with primary enucleation and one with secondary enucleation. RESULTS: Histopathology revealed EMH in the iris of all patients. CONCLUSION: EMH of the iris can be associated with CM in the absence of any hematological or systemic disorders. To the best of our knowledge, our work is the first report of this abnormal histopathological finding.
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Background: Currently there is no medical treatment for X-linked retinoschisis (XLRS). In many retinal dystrophies, carbonic anhydrase inhibitors (CAIs) are effectively used to reduce cystoid macular edema. Prospective studies investigating the effect of CAIs in patients with XLRS are needed for the evaluation of their efficacy in this disease. The purpose of our work is to investigate the effects on macular morphology and function of oral CAIs used for the treatment of foveal lesions in patients with XLRS. Methods: Nineteen patients with a clinical diagnosis of XLRS were enrolled and prescribed oral CAIs for six months. We evaluated the therapeutic effect of CAIs with: best-corrected visual acuity (BCVA), spectral-domain optical coherence tomography, microperimetry (MP) and multifocal electroretinography (mfERG). Results: We observed a significant improvement of BCVA (p-value = 0.013), central retinal thickness (p-value = 0.004) and macular sensitivity (p-value<0.001). Moreover, in regards to mfERG responses, an increase of P1 wave amplitude was observed in three of the six rings. Conclusions: Our data supports the efficacy of oral CAIs for the treatment of macular cyst-like lesions in XLRS patients. The recovery of a normal retinal anatomy by means of oral CAIs could be useful to create the optimal circumstances for gene therapy. The increase in macular sensitivity and in P1 wave amplitude confirmed that MP and mfERG provide with an unbiased and more sensitive understanding of how macular function may respond to the use of CAIs. Therefore, we recommend the use of MP and mfERG to assess the effect of therapy in XLRS.
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Acetazolamida/uso terapêutico , Inibidores da Anidrase Carbônica/uso terapêutico , Retinosquise/patologia , Acuidade Visual/efeitos dos fármacos , Adolescente , Adulto , Criança , Eletrorretinografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Retinosquise/tratamento farmacológico , Tomografia de Coerência Óptica , Adulto JovemRESUMO
BACKGROUND: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). MATERIAL AND METHODS: A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH). RESULTS: Macular abnormalities were observed in 126/268 (47.0%) examined eyes. The most frequent abnormality was ERM observed in 51 eyes (19%), followed by CME observed in 42 eyes (15.7%). Moreover, CME was significantly (p < 0.05) associated with younger age (CME: 30.1 ± 11.1 years; without CME: 36.9 ± 14.9 years), whereas VMT and full thickness MH were associated with older age (p < 0.05). Moreover, a significantly (p < 0.05) decreased best-corrected visual acuity was associated with MH compared to eyes without MH. Finally, CME was more frequent in USH1 compared to USH2. CONCLUSION: Our study, for the first time in the literature, showed the distribution of all macular abnormalities assessed by SD-OCT in a large USH cohort, comparing USH1 and USH2 patients. We observed that ocular abnormalities are highly prevalent in USH patients compared to general population, with ERM and CME being the most common alterations. Based on these findings, OCT screening in USH patients is recommended for early detection of macular changes and early treatment.
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Membrana Epirretiniana/epidemiologia , Oftalmopatias/epidemiologia , Edema Macular/epidemiologia , Perfurações Retinianas/epidemiologia , Síndromes de Usher/epidemiologia , Corpo Vítreo/patologia , Adulto , Idoso , Eletrorretinografia , Membrana Epirretiniana/diagnóstico por imagem , Oftalmopatias/diagnóstico por imagem , Feminino , Angiofluoresceinografia , Humanos , Edema Macular/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Prevalência , Perfurações Retinianas/diagnóstico por imagem , Estudos Retrospectivos , Tomografia de Coerência Óptica , Síndromes de Usher/diagnóstico por imagem , Acuidade Visual , Corpo Vítreo/diagnóstico por imagemRESUMO
AIM: To investigate the prevalence of macular abnormalities in a large Caucasian cohort of patients affected by retinitis pigmentosa (RP). METHODS: A retrospective study was performed by reviewing the medical records and optical coherence tomography (OCT) scans in a cohort of 581 RP patients in order to assess the presence of macular abnormalities -that is, cystoid macular oedema (CMO), epiretinal membrane (ERM), vitreo-macular traction syndrome, and macular hole. RESULTS: Macular abnormalities were observed in 524 (45.1%) out of the 1161 examined eyes. The most frequent abnormality was CMO, observed in 237 eyes (20.4%) from 133 patients (22.9%), followed by ERM, assessed in 181 eyes (15.6%) from 115 patients (19.8%). Moreover, vitreo-retinal abnormalities were significantly (p<0.05) associated with older age, cataract surgery, or cataract. CMO appeared to be significantly (p<0.05) associated with female gender, autosomic dominant inheritance pattern, and cataract. CONCLUSIONS: Macular abnormalities are more frequent in RP compared to the general population. For that reason, screening RP patients with OCT is highly recommended to follow-up the patients, evaluate the natural history of disease, and identify those patients who could benefit from current or innovative therapeutic strategies.