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1.
J Fr Ophtalmol ; 46(4): 311-321, 2023 Apr.
Artigo em Francês | MEDLINE | ID: mdl-36804114

RESUMO

INTRODUCTION: The main risk factors for graft failure in penetrating keratoplasty are well known. However, few studies have examined donor characteristics or more precise data on endothelial keratoplasty. MATERIALS AND METHODS: This was a retrospective, single-center study at the Nantes University Hospital, aiming to identify factors predictive of one-year success or failure of eye bank UT-DSAEK endothelial keratoplasty grafts prepared between May 2016 and October 2018. The outcome measure was success or failure at 12months post keratoplasty. RESULTS: One hundred and five grafts were included: 93 successes and 12 failures at 12months. The failure rate was higher in 2016 compared to 2017 and 2018. The characteristics associated with higher failure rate were elderly donor, shorter time between harvesting and grafting, lower endothelial cell density, significant pre-graft endothelial cell loss, re-graft for Fuchs dystrophy, history of corneal transplant. DISCUSSION: Our results are consistent with those in the literature. However, some factors, such as the type of corneal harvesting or pre-graft endothelial cell loss, were not found. UT-DSAEK has demonstrated better results than DSAEK, but still appears to be somewhat inferior to DMEK. CONCLUSION: The main factor for graft failure in our study was an early re-graft within 12months. However, the low incidence of graft failure limits interpretation of these results.


Assuntos
Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Distrofia Endotelial de Fuchs , Humanos , Idoso , Estudos Retrospectivos , Bancos de Olhos , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/efeitos adversos , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/métodos , Distrofia Endotelial de Fuchs/cirurgia , Fatores de Risco , Endotélio Corneano/transplante , Sobrevivência de Enxerto
2.
J Fr Ophtalmol ; 45(8): 872-882, 2022 Oct.
Artigo em Francês | MEDLINE | ID: mdl-35906134

RESUMO

INTRODUCTION: XEN 45® gel stent is an ab interno aqueous humor drainage device indicated for moderate glaucoma refractory to medical management. Its efficacy has been demonstrated in primary open-angle glaucoma (POAG). However, there are few studies on secondary glaucoma, including steroid-induced glaucoma (CG), defined as optic neuropathy induced by using local or systemic corticosteroids without increased flare. METHODS: We conducted a dual-center comparative cohort study between April 2019 and January 2021. 66 operated eyes were included, divided into two groups: POAG (56 eyes) and GC (10 eyes). The primary endpoint was the relative reduction in intraocular pressure (IOP) at three months postoperatively in the GC group. Three outcomes were defined: total success, partial success and failure. RESULTS: The total success rate was 100% in the GC group and 42.6% in the POAG group. Preoperative IOP was 36.1±9.1mmHg and 19.0±7.3mmHg respectively. IOP reduction was 69.1±11.7% in the GC group and 21.8±30.3% in the POAG group. Patients were younger in the GC group (49.3±21.2 versus 71.1±8.4 years), and preoperative conjunctival preparation was longer in this group (12 versus 5 weeks). The needling rate was 17.9% in the POAG group and 10% in the GC group. CONCLUSION: The XEN 45® gel stent is effective in the treatment of steroid-induced glaucoma. Further studies will be required to identify predictive factors for success and to establish criteria for good candidacy.


Assuntos
Implantes para Drenagem de Glaucoma , Glaucoma de Ângulo Aberto , Glaucoma , Facoemulsificação , Corticosteroides , Estudos de Coortes , Glaucoma/cirurgia , Implantes para Drenagem de Glaucoma/efeitos adversos , Glaucoma de Ângulo Aberto/complicações , Glaucoma de Ângulo Aberto/cirurgia , Humanos , Pressão Intraocular , Estudos Retrospectivos , Stents/efeitos adversos , Esteroides , Resultado do Tratamento
3.
J Fr Ophtalmol ; 45(6): 640-646, 2022 Jun.
Artigo em Francês | MEDLINE | ID: mdl-35599055

RESUMO

PURPOSE: To study the results of femtosecond laser-assisted arcuate keratotomy in extreme astigmatism after penetrating keratoplasty, using a Ziemer LDVZ6 with a modified Lindstrom nomogram. DESIGN: Case series, retrospective study. METHOD: Consecutive eyes that underwent femtosecond laser-assisted arcuate keratotomy between 2014 and 2019 in the Nantes University Hospital for extreme astigmatism after penetrating keratoplasty were included. RESULTS: Twenty-four eyes of 24 patients were included. The mean age was 53.3±12.2 years at the time of the arcuate keratotomies. Indications for penetrating keratoplasty were keratoconus in 66.7% of cases, herpes keratitis in 16.7% of cases, and corneal dystrophy in 16.7% of cases. The mean initial best corrected visual acuity was 0.36±0.23 logMar versus 0.26±0.15 logMar at the 3-month postoperative visit (P=0.04). At the postoperative visit, 54% (13/24) of eyes had improved best corrected visual acuity (BCVA), and 25% had no change in BCVA, with a mean cylinder reduction of 3.3 diopters. The mean preoperative topographic cylinder was 9.5±3.2 diopters versus 6.2±2.8 diopters postoperatively (absolute values; P<0.001), i.e. a 34.7% reduction in astigmatism. At the 3-month postoperative visit, 20.8% of eyes (5/24) had topographic astigmatism less than 3 diopters with a mean astigmatism reduction of 97±55% (range: 17; 201) using the Alpins method. No suppurative keratitis or endophthalmitis were observed. Twenty-one percent of patients underwent a second arcuate keratotomy after 3 to 6 months due to insufficient refractive results. CONCLUSION: Development of new nomograms designed for extreme astigmatism after penetrating keratoplasty would enhance the precision and reproducibility of femtosecond laser-assisted arcuate keratotomy in these cases.


Assuntos
Astigmatismo , Adulto , Idoso , Astigmatismo/diagnóstico , Astigmatismo/etiologia , Astigmatismo/cirurgia , Topografia da Córnea , Humanos , Ceratoplastia Penetrante/efeitos adversos , Lasers , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Refração Ocular , Reprodutibilidade dos Testes , Estudos Retrospectivos , Acuidade Visual
5.
J Fr Ophtalmol ; 44(2): 176-188, 2021 Feb.
Artigo em Francês | MEDLINE | ID: mdl-33388186

RESUMO

INTRODUCTION: UT-DSAEK is a recent technique developed in order to obtain grafts thinner than a conventional DSAEK (less than 100 microns). The goal of this study was to evaluate the anatomic and clinical results over a period of one year for a retrospective series of UT-DSAEK procedures at the University Hospital of Nantes, using pre-cut grafts provided by a tissue bank, and to compare results with other existing techniques: DSAEK and DMEK. METHODS: In this retrospective, single-center study, all patients requiring an endothelial graft over a one-year period were included. The criteria studied were visual acuity, graft thickness, pachymetry and specular microscopy, recorded on the preoperative visit, D7, M1, M3, M6 and M12. RESULTS: Seventy-nine grafts were performed on 75 patients. The mean age was 72 years. Between the 7th day and the end of the first year, the graft thickness in the visual axis decreased from 75±29 to 60±21 microns rapidly over the first three months. The pachymetry decreased from 706±95 microns preoperatively to 561±54 microns with the same kinetics. The cell density of the graft decreased from 2604±13 cell/mm2 prior to the procedure to 1551±124 cell/mm2 (40% loss) at one year. The preoperative visual acuity was 1.16 logMAR, rapidly improving to 0.65 logMAR at the first month and 0.40 logMAR at one year. CONCLUSION: This study provides a fair amount of data on the progression of UT-DSAEK grafts: a decrease in graft thickness over the first three months, corresponding to an increase in visual acuity over this same period, with a good endothelial survival rate. This technique opens new avenues for the treatment of endothelial diseases, being complementary to DMEK in terms of surgical indications.


Assuntos
Doenças da Córnea , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Idoso , Doenças da Córnea/cirurgia , Endotélio Corneano , Seguimentos , Sobrevivência de Enxerto , Humanos , Estudos Retrospectivos , Bancos de Tecidos
7.
J Fr Ophtalmol ; 42(2): 118-126, 2019 Feb.
Artigo em Francês | MEDLINE | ID: mdl-30679126

RESUMO

PURPOSE: To define the prognostic factors for success and to evaluate the predictability of intracorneal ring segments (ICRS) in the treatment of keratoconus. METHODS: In this retrospective study conducted at the University Hospital of Nantes, Keraring ICRS were implanted in 75 eyes of 65 patients with keratoconus. Best spectacle corrected visual acuity (BSCVA), manifest refraction and corneal topography were analysed. To define prognostic factors, we compared the results of 2 groups: "IMP" (gain of at least 2 lines of BSCVA) and "ROS" (the others). We evaluated the predictability of the nomogram with a mathematical model proposed by Pena-Garcia et al. (IOVS 2012). RESULTS: At 3 months, BSCVA improved from 0.3 to 0.2 logMAR (P<0.05). A total of 61 % of the patients experienced a gain of at least 1 line of BSCVA. Spherical equivalent decreased by 2.32 diopters (D), cylinder decreased by 2.47 D, and maximal keratometry by 2.62 D (P<0.05 for each compared with preoperative values). A total of 90 % of the patients whose BSCVA did not improve achieved a significant refractive improvement. A preoperative BSCVA>0.3 logMAR is a prognostic factor for gain of at least 2 lines of BSCVA (P=1.6E-3). Predictability was fair: only 43 % had a±1D difference from the spherical equivalent predicted by the nomogram. There was no statistically significative difference between gain or loss of BSCVA predicted by the mathematical model and the postoperative results. CONCLUSIONS: ICRS are visually and refractively effective. Predictability could be improved by using mathematical models and knowledge of prognostic factors for success, allowing for better patient selection.


Assuntos
Ceratocone/diagnóstico , Ceratocone/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Implantação de Prótese/estatística & dados numéricos , Refração Ocular/fisiologia , Acuidade Visual/fisiologia , Adulto , Substância Própria/cirurgia , Olho Artificial , Feminino , Humanos , Ceratocone/epidemiologia , Ceratocone/reabilitação , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Oftalmológicos/instrumentação , Procedimentos Cirúrgicos Oftalmológicos/métodos , Procedimentos Cirúrgicos Oftalmológicos/estatística & dados numéricos , Prognóstico , Estudos Retrospectivos , Resultado do Tratamento , Testes Visuais
8.
J Fr Ophtalmol ; 40(7): 571-579, 2017 Sep.
Artigo em Francês | MEDLINE | ID: mdl-28844326

RESUMO

The management of severe keratoconus requires corneal transplantation, for which the gold standard is deep anterior lamellar keratoplasty (DALK), preserving the healthy Descemet's membrane and endothelium. The safety and reproducibility of corneal cuts have been improved by the evolution of femtosecond lasers in refractive surgery, and femtosecond laser in DALK would seem to provide the same advantages over the manual method. In our retrospective study, we compare functional and anatomical results of femtosecond assisted DALK versus manual trephination DALK in patients with keratoconus in stage 4 of the Krumeich classification. It is a retrospective study including all patients with stage 4 keratoconus who underwent femtosecond laser assisted DALK between November 2012 and November 2015 in Nantes hospital. We compared those patients to a group of patients who underwent manual DALK in the same period, paired by age and maximal keratometry. We assessed visual acuity, pachymetry, endothelial cell density (specular microscopy), and keratometry before surgery and at 4, 8 and 12 months of follow-up. Laser settings and intraoperative complications were recorded. Nineteen patients underwent surgery by femtosecond assisted DALK, 6 women and 12 men with average age 30.2±10.8 years at transplantation. They were paired with a group of 17 patients who underwent manual DALK in order to compare results. Before surgery, mean visual acuity in the femtosecond group was 0.90 logMAR versus 0.89 logMAR in the manual group, showing no statistically significant difference (P=0.96). Both groups were similar in terms of preoperative age, mean keratometry, pachymetry and endothelial cell density. Average visual acuity post-surgery was 0.27, 0.26; and 0.14 logMAR for femtosecond DALK versus 0.27, 0.17 et 0.25 for manual DALK at 4, 8 and 12 months follow-up, respectively showing no statistically significant difference. After surgery, at 4, 8 and 12 months, mean pachymetry was similar in both groups, and average endothelial cell density was 2390 cells/mm2 in femtoDALK versus 2531 cells/mm2 in manual DALK at 12 months of follow-up, showing no statistically significant difference (P=0.5726). The rate of Descemet's membrane microperforations during the procedure was low and similar for both groups. Our study allows for a 12 month follow-up, with assessment of visual recovery, anatomical result and endothelial safety in a sample of 19 femtosecond laser assisted DALK with no statistical significant difference versus the manual trephination group. Femtosecond laser allows for increased reproducibility of the DALK procedure without reducing adverse effects during surgery. Femtosecond laser seems to improve the technique of the DALK procedure, and future developments could improve the reproducibility of DALK even further. A medical economics study would be necessary to determine the cost effectiveness of femtosecond laser assisted DALK.


Assuntos
Ceratocone/cirurgia , Ceratoplastia Penetrante/métodos , Terapia a Laser , Adulto , Progressão da Doença , Feminino , Humanos , Ceratocone/patologia , Terapia a Laser/métodos , Lasers , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
9.
J Fr Ophtalmol ; 40(6): e193-e200, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28601345

RESUMO

The management of severe keratoconus requires corneal transplantation, for which the gold standard is deep anterior lamellar keratoplasty (DALK), preserving the healthy Descemet's membrane and endothelium. The safety and reproducibility of corneal cuts have been improved by the evolution of femtosecond lasers in refractive surgery, and femtosecond laser in DALK would seem to provide the same advantages over the manual method. In our retrospective study, we compare functional and anatomical results of femtosecond-assisted DALK versus manual trephination DALK in patients with keratoconus in stage 4 of the Krumeich classification. It is a retrospective study including all patients with stage 4 keratoconus who underwent femtosecond laser-assisted DALK between November 2012 and November 2015 in Nantes university medical center. We compared those patients to a group of patients who underwent manual DALK in the same period, paired by age and maximal keratometry. We assessed visual acuity, pachymetry, endothelial cell density (specular microscopy), and keratometry before surgery and at 4, 8 and 12 months of follow-up. Laser settings and intraoperative complications were recorded. Nineteen patients underwent surgery by femtosecond-assisted DALK, 6 women and 12 men with average age 30.2±10.8 years at transplantation. They were paired with a group of 17 patients who underwent manual DALK in order to compare results. Before surgery, mean visual acuity in the femtosecond group was 0.90 logMAR versus 0.89 logMAR in the manual group, showing no statistically significant difference (P=0.96). Both groups were similar in terms of preoperative age, mean keratometry, pachymetry and endothelial cell density. Average visual acuity post-surgery was 0.27; 0.26; and 0.14 logMAR for femtosecond DALK versus 0.27; 0.17 et 0.25 for manual DALK at 4, 8 and 12 months follow-up respectively, showing no statistically significant difference. After surgery, at 4, 8 and 12 months, mean pachymetry was similar in both groups, and average endothelial cell density was 2390 cells/mm2 for femto DALK versus 2531 cells/mm2 for manual DALK at 12 months of follow-up, showing no statistically significant difference (P=0.5726). The rate of Descemet's membrane microperforations during the procedure was low and similar for both groups. Our study allows for a 12-month follow-up, with assessment of visual recovery, anatomic result and endothelial safety in a series of 19 femtosecond laser-assisted DALK with no statistical significant difference versus the manual trephination group. Femtosecond laser allows for increased reproducibility of the DALK procedure without reducing adverse effects during surgery. Femtosecond laser seems to improve the technique of the DALK procedure, and future developments could improve the reproducibility of DALK even further. A medical economics study would be necessary to determine the cost-effectiveness of femtosecond laser-assisted DALK.


Assuntos
Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/métodos , Ceratocone/cirurgia , Ceratoplastia Penetrante/métodos , Terapia a Laser/métodos , Adulto , Córnea/cirurgia , Transplante de Córnea/efeitos adversos , Transplante de Córnea/métodos , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/efeitos adversos , Progressão da Doença , Feminino , Seguimentos , Humanos , Complicações Intraoperatórias/etiologia , Complicações Intraoperatórias/patologia , Ceratocone/patologia , Ceratoplastia Penetrante/efeitos adversos , Terapia a Laser/efeitos adversos , Lasers , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Acuidade Visual , Adulto Jovem
10.
J Fr Ophtalmol ; 39(2): 178-86, 2016 Feb.
Artigo em Francês | MEDLINE | ID: mdl-26826744

RESUMO

INTRODUCTION: The purpose of this study is to describe a technique for thin endothelial lamellar keratoplasty and to present the results for endothelial transplant performed at the University Hospital of Nantes. MATERIALS AND METHODS: This paper is a retrospective, single-center descriptive study conducted at the University Hospital of Nantes from September 2010 to May 2014, at first for anatomical or analgesic indications (group 1) and then extended to visual indications (group 2). Patients were followed for 12 months. The preparation of the endothelial graft includes an excimer-laser ablation of the residual stromal bed after lamellar keratectomy by manual deep anterior approach. RESULTS: Seventy surgeries were analyzed. The etiologies were mainly Fuchs Dystrophy, secondary endothelial dystrophy and post-penetrating keratoplasty endothelial failure. Fifty-three patients were integrated in group 1 and seventeen patients in group 2. In group 1, the mean VA at 12 months was 0.70 ± 0.30 Log MAR (0.2 decimal equivalent). In group 2, the mean VA at 12 months was 0.28 ± 0.12 Log MAR (0.5 decimal equivalent). Pachymetry decreased from 740 ± 125.1 µm preoperatively to 613.4 ± 73.4 µm at 12 months. The average central thickness of the graft was 84.1 ± 28.9 µm at 1 month and 80.2 ± 29.4 µm at 12 months. CONCLUSION: The advantage of this new surgical technique is that it is a rapid and repeatable method allowing thin grafts with satisfactory functionality and easy handling. Its performance independent of the scheduled surgery, allows for predictable organization in the operating room.


Assuntos
Doenças da Córnea/cirurgia , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/métodos , Endotélio Corneano/transplante , Lasers de Excimer/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Córnea/patologia , Córnea/cirurgia , Doenças da Córnea/etiologia , Feminino , Distrofia Endotelial de Fuchs/cirurgia , Sobrevivência de Enxerto , Humanos , Ceratoplastia Penetrante/efeitos adversos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Acuidade Visual
11.
J Fr Ophtalmol ; 37(9): 707-16, 2014 Nov.
Artigo em Francês | MEDLINE | ID: mdl-25199573

RESUMO

INTRODUCTION: Intraocular pressure and visual outcomes in primary pediatric glaucoma treated with trabeculotomy. MATERIALS ET METHODS: All children undergoing trabeculotomy as first-line surgical treatment between January 2002 and January 2012 were included in a retrospective monocentric study. We report initial clinical features, surgical complications, ophthalmological outcome and clinical progression. RESULTS: Twenty-nine eyes of 16 children met the inclusion criteria and were treated with trabeculotomy as first-line treatment (mean age: 6 months). Median follow-up was 7 years. No major perioperative complications occurred, but minor complications were observed in 11 eyes. Mean pre-operative and initial post-operative intraocular pressures were 25.4 and 9.1mmHg respectively, thus a decrease of 16.3 points (63%). Overall surgical success rate was 89% at first follow-up, 72% at one year and 64% on last follow-up. A mean intraocular pressure of 15mmHg on no medications was achieved for two-thirds of eyes. After 7 years of follow-up, over 50% of eyes did not require a 2nd surgery. Visual acuity was at least 20/30 for 62% of eyes (83% for eyes requiring only trabeculotomy). DISCUSSION AND CONCLUSION: Trabeculotomy as first-line treatment of primary juvenile glaucoma is a safe and effective surgery in about two-thirds of cases. It allows pressure control and satisfactory visual outcome in the majority of children.


Assuntos
Glaucoma/congênito , Glaucoma/cirurgia , Trabeculectomia , Criança , Pré-Escolar , Seguimentos , Humanos , Lactente , Pressão Intraocular , Complicações Pós-Operatórias , Estudos Retrospectivos , Acuidade Visual
12.
J Fr Ophtalmol ; 36(10): 809-14, 2013 Dec.
Artigo em Francês | MEDLINE | ID: mdl-24144523

RESUMO

INTRODUCTION: Observational study of the diagnoses and the treatment modalities used for orbital inflammatory pathologies discussed in multidisciplinary meetings (MDM) in Nantes University Medical Center over 4 years. MATERIAL AND METHOD: A multidisciplinary meeting to discuss eyelid and orbital pathologies (excluding cancer) has been held in Nantes three times per year since October 2008. This retrospective study focuses on the cases of orbital inflammatory pathologies discussed at this meeting from October 2008 to October 2012 (49 cases included). RESULTS: Twenty-eight (57%) patients were diagnosed with orbital inflammation, 16 (33%) cases with isolated myositis and 5 (10%) with dacryoadenitis. In the diagnostic work-up, orbital biopsy was performed in 64% of orbital inflammation cases, 38% of myositis cases and 80% of dacryoadenitis cases. These specimens led to the diagnosis of 9 lymphomas, 2 histiocytoses and 1 metastasis. The internal medicine work-up allowed for the diagnosis of 3 granulomatoses with polyangiitis, one patient with sarcoidosis, and one patient with tuberculosis. Despite work-up, there remained 14 (29%) idiopathic orbital inflammatory syndromes (IOIS). DISCUSSION: The MDM of orbital pathology allows for the collective approach to the most difficult cases of management and is not concerned with stable orbitopathies or those presenting no diagnostic dilemma. Despite a multidisciplinary, rational etiologic work-up (frequently involving a biopsy), we find a higher rate of IOIS than reported in the literature. CONCLUSION: A multidisciplinary approach appears to be useful in improving management of orbital disease.


Assuntos
Processos Grupais , Inflamação/diagnóstico , Comunicação Interdisciplinar , Doenças Orbitárias/diagnóstico , Equipe de Assistência ao Paciente , Centros Médicos Acadêmicos , Biópsia , Diagnóstico Diferencial , Feminino , França , Humanos , Inflamação/patologia , Inflamação/terapia , Masculino , Doenças Orbitárias/patologia , Doenças Orbitárias/terapia , Valor Preditivo dos Testes , Estudos Retrospectivos
13.
J Fr Ophtalmol ; 36(2): 95-102, 2013 Feb.
Artigo em Francês | MEDLINE | ID: mdl-22981524

RESUMO

PURPOSE: To study the demographic evolution of acute primary angle closure. MATERIALS AND METHODS: Retrospective study of patients with acute primary angle closure treated between 2001-2003 and 2008-2010. For each period, a comparison was made of demographic data (number of cases, age at diagnosis, sex), clinical data (biometry, presence or absence of iris plateau or cataract) and therapeutic data (iridotomy, phacoemulsification, trabeculectomy). RESULTS: Fifty-two cases of acute primary angle closure were treated in the University Hospital of Nantes, France: 34 eyes in 2001-2003 and 18 in 2008-2010, representing a decrease of 47% in acute primary angle closure cases in 7years. The incidence of acute primary angle closure attacks significantly decreased from 0.0596% in 2001-2003 to 0.0224% in 2008-2010. Acute angle closure attacks secondary to cataract decreased significantly from 82% in 2001-2003 to 50% in 2008-2010. In cataractous cases with ocular hypertension persisting after peripheral iridotomy, cataract extraction was performed. Early phacoemulsification less than 10days was significantly more common in 2008-2010 than in 2001-2003 (40% versus 10%). CONCLUSION: This study confirms the recent decrease in acute primary angle closure attacks. The consistent increase in cataract surgery in the elderly has probably played a preventive role, since the highest decrease in acute primary angle closure cases was observed among the 70-80-year-old population. Recently, acute primary angle closure cases are less often due to cataract than to primary pupillary block or iris plateau. The prevention of acute primary angle closure by gonioscopic monitoring in patients at risk is indispensable.


Assuntos
Extração de Catarata/estatística & dados numéricos , Glaucoma de Ângulo Fechado/epidemiologia , Baixa Visão/epidemiologia , Baixa Visão/cirurgia , Doença Aguda , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Catarata/complicações , Catarata/epidemiologia , Extração de Catarata/tendências , Demografia , Feminino , Glaucoma de Ângulo Fechado/complicações , Glaucoma de Ângulo Fechado/etiologia , Glaucoma de Ângulo Fechado/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Baixa Visão/etiologia
14.
Neurology ; 73(14): 1111-9, 2009 Oct 06.
Artigo em Inglês | MEDLINE | ID: mdl-19805727

RESUMO

OBJECTIVE: Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently identified ZFYVE26 as the gene responsible for one of the clinical and genetic entities, SPG15. Our aim was to describe its clinical and mutational spectra. METHODS: We analyzed all exons of SPG15/ZFYVE26 gene by direct sequencing in a series of 60 non-SPG11 HSP subjects with associated mental or MRI abnormalities, including 30 isolated cases. The clinical data were collected through the SPATAX network. RESULTS: We identified 13 novel truncating mutations in ZFYVE26, 12 of which segregated at the homozygous or compound heterozygous states in 8 new SPG15 families while 1 was found at the heterozygous state in a single family. Two of 3 splice site mutations were validated on mRNA of 2 patients. The SPG15 phenotype in 11 affected individuals was characterized by early onset HSP, severe progression of the disease, and mental impairment dominated by cognitive decline. Thin corpus callosum and white matter hyperintensities were MRI hallmarks of the disease in this series. CONCLUSIONS: The mutations are truncating, private, and distributed along the entire coding sequence of ZFYVE26, which complicates the analysis of this gene in clinical practice. In our series of patients with hereditary spastic paraplegia-thin corpus callosum, the largest analyzed so far, SPG15 was the second most frequent form (11.5%) after SPG11. Both forms share similar clinical and imaging presentations with very few distinctions, which are, however, insufficient to infer the molecular diagnosis when faced with a single patient.


Assuntos
Proteínas de Transporte/genética , Corpo Caloso/patologia , Mutação , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/patologia , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Corpo Caloso/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia por Emissão de Pósitrons/métodos , Índice de Gravidade de Doença , Paraplegia Espástica Hereditária/diagnóstico por imagem , Tomografia Computadorizada de Emissão de Fóton Único/métodos
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