ABSTRACT
RESUMO A ceratopigmentação teve seu primeiro registro pelo filósofo Galeno há muitos séculos como uma estratégia utilizada para o tratamento estético de pacientes com leucomas. As córneas com leucoma são patológicas e, muitas vezes, intolerantes a lentes de contato cosméticas ou próteses oculares, sendo comum a queixa de desconforto excessivo, proporcionado pela superfície corneana irregular. Assim, a ceratopigmentação é uma alternativa para a melhora estética de pacientes com opacidades corneanas. Descrevemos o caso de um paciente do sexo masculino, 39 anos, que apresentou despigmentação precoce em caso de ceratopigmentação associado a quadro de ceratite herpética necrotizante. O paciente foi submetido ao tratamento com aciclovir 2g ao dia e doxiciclina 200mg ao dia, evoluindo com melhora do quadro clínico, apesar da má adesão medicamentosa.
ABSTRACT Keratopigmentation was first recorded many centuries ago by the philosopher Galeno, as a strategy used for the aesthetic treatment of patients with leukomas. Corneas with leucoma are pathological and often intolerant of cosmetic contact lenses or ocular prostheses, with complaints of excessive discomfort provided by the irregular corneal surface being common. Therefore, keratopigmentation is an alternative for the aesthetic improvement of patients with corneal opacities. We describe the case of a 39-year old male patient, who presented early depigmentation in a case of keratopigmentation associated with necrotizing herpetic keratitis. The patient was treated with Acyclovir 2g/day and Doxycycline 200mg/day, evolving with clinical improvement, despite poor medication adherence.
Subject(s)
Humans , Male , Adult , Tattooing/methods , Corneal Neovascularization/etiology , Cornea/surgery , Corneal Opacity/surgery , Coloring Agents/adverse effects , Acyclovir/administration & dosage , Eye Injuries/complications , Cosmetic Techniques , Patient Satisfaction , Keratitis, Herpetic/drug therapy , Doxycycline/administration & dosage , Corneal Opacity/etiology , EstheticsABSTRACT
ABSTRACT A 27-year-old healthy man with a history of bilateral photorefractive keratectomy (PRK) enhancement after femtosecond laser in situ keratomileusis (LASIK) presented with decreased uncorrected distance visual acuity (UDVA) of 20/125 in the right eye (OD) and 20/300 in the left eye (OS) six months after PRK. Examination revealed bilateral dense subepithelial opacities. Both eyes (OU) were treated with superficial keratectomy combined with phototherapeutic keratectomy (PTK) and adjunctive application of mitomycin C 0.02%. At three months follow up UDVA was 20/30 OD and 20/25 OS. Superficial keratectomy combined with PTK seems to be a safe and efficient technique for treatment of dense subepithelial scar formation following PRK enhancement after LASIK.
RESUMO Um homem saudável de 27 anos de idade com história de aprimoramento com ceratectomia fotorrefrativa (PRK) bilateral, após Ceratomileuse Assistida por Excimer Laser In Situ (LASIK) com laser de femtossegundos, apresentou diminuição da acuidade visual à distância não corrigida (AVNC) de 20/125 no olho direito (OD) e 20/300 no olho esquerdo (OE) seis meses após PRK. O exame revelou opacidades subepiteliais densas bilaterais. Ambos os olhos (AO) foram tratados com queratectomia superficial combinada com ceratectomia fototerapêutica (PTK) e aplicação adjuvante de mitomicina C a 0,02%. Aos três meses de acompanhamento, o AVNC foi de 20/30 OD e 20/25 OE. A ceratectomia superficial combinada com PTK parece ser uma técnica segura e eficiente para o tratamento da formação densa de cicatrizes subepiteliais após o aprimoramento com PRK pós-LASIK.
Subject(s)
Humans , Male , Adult , Fibrosis/therapy , Photorefractive Keratectomy/adverse effects , Wound Healing , Fibrosis/etiology , Visual Acuity , Mitomycin/administration & dosage , Photorefractive Keratectomy/methods , Corneal Opacity/diagnosis , Corneal Opacity/etiology , Corneal Topography , Keratomileusis, Laser In Situ , Debridement , Corneal Surgery, Laser , Slit Lamp Microscopy , Myopia/surgeryABSTRACT
Resumo Neste relato, descrevemos um caso de Distrofia corneana de Schnyder que apresentou o desfecho de seu diagnóstico baseado em achados característicos na microscopia confocal, ferramenta que se aponta em destaque no universo oftalmológico.
Abstract Schnyder's corneal dystrophy (SCD) is a rare corneal condition characterized by cholesterol and phospholipids deposition in the stroma and Bowman's layer. We present a case report of a patient who had a progressive corneal stromal haze in both eyes since he was 15 years old. Etiological diagnosis of SCD was well established by In Vivo Confocal Microscopy (IVCM).
Subject(s)
Humans , Male , Middle Aged , Corneal Dystrophies, Hereditary/diagnostic imaging , Microscopy, Confocal/methods , Corneal Dystrophies, Hereditary/complications , Corneal Opacity/etiology , Corneal Stroma/pathologyABSTRACT
ABSTRACT The following report describes a case of apical leucoma syndrome after hyperopic photorefractive keratectomy following hyperopic laser in situ keratomileusis and the subsequent treatment of this complication with focal phototherapeutic keratectomy. The patient underwent focal transepithelial phototherapeutic keratectomy of 70 mm ablation and 1.5 mm diameter after pupil and ablation offset correction. After 1 year, significant improvement in vision was observed and only slight residual opacity remained on biomicroscopy and optical coherence tomography. Focal phototherapeutic keratectomy was effective and safe for the treatment of this complication.
RESUMO O relato a seguir descreve um caso da síndrome do Leucoma Apical após cirurgia ceratorrefrativa hipermetrópica depois de Laser hiperópico in situ keratomileusis, e o subsequente tratamento desta complicação com ceratectomia fototerapêutica focal. O paciente foi submetido à ceratectomia fototerapêutica focal transepitelial com ablação de 70 mm e diâmetro de 1,5 mm, após correção de offset pupilar. Depois de um ano, foi observada uma melhora significativa da acuidade visual permanecendo apenas leve opacidade residual na biomicroscopia e tomografia de coerência óptica. A ceratectomia fototerapêutica focal foi efetiva e segura para o tratamento desta complicação.
Subject(s)
Humans , Female , Middle Aged , Photorefractive Keratectomy/methods , Corneal Opacity/surgery , Corneal Opacity/etiology , Keratomileusis, Laser In Situ/adverse effects , Syndrome , Visual Acuity , Hyperopia/surgeryABSTRACT
ABSTRACT We report the case of a patient who received conjunctival tattooing for cosmetic purposes with associated complications. A 28-year-old male experienced severe ocular pain after undergoing conjunctival tattooing. Slit-lamp examination revealed blue deposits over the conjunctiva in association with intense conjunctival edema and a 4+ anterior chamber cellular reaction. The patient underwent clinical treatments to control ocular inflammation. Two months after the injury, the patient was still in follow-up to ensure that any further complications were managed and documented. This unusual case of conjunctival tattooing resulted in conjunctival edema and anterior uveitis. Because of the increasing popularity of eyeball tattooing, the potentially severe complications of this procedure may become more common.
RESUMO Relatamos um caso de um paciente que realizou tatuagem conjuntival para fins cosméticos com complicações associadas. Um homem de 28 anos de idade apresentou dor ocular importante após tatuagem conjuntival. O exame da lâmpada de fenda revelou depósitos azuis sobre a conjuntiva, associados a um intenso edema conjuntival e uma reação de câmara anterior de 4+ de células. O paciente foi submetido a tratamentos clínicos para controlar a inflamação ocular. Dois meses após o ocorrido, o paciente ainda estava em acompanhamento para garantir que quaisquer outras complicações fossem gerenciadas e documentadas. Um caso incomum de tatuagem conjuntival resultou em edema conjuntival e uveíte anterior. Devido à crescente popularidade da tatuagem no globo ocular, complicações potencialmente graves deste procedimento podem se tornar mais comuns.
Subject(s)
Humans , Male , Adult , Tattooing/adverse effects , Glaucoma/etiology , Conjunctiva/surgery , Corneal Opacity/etiology , Tattooing/methods , Glaucoma/surgery , Corneal Opacity/surgery , Intraocular PressureABSTRACT
RESUMO O surgimento de uma membrana fibrótica opacificada na córnea transplantada é pouco descrito nas literaturas nacional e mundial. O objetivo é relatar o caso de um paciente com leucoma total de olho esquerdo que foi submetido à ceratoplastia penetrante levando a formação de dupla câmara anterior devido ao surgimento de uma membrana fibrótica cicatricial. Paciente do sexo masculino, 54 anos, com leucoma total secundário a ceratite herpética, diabético há 20 anos, em uso de insulina, com retinopatia diabética não proliferativa. Realizou-se cirurgia de membranectomia com complicações pós-operatória.
ABSTRACT The emergence of opaque fibrotic membrane in transplanted cornea is little described in national and world literature. The goal is to report the case of a patient with leucoma total of left eye that was submitted to the penetrating keratoplasty leading to formation of double anterior chamber due to the emergence of a fibrotic scar membrane. Male patient, 54 years, with total herpetic keratitis secondary leucoma, diabetic for 20 years, using insulin, with non-proliferative diabetic retinopathy. Held membranectomia surgery with postoperative complications.
Subject(s)
Humans , Male , Middle Aged , Fibrosis/etiology , Keratoplasty, Penetrating/adverse effects , Cicatrix/metabolism , Anterior Chamber/pathology , Postoperative Complications , Fibrosis/surgery , Fibrosis/diagnosis , Cicatrix/surgery , Keratitis, Herpetic/complications , Corneal Opacity/surgery , Corneal Opacity/etiology , Graft Rejection , Graft Survival , Membranes/surgery , Anterior Chamber/surgeryABSTRACT
RESUMO A mitomicina C teve seu uso profilático e terapêutico estabelecido, ao longo dos anos, para diminuir o haze depois da ablação superficial. A mitomicina C é segura e eficaz como uma terapia adjuvante aplicada após um procedimento primário de ceratectomia fotorrefrativa ou após um retratamento com ceratectomia fotorrefrativa após o laser in situ keratomileusis LASIK. A mitomicina age modulando a cicatrização após a cirurgia. Constitui-se num potente inibidor de mitose, bloqueia a ativação e a profliferação dos fibroblastos e a diferenciação dos miofibroblastos. Embora existam muitos estudos apontando a segurança da mitomicina nas doses ultilizadas, ainda persistem dúvidas quanto à segurança, a longo prazo, do uso da mitomicina. Quando as córneas são examinadas com microscópios confocal, após depleção inicial dos ceratócitos, a densidade celular parece retornar ao normal seis a 12 meses após o uso de mitomicina C . A maioria dos estudos clínicos não encontrou diferença significativa entre a densidade endotelial celular préoperatória e pós-operatória quando a mitomicina C 0.02% foi aplicada durante a cirurgia com um tempo de exposição de 2 minutos ou menos. Em aproximadamente 14 anos, a mitomicina C mostrou-se eficaz na prevenção e tratamento do haze corneano.
ABSTRACT Over the years, mitomycin C has been used by refractive surgeons to prophylactically decrease haze after surface ablation procedures and therapeutically in the treatment of preexisting haze. Development of mitomycin C treatments has had a significant role in the revival of surface ablation techniques. We reviewed the literature regarding mechanism of action of mitomycin C, its role in modulating wound healing after refractive surgery, and its safety and efficacy as adjuvant therapy applied after primary photorefractive keratectomy surgery or after photorefractive keratectomy re-treatment after laser in situ keratomileusis and other corneal surgeries and disorders. The drug is a potent mitotic inhibitor that effectively blocks keratocyte activation, proliferation, and myofibroblast differentiation. Many studies have suggested that mitomycin C is safe and effective in doses used by anterior surface surgeons, although there continue to be concerns regarding long-term safety. After initial depletion of anterior keratocytes, keratocyte density seems to return to normal 6 to12 months after the use of mitomycin C when corneas are examined with the confocal microscope. Most clinical studies found no difference between preoperative and postoperative corneal endothelial cell densities when mitomycin C 0.02% was applied during refractive surgery,with exposure time of 2 minutes or less. After approximately 14 years of use, mitomycin C has been found to be effective when used for prevention and treatment of corneal haze.
Subject(s)
Humans , Wound Healing/drug effects , Mitomycin/pharmacology , Photorefractive Keratectomy , Corneal Opacity/prevention & control , Keratomileusis, Laser In Situ , Myofibroblasts/drug effects , Cicatrix/enzymology , Mitomycin/administration & dosage , Chemotherapy, Adjuvant , Apoptosis/drug effects , Cornea/drug effects , Corneal Opacity/etiology , Corneal Stroma/drug effects , Cell Proliferation/drug effects , Enzyme ActivationABSTRACT
RESUMO A síndrome de Rothmund (RTS) é uma rara genodermatose, de herança autossômica recessiva. Sua incidência é desconhecida, com aproximadamente 300 casos descritos na literatura. A síndrome é determinada por eritema facial (poiquilodermia), seu marco diagnóstico, além de alterações esqueléticas, alopecia, catarata juvenil e predisposição a osteossarcoma. Neste relato, descrevemos uma paciente com esta síndrome, que foi referida ao serviço de oftalmologia por baixa visão e hiperemia ocular.
ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. This is a report describing a patient diagnosed with RTS referred to us because of low vision and red eyes.
Subject(s)
Humans , Female , Rothmund-Thomson Syndrome/complications , Rothmund-Thomson Syndrome/diagnosis , Rothmund-Thomson Syndrome/pathology , Visual Acuity , Entropion/surgery , Entropion/etiology , Rothmund-Thomson Syndrome/genetics , Corneal Transplantation , Limbus Corneae , Corneal Opacity/diagnosis , Corneal Opacity/etiology , Corneal Opacity/pathology , Genetic Predisposition to Disease , HyperemiaABSTRACT
No abstract available.
Subject(s)
Adult , Female , Humans , Male , Young Adult , Corneal Opacity/etiology , Monitoring, Intraoperative/methods , Photorefractive Keratectomy/adverse effects , Postoperative Complications/etiologyABSTRACT
To standardize the corneal haze model in the resection depth and size for efficient corneal haze development, air assisted lamellar keratectomy was performed. The ex vivo porcine corneas were categorized into four groups depending on the trephined depth: 250 microm (G1), 375 microm (G2), 500 microm (G3) and 750 microm (G4). The stroma was equally ablated at the five measurement sites in all groups. Significant differences were observed between the trephined corneal depths for resection and ablated corneal thickness in G1 (p < 0.001). No significant differences were observed between the trephined corneal depth for resection and the ablated corneal thickness in G2, G3, and G4. The resection percentage was similar in all groups after microscopic imaging of corneal sections. Air assisted lamellar keratectomy (AK) and conventional keratectomy (CK) method were applied to six beagles, after which development of corneal haze was evaluated weekly until postoperative day 28. The occurrence of corneal haze in the AK group was significantly higher than that in the CK group beginning 14 days after surgery. Alpha-smooth muscle actin expression was significantly higher in the AK group (p < 0.001) than the CK group. Air assisted lamellar keratectomy was used to achieve the desired corneal thickness after resection and produce sufficient corneal haze.
Subject(s)
Animals , Dogs , Humans , Cornea/surgery , Corneal Opacity/etiology , Disease Models, Animal , Ophthalmologic Surgical Procedures/methods , Sus scrofa , Wound HealingSubject(s)
Adult , Female , Humans , Corneal Opacity/etiology , Fabry Disease/complications , Corneal Opacity , Microscopy, AcousticABSTRACT
OBJETIVO: O objetivo deste estudo foi determinar a prevalência e gravidade das complicações oculares em pacientes com mucopolissacaridoses (MPS). MÉTODOS: Vinte e nove pacientes com diagnóstico de mucopolissacaridoses foram estudados. Foram avaliados: idade, sexo, acuidade visual, presença de estrabismo, erros refrativos, exame de fundo de olho, pressão intraocular, espessura corneal central e ultrassonografia ocular. RESULTADOS: Foram avaliados três pacientes com MPS I (12 por cento), 11 pacientes com MPS II (37,9 por cento), um paciente com MPS III (3,4 por cento) e 14 pacientes com MPS VI (48,3 por cento). A média de idade foi de 9,5 anos (DP 5,5). Observou-se hipermetropia em 88,5 por cento (23 pacientes) e astigmatismo em 51,7 por cento (15 pacientes). A média da acuidade visual corrigida foi de 0,45 logMAR (DP 0,68). A média do equivalente esférico foi +3,57 D (DP 2,46) e da pressão intraocular foi 17 mmHg (DP 3,9). Os achados mais comuns foram: espessamento palpebral 24,1 por cento (7 pacientes); opacidade da córnea, 55,2 por cento dos casos (16 pacientes); atrofia do nervo óptico, 23,1 por cento (6 pacientes); dobras radiais na retina 24 por cento (7 pacientes). O fundo de olho não foi examinado em 3 pacientes devido à opacidade de córnea. A média da espessura do complexo esclera-retina-coroide (ERC) medida por ultrassom foi de 1,78 mm (DP 0,51). CONCLUSÃO: Os achados oftalmológicos mais proeminentes foram espessamento palpebral, diminuição da acuidade visual, hipermetropia moderada, opacidade da córnea, dobras radiais na retina perimacular e atrofia do nervo óptico.
PURPOSE: The objective of this study was to determine the prevalence and severity of ocular complications in patients with mucopolysaccharidosis (MPS). METHODS: Twenty-nine patients with diagnosis of mucopolysaccharidosis were studied. Age, gender, visual acuity, presence of strabismus, refractive error, fundus examination, intraocular pressure, central corneal thickness and ocular echography were assessed for each individual. RESULTS: There were three patients with MPS I (12 percent), eleven patients with MPS II (37.9 percent), one patient with MPS III (3.4 percent) and fourteen patients with MPS VI (48.3 percent). Mean age was 9.5 years (ranged from 1.2 to 20 years, DP 5.5). Refraction was available in 26 patients, from which 88.5 percent (23 patients) were hyperopic, and 53.8 percent (14 patients) presented astigmatism. Best corrected visual acuity was available in 18 patients and the mean was 0.45 logMAR (DP 0.68). The mean spherical equivalent was +3.57 D (SD 2.46) and intraocular pressure was 17 mmHg (SD 3.9). The most common findings were: eyelid thickening in 24.1 percent (7 patients); corneal opacity in 55.2 percent of cases (16 patients); optic nerve atrophy in 23.1 percent (6 patients); and radial folds in the retina in 24 percent (7 patients). The fundus was examined in 26 out of 29 patients because corneal opacity avoided the exam in 3 of them. The average thickness of the complex sclera-retina-choroid (SRC was 1.78 mm (SD 0.51). CONCLUSION: The most prominent ophthalmologic findings were eyelid thickening, decreased visual acuity, high hyperopia, corneal opacity, perimacular radial folds in the retina and optic nerve atrophy.
Subject(s)
Child , Female , Humans , Male , Corneal Opacity/etiology , Mucopolysaccharidoses/complications , Optic Atrophy/etiology , Refractive Errors/etiology , Corneal Opacity/diagnosis , Intraocular Pressure/physiology , Optic Atrophy/diagnosis , Prevalence , Refractive Errors/diagnosis , Severity of Illness Index , Visual Acuity/physiologyABSTRACT
OBJETIVO: Avaliar os resultados a longo prazo da aplicação profilática da Mitomicina C para inibir a formação de opacidade corneana em ceratectomia fotorrefrativa (PRK) em pacientes com miopia alta. MÉTODOS: Estudo retrospectivo, descritivo, longitudinal que compreendeu 59 olhos (30 pacientes) que realizaram cirurgia de PRK com aplicação de Mitomicina C entre janeiro e março de 2008. Os critérios de inclusão dos pacientes foram: equivalente esférico maior do que -4,00 dioptrias, espessura corneana maior do que 480 µm, ausência de cirurgia prévia, de trauma ocular e de enfermidades oculares e sistêmicas. Após realização do PRK, os olhos foram tratados com micro esponja embebida com MMC 0.02 por cento por 20 segundos sobre a área da ablação. Foram realizadas medidas de refração, acuidade visual sem correção, acuidade visual corrigida e observação da opacidade corneana através da lâmpada de fenda nos dois anos de seguimento. RESULTADOS: No pós-operatório, não foram observados efeitos adversos imediatos ou tardios da MMC. Não foi observada opacidade corneana em nenhum olho após dois anos do ato cirúrgico. Em um olho foi observada opacidade grau 2,0 do terceiro até o sexto mês de seguimento. Nos demais olhos, não houve opacidade maior do que 1,0. A acuidade visual não corrigida foi de 20/40 ou melhor em 96,91 por cento dos olhos e de 20/20 em 81,35 por cento dos olhos. A acuidade visual corrigida manteve-se em 57 olhos e houve ganho de uma linha em 2 olhos. CONCLUSÃO: O uso profilático da Mitomicina C a 0,02 por cento após PRK pareceu mostrar-se eficaz na redução de formação de opacidade ocular.
PURPOSE: to evaluate the long-term results of the prophylactic use of Mitomycin C in inhibiting haze formation after photorefractive keratectomy (PRK) for high myopia. METHODS: This retrospective, descriptive and longitudinal study comprised 59 eyes (30 patients). The inclusion criteria were a spherical equivalent correction over -4,00 diopters, corneal thickness greater than 480 µm, no prior surgery, ocular trauma and ocular and systemic diseases. After PRK, the eyes were treated with a single intraoperative dose of MMC 0.02 percent applied topically with a soaked micro sponge placed over the ablated area for two minutes. Refraction, uncorrected visual acuity, best corrected visual acuity and slit lamp evidence of corneal opacity (haze) were performed on the two years of follow up. RESULTS: No toxic or side effects, either immediate or delayed, were encountered postoperatively. Haze was not observed in any eye after two years of surgery. In one eye haze rate 2,00 was observed from the third until the sixth month of follow-up. In the other eyes, no haze rate higher than 1.0 was observed. The uncorrected visual acuity was 20/40 or better in 96.91 percent of the eyes and 20/20 in 81.35 percent of the eyes. Best corrected visual acuity was unchanged in 57 eyes and improved one line in 2 eyes. CONCLUSION: The prophylactic use of mitomycin C 0.02 percent after PRK suggested effectiveness in reducing haze formation.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Mitomycin/administration & dosage , Mitomycin/therapeutic use , Photorefractive Keratectomy/adverse effects , Cornea/drug effects , Corneal Opacity/etiology , Corneal Opacity/prevention & control , Visual Acuity , Retrospective Studies , Administration, Topical , Treatment Outcome , Cornea/surgery , Corneal Diseases/etiology , Corneal Diseases/prevention & control , Lasers, Excimer , Fibroblasts/drug effects , Antibiotics, Antineoplastic/administration & dosage , Antibiotics, Antineoplastic/therapeutic use , Myopia/surgeryABSTRACT
A 62-year-old female visited our clinic with progressively decreased vision in both eyes beginning 12 years prior. Idiopathic corneal opacity in all layers of the cornea was found in both eyes. One year later, we performed penetrating keratoplasty on the undiagnosed right eye. During post-surgical follow-up, corneal edema and stromal opacity recurred, and penetrating keratoplasty was performed two more times. The patient's total serum protein level, which had previously been normal, was elevated prior to the final surgery. She was diagnosed with monoclonal gammopathy of undetermined significance. We made a final diagnosis of monoclonal gammopathy-associated crystalline keratopathy after corneal biopsy. Monoclonal gammopathy-associated crystalline keratopathy is difficult to diagnose and may lead to severe visual loss. A systemic work-up, including serologic tests like serum protein or cholesterol levels, is needed in patients with unexplainable corneal opacity.
Subject(s)
Female , Humans , Middle Aged , Corneal Edema/etiology , Corneal Neovascularization/etiology , Corneal Opacity/etiology , Crystallins/metabolism , Keratoplasty, Penetrating , Microscopy, Electron , Monoclonal Gammopathy of Undetermined Significance/complications , Reoperation , Visual AcuityABSTRACT
La enfermedad de Fabry es un desorden lisosomal de transmisión ligada al cromosoma X debida al déficit de la enzima alfa galactosidasa A, con acumulación multisistémica de globotriaosilceramida y compromiso neurológico, gastrointestinal, cardíaco, renal, dermatológico y oftalmológico. Estudios recientes indican que las mujeres heterocigotas desarrollan síntomas similares a los de los varones, pero no existen en nuestro país datos comparativos respecto de la frecuencia relativa de manifestaciones clínicas, edad de inicio y gravedad entre hombres y mujeres con enfermedad de Fabry. Identificamos 59 pacientes adultos sintomáticos con enfermedad de Fabry: 32 varones (edad media: 34.8 años) y 27 mujeres (edad media: 46.6 años). El diagnóstico se hizo por estudios enzimáticos en los hombres y genéticos en las mujeres. Se evaluó la frecuencia y la gravedad de las manifestaciones de la enfermedad. Las manifestaciones más frecuentes fueron acroparestesias, angioqueratomas, hipohidrosis y córnea verticilada; las tres primeras fueron estadísticamente más frecuentes en hombres, en los cuales la gravedad de estos síntomas fue significativamente mayor. Proteinuria e hipertrofia ventricular izquierda fueron hallazgos frecuentes tanto en hombres como en mujeres. Hubo una latencia prolongada entre la edad del inicio y la del diagnóstico de 14 años para varones y 30 para mujeres. La enfermedad de Fabry es una enfermedad subdiagnosticada y potencialmente letal que afecta a ambos sexos. La existencia de reemplazo enzimático obliga a identificar precozmente los síntomas y signos sugestivos de la enfermedad para realizar un diagnóstico y tratamiento precoces.
Fabry disease is an X- linked lysosomal disorder due to deficient activity of the enzyme alpha galactosidase A which leads to multisystemic storage of globotriaosylceramide with neurologic, gastrointestinal, cardiac, renal, skin and ophtalmological involvement. Recent studies indicate that heterozygous females develop symptoms similar to the males, but comparative information regarding the relative frequency of clinical manifestations, age of onset and severity of the disorder between males and females with Fabry disease is not available in Argentina. We identified 59 symptomatic adult patients with Fabry disease: 32 males (mean age 34.8 years) and 27 females (mean age 46.6 years). Diagnosis was made by enzymatic analysis in males and by genetic studies in females. We compared the frequency and severity of the clinical manifestations in females and males with this disease. The most frequent manifestations were: acroparesthesias, angiokeratomas, hypohydrosis (all them were significantly more frequent in males than in females, as well as the severity of symptoms), and cornea verticillata. Proteinuria and ventricular hypertrophy were frequent findings both in males and females. There was a delayed latency between age at onset and age at diagnosis in our group: 14 years for men and 30 years for females. Fabry disease is an underdiagnosed and potentially fatal disorder that affects both sexes. The availability of enzyme replacement therapy should stimulate the identification of signs and symptoms suggestive of this disorder, to allow earlier diagnosis and treatment.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Young Adult , Fabry Disease/diagnosis , alpha-Galactosidase/genetics , Argentina , Severity of Illness Index , Sex Factors , Fabry Disease/complications , Hypertrophy, Left Ventricular/diagnosis , alpha-Galactosidase/blood , Corneal Opacity/diagnosis , Corneal Opacity/etiology , Heterozygote , Angiokeratoma/diagnosis , Angiokeratoma/etiology , MutationABSTRACT
Trachoma remains the leading cause of preventable corneal blindness in developing countries. The disease is contracted in early childhood by repeated infection of the ocular surface by C. traehomatis. Initial clinical manifestation is a follicular conjunctivitis which if not treated on timely basis, may lead to conjunctival and eyelid scarring that may eventually result in corneal scarring and loss of vision. Over the past two decades, a remarkable reduction in the prevalence of active trachoma has occurred due to the World Health Organization's [WHOs] program GET 2020 for the elimination of trachoma with adoption of the SAFE strategy incorporating Surgery, Antibiotic treatment, Facial cleanliness and Environmental hygiene. However, patients who already had infection at young age may present with adnexal-related complications of trachomatous scarring that may cause corneal scarring and visual loss. These patients may present with evidence of trichiasis/entropion as well as eyelid retraction. Lacrimal complications may include nasolacrimal-duct obstruction, dacryocystitis and canaliculitis requiring intervention. In addition to the increased risk for corneal scarring, trichiasis/entropion may further increase the risks for microbial keratitis in patients who may have unrecognized dacryocystitis and canaliculitis. Female patients may have more trachomtous-related complications and may present at an early age. Available evidence indicates that SAFE strategy may be effective and on the right track towards achieving GET 2020 goal for the eradication of trachoma
Subject(s)
Humans , Trachoma/epidemiology , Trachoma/complications , Chlamydia trachomatis , Corneal Opacity/etiology , Blindness/etiology , Developing Countries , World Health OrganizationABSTRACT
OBJETIVO: Relatar a evolução de 9 olhos (8 pacientes) submetidos ao implante da ceratoprótese de Dohlman-Doane tipo 1, com tempo médio de seguimento de 11,2 meses (2 a 25 meses). MÉTODOS: Trabalho retrospectivo, não comparativo, intervencionista de uma série de casos. Quanto à doença de base, em 4 olhos foram queimadura alcalina, 3 falência de múltiplos transplantes de córnea, 1 síndrome de Stevens-Johnson e 1 queimadura térmica. A acuidade visual pré-operatória era de movimento de mãos ou pior em todos os olhos. Três olhos apresentavam glaucoma pré-operatório, sendo submetidos a implante valvulado de Ahmed. RESULTADOS: A acuidade visual com correção pós-operatória foi melhor ou igual a 20/100 em 88,9 por cento dos olhos e melhor ou igual a 20/40 em 44,4 por cento dos olhos. Como intercorrências pós-operatórias, 3 olhos apresentaram opacidade de cápsula posterior tratada com capsulotomia com YAG laser; 3 olhos membrana retroprotética de fibrina tratada com injeção tPA ou corticoterapia; 2 olhos glaucoma tratado com medicação; 1 olho "melting" corneano tratado com a troca do botão e 1 olho endoftalmite fúngica tratada com transplante a quente, vitrectomia anterior, explante da ceratoprótese e da LIO e tratamento antifúngico. CONCLUSÃO: A ceratoprótese de Dohlman-Doane é uma boa opção para casos graves de cegueira corneana, em que o transplante penetrante de córnea não apresenta bom prognóstico. Sua principal vantagem é não necessitar imunossupressão sistêmica. Casos de queimadura alcalina e de alta chance de rejeição apresentaram os melhores resultados.
PURPOSE: To describe 9 eyes in 8 patients who received Dohlman-Doane type 1 keratoprosthesis (KPro) with a mean follow-up of 11.2 months (2 to 25 months). METHODS: A retrospective, non-comparative interventional case series. Previous corneal disease was alcaline burn in 4 eyes, multiple graft failure in 3 eyes, Stevens-Johnson syndrome in 1 eye and thermal injury in 1 eye. Best corrected visual acuity (BCVA) was hand motions or worse in all patients. Glaucoma was present preoperatively in 3 eyes and received Ahmed valve implantation. RESULTS: 88,9 percent eyes achieved BCVA of better than or equal to 20/100, and 44,4 percent better than or equal to 20/40. In the postoperative period, 3 eyes developed posterior capsule opacity treated with YAG laser capsulotomy; 3 retroprosthetic membrane treated with tPA injection or steroids; 2 glaucoma in clinical treatment; 1 corneal melting, treated with donor cornea bottom exchange; and 1 fungic endophthalmitis, treated with corneal transplant, anterior vitrectomy, KPro and intraocular lens explantation, and specific intravitreal and endovenous treatment. CONCLUSION: Dohlman-Doane K-Pro seems to be a good option for cases of corneal blindness with poor prognosis for traditional penetrating keratoplasty. Its main advantage is not requesting systemic immunossuppression. Best results were achieved in non-immune diseases.
Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Corneal Diseases/surgery , Corneal Transplantation/methods , Blindness/surgery , Corneal Opacity/etiology , Corneal Transplantation/adverse effects , Eye Burns/surgery , Follow-Up Studies , Glaucoma/etiology , Graft Rejection/surgery , Postoperative Period , Preoperative Care , Retrospective Studies , Visual Acuity/physiology , Young AdultABSTRACT
A 40-day-old male child was admitted with complaints of not opening eyes from 2-3 days after birth. A diagnosis of X3-B keratomalacia was made. The treatment was done with vitamin-A to which the patient had responded. The mother of the baby had a history of night blindness throughout the pregnancy for which she was also treated. Keratomalacia secondary to vitamin-A deficiency is rare in neonates, although in children it is reported form developing countries.