ABSTRACT
PURPOSE: To report a peculiar case of adult-onset buphthalmos. METHODS: Review of the medical record of a 24-year-old patient with Down syndrome who developed buphthalmos in the left eye after corneal transplantation for keratoconus. RESULTS: In the next 2 years after surgery, the operated eye evolved with chronic anterior uveitis that led to progressive peripheral synechiae, oscillating intraocular pressure, cataract, graft failure, and buphthalmos. CONCLUSIONS: The finding of buphthalmos of adult-onset in Down syndrome raises important issues concerning the classification of this eye condition and the responsibility for detecting and monitoring eyes with glaucoma in individuals with chromosome 21 trisomy.
Subject(s)
Corneal Transplantation/adverse effects , Down Syndrome/complications , Hydrophthalmos/etiology , Chronic Disease , Female , Graft Rejection/etiology , Humans , Hydrophthalmos/physiopathology , Intraocular Pressure/physiology , Keratoconus/surgery , Postoperative Complications , Uveitis, Anterior/etiology , Young AdultABSTRACT
RESUMO A Síndrome de Klippel-Trenaunay (SKT) é uma doença congênita rara, com maior prevalência no sexo masculino e incidência de 2-5:100.000. Apresenta-se, na forma clássica, como a tríade de manchas vinho porto, hipertrofia de membros e malformação venosa e/ou linfática. O diagnóstico é essencialmente clínico e devido à complexidade da síndrome, de natureza progressiva e ampla variedade de apresentações clínicas, os pacientes devem ser tratados de forma individualizada por uma equipe multidisciplinar. Alterações oftalmológicas associadas à SKT incluem anormalidades vasculares da órbita, íris, retina, coroide e nervo óptico. Relato de caso: Paciente de 23 anos, sexo feminino, portadora de SKT, em acompanhamento no Centro da Visão - Universidade Federal do Paraná, com queixa de diminuição da acuidade visual em olho direito. A paciente apresentava manchas vinho porto em dimidio direito e hipertrofia de membros ipsilateral. Foi diagnosticado glaucoma e realizados exames complementares oftalmológicos a fim de avaliar o grau de comprometimento dos campos visuais e o fundo de olho. A visão com a melhor correção foi de 20/100 OD e foi de 20/20 OE. À fundoscopia, constatou-se aumento da escavação do nervo óptico à direita - 0,75 x 0,90 mm. Optou-se por tratamento clínico com Cloridrato de Dorzolamida, Latanoprosta, Brimonidina e Timolol, com bons resultados a longo prazo - a tonometria de aplanação mostrou 19 mmHg OD e 15 mmHg OE, apesar da dificuldade na estabilização da doença. Conclusão: Relatos demonstram que os resultados dos tratamentos clínico e cirúrgico do glaucoma em associação à SKT são insatisfatórios quando comparados a outros tipos de glaucoma - o controle clínico não é possível em cerca de 1/3 dos pacientes, e o manejo cirúrgico tem alto índice de complicações. São necessários estudos mais expressivos que estabeleçam a correlação entre glaucoma e SKT e embasem o tratamento de escolha.
ABSTRACT The Klippel-Trenaunay Syndrome (KTS) is a rare congenital disease, which the prevalence is higher in males, and its incidence of 25:100,000. It is presented in its classic form as the triad of port-wine stains, enlarged limbs and venous and / or lymphatic malformation. The diagnosis is essentially clinical and due to the complexity of the syndrome, the progressive characteristic and the wide variety of clinical presentations, a multidisciplinary team should treat patients individually. The ocular changes associated with KTS include vascular, orbit, iris, retina, choroid and optic nerve abnormalities. Case report: A 23-year-old female patient, carrier KTS, being followed at Vision Center - Federal University of Paraná, complaining of decreased visual acuity in the right eye. The patient had port-wine stains in right hemibody and hypertrophy of ipsilateral members. Glaucoma was diagnosed and eye exams were performed to assess the degree of impairment of visual fields and fundus. The best correction was checked at 20/100 OD and 20/20 OS. At fundoscopy, there was increased excavation of the optic nerve right - 0.75 x 0.90 mm. Clinical treatment was chosen with Dorzolamide Hydrochloride, Latanoprost, Brimonidine and Timolol, presenting good long-term results - the tonometry showed 19 mmHg OD and 15 mmHg OS, despite the difficulty in stabilizing the disease. Conclusion: Reports have shown that the results of clinical and surgical treatments of glaucoma in association with KTS are unsatisfactory compared to other types of glaucoma - clinical control is not possible in about 1/ 3 of patients and the surgical management has a high rate of complications. Significant studies are needed to establish the correlation between glaucoma and KTS, and base the treatment of choice.
Subject(s)
Humans , Female , Adult , Glaucoma/etiology , Hydrophthalmos/etiology , Klippel-Trenaunay-Weber Syndrome/complications , Sulfonamides/therapeutic use , Timolol/therapeutic use , Tonometry, Ocular , Capillaries/abnormalities , Glaucoma/diagnosis , Glaucoma/drug therapy , Hydrophthalmos/diagnosis , Hydrophthalmos/drug therapy , Klippel-Trenaunay-Weber Syndrome/genetics , Tomography, Optical Coherence , Visual Field Tests , Brimonidine Tartrate/therapeutic use , Slit Lamp Microscopy , Latanoprost/therapeutic use , Intraocular PressureABSTRACT
To report a case of extensive globe enlargement due to secondary glaucoma in a young adult suffering from ocular surface disorders related to hypohidrotic ectodermal dysplasia. To the best of our knowledge, this is the first report of buphthalmos in the adulthood.
Relato de caso do aumento extenso do globo ocular decorrente de glaucoma secundário e disfunção de superfície ocular em um paciente adulto jovem portador de displasia ectodérmica anidrótica. Primeiro relato de caso de buftalmo em adulto.
Subject(s)
Adolescent , Humans , Male , Ectodermal Dysplasia 1, Anhidrotic/complications , Glaucoma/complications , Hydrophthalmos/etiologyABSTRACT
To report a case of extensive globe enlargement due to secondary glaucoma in a young adult suffering from ocular surface disorders related to hypohidrotic ectodermal dysplasia. To the best of our knowledge, this is the first report of buphthalmos in the adulthood.
Subject(s)
Ectodermal Dysplasia 1, Anhidrotic/complications , Glaucoma/complications , Hydrophthalmos/etiology , Adolescent , Humans , MaleABSTRACT
El xantogranuloma juvenil es un tumor benigno secundario a una proliferación de células histiocíticas que se presenta en lactantes y niños; su aparición en adultos es ocasional. Se inicia en forma repentina por la aparición de lesiones cutáneas papulonodulares rojizo anaranjadas, redondeadas, de 2 a 6 mm, que se localizan preferentemente en cara y parte superior del cuerpo. Se resuelve en forma espontánea en un período variable. Las lesiones suelen estar limitadas a la piel pero pueden tener otra localización. La ocular es una de las que puede presentar severas complicaciones que incluyen glaucoma, hipema, proptosis y amaurosis como en la paciente de 4 meses que presentamos.
Juvenile xantogranuloma (JXG) is a benign tumor due to the prolifera-tion of histiocytic cells, which appears in infants and children and occasionanlly in adults. It has a sudden onset which consists of erythematous or yellowish, papulonodular, slightly raised lesions, with a diameter varying from 2 to 6 mm. It is usually located on the face and upper part of the body, and has a spontaneous remission in a variable period of time. Although lesions are usually limited to the skin, other organs may be involved. Ocular involvement may lead to severe complications including glaucoma, hyphema, proptosis and blindness, as the four months-old patient we report.
Subject(s)
Humans , Female , Infant , Xanthogranuloma, Juvenile/classification , Xanthogranuloma, Juvenile/complications , Xanthogranuloma, Juvenile/diagnosis , Xanthogranuloma, Juvenile/pathology , Skin Diseases/pathology , Glaucoma , Hydrophthalmos/etiology , Hyphema/etiologyABSTRACT
Los estafilomas son ectasias corneales caracterizados por un gran alargamiento del segmento anterior. Generalmente dicha lesión corneal se encuentra con metaplasia queratinizada. Este proceso es originado por anomalías en el desarrollo del segmento anterior, se sugiere una falla en la migración de tejido mesenquimático. El pronóstico para la función visual es malo el tratamiento sólo mejora la cuestión estética