RESUMO
Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.
Assuntos
Conexina 26/genética , Ceratite/genética , Sepse/mortalidade , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Ceratite/fisiopatologia , MutaçãoRESUMO
PURPOSE: To evaluate topical tacrolimus ointment for treating Thygeson's superficial punctate keratitis (Thygeson SPK). DESIGN: Retrospective interventional case series. METHODS: setting: Institutional practice. PATIENT POPULATION: The medical records of 14 patients (9 women; age range, 9-65 years) with Thygeson SPK were reviewed retrospectively. Diagnosis was based on the history and clinical examination. INTERVENTION: Patients were treated with tacrolimus 0.03% eye ointment instilled into the lower fornix twice daily for the first 2 weeks, followed by nocturnal application. The clinical signs and symptoms were assessed after 1 month of treatment. The drug was tapered with disease improvement. MAIN OUTCOME MEASURE(S): Treatment efficacy and side effects. RESULTS: All patients had bilateral disease (average duration, 6 years). All patients, except 2 who used the medication irregularly, had improved visual acuity (VA), symptoms, and signs as long as the medication was applied. Before treatment 28.57% of patients had VA between 20/30 and 20/50, with improvement after treatment to 20/25 or 20/20. Attempts to withdraw the medication resulted in recurrent disease, and, therefore, treatment was not curative during the study period. No significant local medication side effects were reported. CONCLUSION: Tacrolimus eye ointment 0.03% was effective for controlling Thygeson SPK for a long period with good patient tolerance and no noticeable local or systemic side effects. During the average 6-year follow-up, treatment was not curative. Randomized studies are difficult to conduct because of the disease rarity.
Assuntos
Imunossupressores/uso terapêutico , Ceratite/tratamento farmacológico , Tacrolimo/uso terapêutico , Administração Tópica , Adolescente , Adulto , Idoso , Criança , Feminino , Humanos , Ceratite/fisiopatologia , Masculino , Pessoa de Meia-Idade , Pomadas , Soluções Oftálmicas , Estudos Retrospectivos , Acuidade Visual/fisiologia , Adulto JovemRESUMO
Keratoconus has been classically defined as a progressive, non-inflammatory condition, which produces a thinning and steepening of the cornea. Its pathophysiological mechanisms have been investigated for a long time. Both genetic and environmental factors have been associated with the disease. Recent studies have shown a significant role of proteolytic enzymes, cytokines, and free radicals; therefore, although keratoconus does not meet all the classic criteria for an inflammatory disease, the lack of inflammation has been questioned. The majority of studies in the tears of patients with keratoconus have found increased levels of interleukin-6 (IL-6), tumor necrosis factor-α(TNF-α), and matrix metalloproteinase (MMP)-9. Eye rubbing, a proven risk factor for keratoconus, has been also shown recently to increase the tear levels of MMP-13, IL-6, and TNF-α. In the tear fluid of patients with ocular rosacea, IL-1α and MMP-9 have been reported to be significantly elevated, and cases of inferior corneal thinning, resembling keratoconus, have been reported. We performed a literature review of published biochemical changes in keratoconus that would support that this could be, at least in part, an inflammatory condition.
Assuntos
Proteínas do Olho/metabolismo , Interleucina-6/metabolismo , Ceratite/fisiopatologia , Ceratocone/fisiopatologia , Metaloproteinase 9 da Matriz/metabolismo , Lágrimas/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Humanos , Ceratite/metabolismo , Ceratocone/metabolismoRESUMO
Mutations in Cx26 gene are found in most cases of human genetic deafness. Some mutations produce syndromic deafness associated with skin disorders, like the Keratitis-Ichthyosis-Deafness syndrome (KID). Because in the human skin connexin 26 (Cx26) is co-expressed with other connexins, like Cx43 and Cx30, and as the KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change the way Cx26 interacts with other co-expressed connexins. Indeed, some Cx26 syndromic mutations showed gap junction dominant negative effect when co-expressed with wild-type connexins, including Cx26 and Cx43. The nature of these interactions and the consequences on hemichannels and gap junction channel (GJC) functions remain unknown. In this study, we demonstrate that syndromic mutations, at the N terminus segment of Cx26, change connexin oligomerization compatibility, allowing aberrant interactions with Cx43. Strikingly, heteromeric oligomer formed by Cx43/Cx26 (syndromic mutants) shows exacerbated hemichannel activity but nonfunctional GJCs; this also occurs for those Cx26 KID mutants that do not show functional homomeric hemichannels. Heterologous expression of these hyperactive heteromeric hemichannels increases cell membrane permeability, favoring ATP release and Ca(2+) overload. The functional paradox produced by oligomerization of Cx43 and Cx26 KID mutants could underlie the severe syndromic phenotype in human skin.
Assuntos
Conexina 43/genética , Conexinas/genética , Surdez/genética , Junções Comunicantes/fisiologia , Ictiose/genética , Canais Iônicos/fisiologia , Ceratite/genética , Mutação/genética , Trifosfato de Adenosina/metabolismo , Cálcio/metabolismo , Permeabilidade da Membrana Celular/fisiologia , Conexina 26 , Conexina 43/fisiologia , Conexinas/fisiologia , Surdez/fisiopatologia , Junções Comunicantes/genética , Genótipo , Células HeLa , Humanos , Ictiose/fisiopatologia , Canais Iônicos/genética , Ceratite/fisiopatologia , FenótipoRESUMO
Ocular involvement in leprosy is estimated to be 70-75%, about 10-50% of leprosy patients suffer from severe ocular symptoms, and blindness occurs in about 5% of patients. The disease leads to many ophthalmologic symptoms and signs in the range of the eyeball itself, as well as of the bulb adnexa, ie, eyebrows, eyelids with eyelashes, and lacrimal drainage system. Especially dangerous are complications of lagophthalmos and corneal hypoanesthesia, neurotrophic or infectious keratitis, and iridocyclitis and cataract formation, which may lead to significant decrease of visual acuity or even blindness. Multidrug treatment rapidly interrupts transmission of Mycobacterium leprae by infectious patients, but even after being completed, it does not guarantee the withholding of ocular complications.
Assuntos
Humanos , Masculino , Feminino , Prognóstico , Infecções Oculares Bacterianas/microbiologia , Infecções Oculares Bacterianas/epidemiologia , Cegueira/etiologia , Cegueira/epidemiologia , Incidência , Medição de Risco , Doenças da Córnea/etiologia , Doenças da Córnea/fisiopatologia , Oftalmopatias/etiologia , Oftalmopatias/microbiologia , Oftalmopatias/epidemiologia , Doenças Palpebrais/etiologia , Doenças Palpebrais/fisiopatologia , Ceratite/etiologia , Ceratite/fisiopatologia , Hanseníase/complicações , Hanseníase/diagnóstico , Mycobacterium leprae/isolamento & purificaçãoRESUMO
OBJECTIVE: To review the clinical features of Cogan syndrome, a rare vasculitis characterized by systemic, ocular, and audiovestibular symptoms. STUDY DESIGN: Clinical records of patients with Cogan syndrome followed at 2 pediatric rheumatology institutions and those from a database search were reviewed. Data included clinical features at onset and during the disease course, treatments, and outcomes. RESULTS: Twenty-three children with Cogan syndrome (15 males; mean age, 11.4 years [range, 4-18 years]) were included in the analysis. Eleven patients (47.8%) exhibited systemic features at disease onset, including fever, arthralgias-arthritis or myalgias, headache, and weight loss. Twenty-one patients (91.3%) had ocular symptoms, due mainly to interstitial keratitis, uveitis, or conjunctivitis/episcleritis. Vestibular symptoms (39.1%) included vertigo, vomiting, and dizziness. Auditory involvement (65.2%) consisted of sensorineural hearing loss, tinnitus, and deafness. Four patients had cardiac valve involvement, and 3 had skin manifestations. After a median 2 years of follow-up, 30.4% of the patients were in clinical remission, but all others had irreversible complications (deafness, 21.7%; sensorineural hearing loss, 13.0%; vestibular dysfunction, 4.3%; ocular complications, 13.0%; cardiac valve damage, 17.4%). CONCLUSION: Audiovestibular and ocular involvement have a major impact on prognosis in children with Cogan syndrome.
Assuntos
Síndrome de Cogan/complicações , Síndrome de Cogan/fisiopatologia , Adolescente , Surdez/fisiopatologia , Feminino , Seguimentos , Humanos , Ceratite/fisiopatologia , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Uveíte/fisiopatologia , Vasculite/fisiopatologia , Vertigem/fisiopatologiaRESUMO
As alterações dos cílios ocorrem freqüentemente em cães e entre as mais observadas encontram-se a triquíase, a distiquíase e o cílio ectópico. Normalmente observa-se epífora, blefarospasmo, hiperemia conjuntival e ceratite ulcerativa. Úlcera de córnea profunda e perfuração ocular também podem ser observadas. O diagnóstico das afecções dos cílios baseia-se principalmente no exame da superfície ocular com uma fonte de luz e magnificação. O tratamento normalmente é cirúrgico. Este trabalho éuma revisão de literatura sobre as afecções dos cílios em cães incluindo etiologia, sinais clínicos, diagnóstico e tratamento destas afecções(AU)
Eyelash alterations frequently are diagnosed in dogs including trichiasis, distichiasis and cilia ectopic. Ophthalmic examination normally revealed ephifora, blepharospasm, conjunctival hyperaemia and keratitis. Corneal ulceration and eye perforation can be observed. Diagnosis is based on the history, clinical signs, and ophthalmic exam. Treatment must eliminate the ocular contact by misdirected cilia that irritate the eyeball. This paper is a study based in literature review, about eyelid alterations, includingetiology, diagnostic and treatment of this affection(AU)
Assuntos
Animais , Cães , Cílios , Cães , Pálpebras , /diagnóstico , Ceratite/diagnóstico , Ceratite/fisiopatologia , Ceratite/veterináriaRESUMO
As alterações dos cílios ocorrem freqüentemente em cães e entre as mais observadas encontram-se a triquíase, a distiquíase e o cílio ectópico. Normalmente observa-se epífora, blefarospasmo, hiperemia conjuntival e ceratite ulcerativa. Úlcera de córnea profunda e perfuração ocular também podem ser observadas. O diagnóstico das afecções dos cílios baseia-se principalmente no exame da superfície ocular com uma fonte de luz e magnificação. O tratamento normalmente é cirúrgico. Este trabalho éuma revisão de literatura sobre as afecções dos cílios em cães incluindo etiologia, sinais clínicos, diagnóstico e tratamento destas afecções
Eyelash alterations frequently are diagnosed in dogs including trichiasis, distichiasis and cilia ectopic. Ophthalmic examination normally revealed ephifora, blepharospasm, conjunctival hyperaemia and keratitis. Corneal ulceration and eye perforation can be observed. Diagnosis is based on the history, clinical signs, and ophthalmic exam. Treatment must eliminate the ocular contact by misdirected cilia that irritate the eyeball. This paper is a study based in literature review, about eyelid alterations, includingetiology, diagnostic and treatment of this affection
Assuntos
Animais , Cães , Ceratite/diagnóstico , Ceratite/fisiopatologia , Ceratite/veterinária , Cães , Cílios , PálpebrasRESUMO
PURPOSE: To study ocular wavefront aberrations after laser in situ keratomileusis (LASIK) in patients who developed diffuse lamellar keratitis (DLK). METHODS: A case-control evaluation of 47 patients with DLK and 30 uneventful LASIK-operated controls. Measurements of visual acuities, cycloplegic refraction, eye's wave aberrations using a LADARWAVE aberrometer (up to eighth order), and corneal topography were obtained after LASIK treatment. All of the surgeries were performed using the Hansatome or the Moria microkeratome and the LadarVision excimer laser system. RESULTS: Mean follow-up interval from the day of the operative procedure to the examination day was 6.26 (DLK group; range, 2-13 months) and 6.23 months (control group; range, 3-9 months). Mean preoperative spherical equivalent was -3.7 D in patients with DLK and -3.7 D in controls. High-order aberration S7+7 (P = 0.015) was statistically different in the DLK group from that in controls. High-order aberrations S3+3 (P = 0.091) and S8+4 (chi = 8.014, P = 0.046) showed a tendency to be different from controls. Loss of best-corrected visual acuity was greater in patients with DLK. CONCLUSIONS: The occurrence of DLK after LASIK surgery may not significantly affect the visual outcome.
Assuntos
Substância Própria/fisiopatologia , Ceratite/fisiopatologia , Refração Ocular/fisiologia , Erros de Refração/fisiopatologia , Acuidade Visual/fisiologia , Adulto , Estudos de Casos e Controles , Topografia da Córnea , Feminino , Seguimentos , Humanos , Ceratite/etiologia , Ceratomileuse Assistida por Excimer Laser In Situ/efeitos adversos , Masculino , Pessoa de Meia-Idade , Miopia/cirurgia , Estudos RetrospectivosRESUMO
Los anillos cornéales habitualmente no son completos, pueden representar desde cambios fisiológicos (anillo limbar ) hasta enfermedades que, si no son diagnosticadas y tratadas oportunamente, pueden terminar con la visión, el ojo e, incluso, con la vida del paciente (anillo limbar, embriotoxon anterior, embriotoxon posterior), de la segunda a cuarta década de la vida (arco juvenil, anillo de Fleisher, anillo de Kayser-Fleisher, queratoconjutivitis alérgica, distrofia corneal anular, desgeneración marginal de Terrien) y seniles (gerotoxon). La distrofia corneal de Schnyder puede presentarse tan precozmente como al año y medio de edad. El anillo por anestésico local, lo hemos visto desde la adolescencia en adelante. Los anillos cornéales intraestromales se implantan, en general, a partir de la tercera o cuarta década de la vida. El anillo de Wessely, el anillo por queratoplastía y el anillo blanco de Cotas pueden presentarse en cualquier etapa de la vida. Respecto a su ubicación pueden ser paracentrales, paralimbares y perilesionales.
Assuntos
Humanos , Substância Própria , Doenças da Córnea/classificação , Doenças da Córnea/fisiopatologia , Epitélio Corneano/patologia , Anestésicos/efeitos adversos , Córnea/anormalidades , Córnea/lesões , Distrofias Hereditárias da Córnea/complicações , Ceratocone , Ceratite/complicações , Ceratite/fisiopatologia , Ceratoplastia Penetrante/efeitos adversosRESUMO
Las queratitis infecciosas poseen una elevada morbilidad, poniendo en riesgo la visión en casos graves. Dada la eficaz protección que brinda el epitelio corneal, para que ocurra una infección se requiere la presencia de factores condicionantes. El principal predisponente para las queratitis infecciosas es el uso de lentes de contacto, seguido por traumatismos y cirugías oculares y luego diversas afecciones locales o generales. Los agentes etiológicos abarcan una enorme diversidad de microorganismos, incluyendo bacterias, micobacterias, virus, hongos y parásitos. Para poder instaurar un tratamiento acotado se necesita un diagnóstico etiológico, lo que requiere una correcta toma de muestra y un exhaustivo análisis microbiológico.
Infectious keratitis cause significant morbidity and, if it is not promptly and appropriately treated, can lead to severe ocular disability. Almost all cases of keratitis are associated to predisposing conditions. In occident, the main risk factor is contact lens wear, but previous ocular surgery or trauma are also important, as well as various ocular surface diseases. An enormous diversity of etiologic agents for infectious keratitis exist, including virus, bacteria, mycobacteria, fungi and parasites. This review provides literature and personal based information about main predisposing factors, etiologic agents and pathophysiology of infectious keratitis, excluding those of viral origin. Focus is made on microbiologic procedures, describing stains and media that should be used, and highlighting their utility. A special mention on particular situations is made, including laboratory diagnosis of Acanthamoeba keratitis, utility of lens cases analysis, keratitis in patients with previous treatment, as well as molecular biology techniques described in ophthalmology.
Assuntos
Animais , Humanos , Ceratite , Ceratite por Acanthamoeba/etiologia , Anti-Infecciosos/uso terapêutico , Lentes de Contato/efeitos adversos , Córnea/lesões , Córnea/microbiologia , Suscetibilidade a Doenças , Infecções Oculares Bacterianas/complicações , Infecções Oculares Bacterianas/tratamento farmacológico , Infecções Oculares Bacterianas/microbiologia , Infecções Oculares Fúngicas/complicações , Infecções Oculares Fúngicas/tratamento farmacológico , Infecções Oculares Fúngicas/microbiologia , Infecções Oculares Parasitárias/complicações , Infecções Oculares Parasitárias/tratamento farmacológico , Infecções Oculares Parasitárias/parasitologia , Ceratite/diagnóstico , Ceratite/etiologia , Ceratite/microbiologia , Ceratite/parasitologia , Ceratite/fisiopatologia , Reação em Cadeia da Polimerase , Complicações Pós-Operatórias , RecidivaRESUMO
Infectious keratitis cause significant morbidity and, if it is not promptly and appropriately treated, can lead to severe ocular disability. Almost all cases of keratitis are associated to predisposing conditions. In occident, the main risk factor is contact lens wear, but previous ocular surgery or trauma are also important, as well as various ocular surface diseases. An enormous diversity of etiologic agents for infectious keratitis exist, including virus, bacteria, mycobacteria, fungi and parasites. This review provides literature and personal based information about main predisposing factors, etiologic agents and pathophysiology of infectious keratitis, excluding those of viral origin. Focus is made on microbiologic procedures, describing stains and media that should be used, and highlighting their utility. A special mention on particular situations is made, including laboratory diagnosis of Acanthamoeba keratitis, utility of lens cases analysis, keratitis in patients with previous treatment, as well as molecular biology techniques described in ophthalmology.
Assuntos
Ceratite , Ceratite por Acanthamoeba/etiologia , Animais , Anti-Infecciosos/uso terapêutico , Lentes de Contato/efeitos adversos , Córnea/microbiologia , Lesões da Córnea , Suscetibilidade a Doenças , Infecções Oculares Bacterianas/complicações , Infecções Oculares Bacterianas/tratamento farmacológico , Infecções Oculares Bacterianas/microbiologia , Infecções Oculares Fúngicas/complicações , Infecções Oculares Fúngicas/tratamento farmacológico , Infecções Oculares Fúngicas/microbiologia , Infecções Oculares Parasitárias/complicações , Infecções Oculares Parasitárias/tratamento farmacológico , Infecções Oculares Parasitárias/parasitologia , Humanos , Ceratite/diagnóstico , Ceratite/etiologia , Ceratite/microbiologia , Ceratite/parasitologia , Ceratite/fisiopatologia , Reação em Cadeia da Polimerase , Complicações Pós-Operatórias , RecidivaRESUMO
A 36-year-old man sustained an indolent keratitis following a minor corneal trauma. Nocardia brasiliensis was isolated from cultures of the corneal scrapings. Fortified topical antibiotics, based on in vitro drug sensitivity testing, were intensively applied for weeks without clinical improvement. The patient underwent therapeutic lamellar keratectomy, which led to a rapid and complete resolution. The site of the keratectomy reepithelialized within 2 days and became a faint subepithelial haze thereafter. The visual acuity improved to 20/20 and there was no evidence of recurrence during the subsequent follow-up. It appears that lamellar keratectomy is a valuable treatment alternative for localized chronic nocardial keratitis.
Assuntos
Córnea/cirurgia , Ceratite/cirurgia , Nocardiose , Adulto , Antibacterianos/uso terapêutico , Córnea/microbiologia , Seguimentos , Humanos , Ceratite/microbiologia , Ceratite/fisiopatologia , Masculino , Nocardia/isolamento & purificação , Nocardiose/tratamento farmacológico , Acuidade VisualRESUMO
A ictiose lamelar é uma doença caracterizada por hiperceratäo da pele, ectrópio palpebral, conjuntivite e ceratite. Apresentamos um caso de úlcera corneana por exposiçäo, com infecçäo bacteriana e micótica secundária, em um paciente portador desta patologia. Säo descritas alternativas para terapêutica ocular bem como para correçäo do ectrópio
Assuntos
Humanos , Masculino , Adulto , Ectrópio/fisiopatologia , Ictiose Lamelar/complicações , Infecções Bacterianas/diagnóstico , Ceratite/fisiopatologia , Úlcera da Córnea/fisiopatologia , Ectrópio/terapia , Ictiose Lamelar/terapiaRESUMO
A síndrome do olho vermelho possui inúmeras causas. O conhecimento do diagnóstico diferencial por parte do médico clínico facilitará a correta terapêutica até a avaliaçäo pelo especialista, principalmente no pronto-socorro. Os autores expöem, de forma simplificada, as principais causas, quadros clínicos e tratamento desta síndrome