RESUMEN
Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers leads progressively to lens dislocation. It is most often associated with systemic diseases such as Marfan syndrome, Weill-Marchesani syndrome or homocystinuria. Isolated non syndromic ectopia lentis (IEL) is reported in families with autosomal inheritance, with dominant forms being more common than recessive. LTBP2 truncating mutations have been described as a cause of autosomal recessive ectopia lentis as a primary or secondary feature in patients showing ocular (eg, glaucoma) or extraocular manifestations (eg, Marfanoid habitus). Recently, ADAMTSL4 has been shown to be responsible for isolated autosomal recessive ectopia lentis in an inbred family. Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, thus confirming the involvement of this gene in this condition and underlining the major role of ADAMTS proteases in zonular fibers homeostasis.
Asunto(s)
Codón sin Sentido , Desplazamiento del Cristalino/genética , Genes Recesivos , Trombospondinas/genética , Proteínas ADAMTS , Afaquia Poscatarata/etiología , Afaquia Poscatarata/terapia , Preescolar , Consanguinidad , Análisis Mutacional de ADN , Anteojos , Lateralidad Funcional , Humanos , Cristalino/cirugía , Masculino , Repeticiones de Microsatélite , Linaje , Reacción en Cadena de la Polimerasa , ARN Mensajero/análisis , Agudeza VisualRESUMEN
INTRODUCTION: Combined hamartoma of the retina and retinal pigment epithelium is a rare condition, characterized by a proliferation of the retinal pigmentary epithelium and retinal gliosis leading to a disorganization of the retina and papilla. This study aimed to demonstrate the advantages of early diagnosis and regular monitoring. OBSERVATIONS: We report a series of four children followed between 2001 and 2004 with combined hamartoma of the retina and retinal pigment epithelium, with age of diagnosis ranging from 3 months to 8 years. The main reason for consultation was reduction of vision. The clinical examination objectified the existence of a slightly grayish peripapillary formation with tortuous retinal vessels. This condition was confirmed by angiography with fluorescein in three cases and by optical coherence tomography (OCT) in one case. Progression showed the persistence of low vision in all four cases and the appearance of a neovascular membrane in one case. DISCUSSION: Combined hamartoma of the retina and retinal pigment epithelium is probably a congenital tumor whose pathogenesis has not yet been elucidated. The diagnosis is clinical and the patient can be thoroughly examined by retinal angiography and optical coherence tomography (OCT). In this disorder, it is important to eliminate retinoblastoma and malignant melanoma of the choroid, showing the advantage of radiological exploration. Progression is stationary; nevertheless a reduction in visual acuity can be related to an epiretinal membrane or a neovascular membrane. CONCLUSION: Knowledge of the clinical aspect is essential to differentiate this condition from the malignant retinal processes. This tumor can progress in spite of its benign character. Regular follow-up is essential and can improve the visual prognosis.
Asunto(s)
Hamartoma , Epitelio Pigmentado Ocular , Neoplasias de la Retina , Niño , Preescolar , Hamartoma/diagnóstico , Hamartoma/terapia , Humanos , Lactante , Masculino , Neoplasias de la Retina/diagnóstico , Neoplasias de la Retina/terapiaAsunto(s)
Trasplante de Córnea , Pterigion/cirugía , Adulto , Anciano , Humanos , Masculino , Métodos , Esclerótica/cirugíaRESUMEN
The authors are reporting an unusual case of scleral involvement in a case of Crohn's disease. A distinctive subepithelial keratopathy developed which though uncommon, should be regarded as a distinct clinical sign of Crohn's disease. The exact situation of ocular lesions among extra-intestinal complications of Crohn's disease, their incidence and aspects are discussed. The possible immunological basis of these manifestations, still unconvincing, is exposed and related to local deposition of antigen-antibody complexes.