Assuntos
Surdez/genética , Proteínas do Olho/genética , Deficiência Intelectual/genética , Proteínas do Tecido Nervoso/genética , Descolamento Retiniano/genética , Descolamento Retiniano/cirurgia , Vitrectomia/métodos , Cegueira/congênito , Pré-Escolar , Angiofluoresceinografia , Humanos , Fotocoagulação a Laser , Masculino , Retina/anormalidades , Descolamento Retiniano/diagnóstico , Acuidade VisualRESUMO
Fourteen patients with localized orbital mucosa-associated lymphoid tissue lymphoma diagnosed between 1998 and 2005 were reviewed. Five patients were males and 9 were females, with a mean age of 58 years. In 8 patients, the disease arose from the conjunctiva, and in 6 patients, it originated from the retrobulbar space. Patients were treated with radiotherapy alone at a dose range from 30 to 54 Gy. All patients with conjunctival lymphoma achieved complete remission (CR). Four patients with retrobulbar lymphoma obtained CR, and unconfirmed CR (CRu) was observed in 2 cases. Orbital extraconal lymphoma disappeared. However, intraconal cord-like tumor and mass involving the medial extraocular muscle remained with the absence of regrowth over the long term. There have been very few reports discussing the histology of residual mass after radiotherapy. Residual mass was suggested to be reactive lymphoid hyperplasia. As a dose of more than 40 Gy induced dry eye syndrome or cataract, the dose must not exceed 40 Gy in order to achieve safe treatment of orbital mucosa-associated lymphoid tissue lymphoma.
Assuntos
Neoplasias da Túnica Conjuntiva/radioterapia , Linfoma de Zona Marginal Tipo Células B/radioterapia , Neoplasias Orbitárias/radioterapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Túnica Conjuntiva/diagnóstico por imagem , Neoplasias da Túnica Conjuntiva/patologia , Feminino , Humanos , Linfoma de Zona Marginal Tipo Células B/diagnóstico por imagem , Linfoma de Zona Marginal Tipo Células B/patologia , Masculino , Pessoa de Meia-Idade , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/patologia , Dosagem Radioterapêutica , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To search for mutations in the Norrie disease gene (NDP) in Japanese patients with familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) and to delineate the mutation-associated clinical features. METHODS: Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members. The clinical symptoms and signs in the patients with mutations were assessed. X-inactivation in the female carriers was examined in three FEVR families by using leukocyte DNA. RESULTS: Four novel mutations-I18K, K54N, R115L, and IVS2-1G-->A-and one reported mutation, R97P, in the NDP gene were identified in six families. The severity of vitreoretinopathy varied among these patients. Three probands with either K54N or R115L had typical features of FEVR, whereas the proband with R97P had those of ND. Families with IVS2-1G-->A exhibited either ND or FEVR characteristics. A proband with I18K presented with significant phenotypic heterogeneity between the two eyes. In addition, affected female carriers in a family harboring the K54N mutation presented with different degrees of vascular abnormalities in the periphery of the retina. X-inactivation profiles indicated that the skewing was not significantly different between affected and unaffected women. CONCLUSIONS: These observations indicate that mutations of the NDP gene can cause ND and 6% of FEVR cases in the Japanese population. The X-inactivation assay with leukocytes may not be predictive of the presence of a mutation in affected female carriers.
Assuntos
Cegueira/genética , Proteínas do Olho/genética , Mutação , Proteínas do Tecido Nervoso/genética , Doenças Retinianas/genética , Vitreorretinopatia Proliferativa/genética , Adolescente , Adulto , Povo Asiático/etnologia , Cegueira/etnologia , Cegueira/patologia , Criança , Pré-Escolar , Cromossomos Humanos X/genética , Análise Mutacional de DNA , Surdez/etnologia , Surdez/genética , Surdez/patologia , Exsudatos e Transudatos , Feminino , Heterozigoto , Humanos , Lactente , Deficiência Intelectual/etnologia , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Japão/epidemiologia , Masculino , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Doenças Retinianas/etnologia , Doenças Retinianas/patologia , Vitreorretinopatia Proliferativa/etnologia , Vitreorretinopatia Proliferativa/patologia , Inativação do Cromossomo X/genéticaRESUMO
Tears of the retinal pigment epithelium are known to occur either spontaneously or after laser photocoagulation in eyes with retinal pigment epithelium detachment. A 65-year-old man with preexisting retinal pigment epithelium detachment developed a retinal pigment epithelium tear after dye laser retinal photocoagulation. The tear gradually expanded to involve the fovea, but his best-corrected visual acuity remained 0.7 in the left eye during 20 months. Optical coherence tomography showed a defect of the retinal pigment epithelium with absence of regeneration. Scanning laser ophthalmoscopy revealed his fixation approached intact retinal pigment epithelium, but was still beneath the fovea. This case may indicate that the retinal pigment epithelium directly beneath the central macula is not essential for maintenance of the overlying foveal function under some conditions.
