RESUMO
AIM: To characterise new clinical features in a family with enhanced S-cone syndrome (ESCS) and investigate the pathogenesis of these clinical features in the homozygous Nr2e3(rd7) (rd7) mutant mice. METHODS: Four patients from an affected family were included for genotypic and phenotypic study. Eye tissues from rd7 mice were used to detect a possible relationship between macrophages and autofluorescent material by immunohistochemistry (IHC) staining. RESULTS: Homozygous mutation in R311Q in NR2E3 was detected in this family. Colour photographs revealed that white dots do not correlate to hyperautofluorescent spots seen in autofluorescence imaging of the macula. OCT showed rosette-like lesions similar to those found in rd7 mice histology sections. From IHC analysis, we observed that F4/80 (a pan macrophage marker) and autofluorescence were colocalised to the same cells within the retina rosettes. CONCLUSIONS: The retinal structure of a young ESCS patient with homozygous R311Q mutation in the NR2E3 gene is similar to that seen in the rd7 mice. The macrophages were found to contain autofluorescent materials in the retinal rosettes of rd7 mice. These data are consistent with macrophage infiltration contributing to the hyperautofluorescent spots found in our patients.
Assuntos
Regulação da Expressão Gênica no Desenvolvimento/genética , Mutação/genética , Receptores Citoplasmáticos e Nucleares/genética , Células Fotorreceptoras Retinianas Cones/fisiologia , Degeneração Retiniana/genética , Fatores de Transcrição/genética , Animais , Criança , Angiofluoresceinografia , Fundo de Olho , Regulação da Expressão Gênica no Desenvolvimento/fisiologia , Humanos , Imuno-Histoquímica , Masculino , Camundongos , Camundongos Mutantes , Receptores Nucleares Órfãos , Linhagem , Degeneração Retiniana/fisiopatologiaRESUMO
PURPOSE: To describe the morphologic alterations in ultrasound biomicroscopy (UBM) present in peripheral vitreoretinal toxocariasis. METHODS: An observational prospective study of case series. Fifteen eyes of 15 patients with clinical and laboratory diagnosis of peripheral vitreoretinal toxocariasis were enrolled. The patients were submitted to UBM examination of the region corresponding to the pars plana of the affected eye. RESULTS: The most common morphologic alterations found by UBM in patients with peripheral vitreoretinal toxocariasis were as follows: vitreal membranes (13 cases), toxocara granuloma (11 cases), and pseudocysts (8 cases). Other less frequent findings were thickening of the ciliary body (6 cases), cystic formation (2 cases), peripheral retinal detachment (2 cases), rectification of the iris root (1 case), and posterior synechiae (1 case). CONCLUSIONS: UBM allows detection of well-defined morphologic alterations associated with peripheral vitreoretinal toxocariasis, being useful to reinforce the clinical diagnosis.