Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/líquido cefalorraquidiano , Encefalite Antirreceptor de N-Metil-D-Aspartato/imunologia , Adulto , Negro ou Afro-Americano , Anti-Inflamatórios , Ansiedade/etiologia , Asiático , Criança , Serviço Hospitalar de Emergência , Feminino , Humanos , Imunoglobulinas Intravenosas/imunologia , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Transtornos da Memória/etiologia , Metilprednisolona/uso terapêutico , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/cirurgia , Convulsões/etiologia , Distúrbios do Início e da Manutenção do Sono/etiologiaRESUMO
Drusen are extracellular deposits that accumulate between the retinal pigment epithelium and Bruch's membrane. They are one of the earliest clinical manifestations of age-related macular degeneration and it is thought that they disrupt the overlying photoreceptors, leading to subsequent vision loss. The purpose of this study was to illustrate how spectral domain optical coherence tomography and adaptive optics fundus imaging can be used to quantitatively analyze the integrity of the overlying photoreceptors in a single subject with macular drusen. This imaging approach and the image analysis metrics introduced may serve as the foundation for valuable imaging-based biomarkers for detecting the earliest stages of disease, tracking progression, and monitoring treatment response.
Assuntos
Técnicas de Diagnóstico Oftalmológico , Células Fotorreceptoras de Vertebrados/patologia , Drusas Retinianas/diagnóstico , Tomografia de Coerência Óptica , Feminino , Angiofluoresceinografia , Humanos , Pessoa de Meia-Idade , Óptica e FotônicaRESUMO
Missense mutations in the cone opsins have been identified as a relatively common cause of red/green color vision defects, with the most frequent mutation being the substitution of arginine for cysteine at position 203 (C203R). When the corresponding cysteine is mutated in rhodopsin, it disrupts proper folding of the pigment, causing severe, early onset retinitis pigmentosa. While the C203R mutation has been associated with loss of cone function in color vision deficiency, it is not known what happens to cones expressing this mutant opsin. Here, we used high-resolution retinal imaging to examine the cone mosaic in two individuals with genes encoding a middle-wavelength sensitive (M) pigment with the C203R mutation. We found a significant reduction in cone density compared to normal and color-deficient controls, accompanying disruption in the cone mosaic in both individuals, and thinning of the outer nuclear layer. The C203R mosaics were different from that produced by another mutation (LIAVA) previously shown to disrupt the cone mosaic. Comparison of these mosaics provides insight into the timing and degree of cone disruption and has implications for the prospects for restoration of vision loss associated with various cone opsin mutations.
