Purpose: To report the optical coherence tomographic (OCT)- findings in a case of Best’ s disease. Design: Observational case report. Methods: Optical coherence tomography was carried out to understand the pathogenes...Purpose: To report the optical coherence tomographic (OCT)- findings in a case of Best’ s disease. Design: Observational case report. Methods: Optical coherence tomography was carried out to understand the pathogenesis of Best’ s disease in a 13- year- old girl. Results: Optical coherence tomography demonstrated that the lipofuscin accumulated in a cystic space underneath the retinal pigment epithelium in the “ pseudohypopyon stage” of Best’ s disease. It also demonstrated the disruption of the photoreceptors in the “ scrambled egg” stage. Conclusions: These new OCT findings could explain the retention of good visual acuity in the “ pseudohypopyon stage” and the loss of visual acuity in the “ scrambled egg” stage of Best’ s disease.展开更多
PURPOSE. To investigate the genetic basis of autosomal dominant vitreoretinoch oroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalm...PURPOSE. To investigate the genetic basis of autosomal dominant vitreoretinoch oroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos. METHODS. A combina tion of linkage analysis and DNA sequencing in five families was used to identif y disease-causing mutations in VMD2. The effect of these mutations on splicing was assessed using a minigene system. RESULTS. Three pathogenic sequence alterat ions in VMD2 were identified in five families with nanophthalmos associated with ADVIRC. All sequences showed simultaneousmissense substitutions and exon skippi ng. CONCLUSIONS. VMD2 encodes bestrophin, a transmembrane protein located at the basolateral membrane of the RPE, that is also mutated in Best macular dystrophy . We support that each heterozygous affected individual produces three bestrophi n isoforms consisting of the wild type and two abnormal forms: one containing a missense substitution and the other an in-frame deletion. The data showed that VMD2 mutations caused defects of ocular patterning, supporting the hypothesized role for the RPE, and specifically VMD2, in the normal growth and development of the eye.展开更多
Purpose To report the morphologic data of adult-onset foveomacular vitelliform dystrophy(AFVD)provided by thirdgeneration optical coherence tomography(OCT 3).Design Observational case report.Methods An 85-year-old wom...Purpose To report the morphologic data of adult-onset foveomacular vitelliform dystrophy(AFVD)provided by thirdgeneration optical coherence tomography(OCT 3).Design Observational case report.Methods An 85-year-old woman presenting with AFVD underwen t fundus biomi-croscopy,fluorescein angiography,and OCT examination.Results Fundus examination disclosed a round,elevated yellowish lesion,centered by a pigm ented spot,in the macula of the left eye.Examination with OCT disclosed an area of hyperreflectivity located b etween the retinal pigment epithelium layer and the photorecep tor layer,compatible in size with the yellowish elevated lesion.The hyperreflective line corresponding to the photoreceptor layer was elevated by the material and separated from th e retinal pigment ep-ithelium layer.Conclusions In AFVD,examination with OCT 3demonstrates elevation of the p hotoreceptor layer by the material and supports the previo us hypothesis that the material is located between the photoreceptor and the reti-nal pigment epithelium layer.展开更多
文摘Purpose: To report the optical coherence tomographic (OCT)- findings in a case of Best’ s disease. Design: Observational case report. Methods: Optical coherence tomography was carried out to understand the pathogenesis of Best’ s disease in a 13- year- old girl. Results: Optical coherence tomography demonstrated that the lipofuscin accumulated in a cystic space underneath the retinal pigment epithelium in the “ pseudohypopyon stage” of Best’ s disease. It also demonstrated the disruption of the photoreceptors in the “ scrambled egg” stage. Conclusions: These new OCT findings could explain the retention of good visual acuity in the “ pseudohypopyon stage” and the loss of visual acuity in the “ scrambled egg” stage of Best’ s disease.
文摘PURPOSE. To investigate the genetic basis of autosomal dominant vitreoretinoch oroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos. METHODS. A combina tion of linkage analysis and DNA sequencing in five families was used to identif y disease-causing mutations in VMD2. The effect of these mutations on splicing was assessed using a minigene system. RESULTS. Three pathogenic sequence alterat ions in VMD2 were identified in five families with nanophthalmos associated with ADVIRC. All sequences showed simultaneousmissense substitutions and exon skippi ng. CONCLUSIONS. VMD2 encodes bestrophin, a transmembrane protein located at the basolateral membrane of the RPE, that is also mutated in Best macular dystrophy . We support that each heterozygous affected individual produces three bestrophi n isoforms consisting of the wild type and two abnormal forms: one containing a missense substitution and the other an in-frame deletion. The data showed that VMD2 mutations caused defects of ocular patterning, supporting the hypothesized role for the RPE, and specifically VMD2, in the normal growth and development of the eye.
文摘Purpose To report the morphologic data of adult-onset foveomacular vitelliform dystrophy(AFVD)provided by thirdgeneration optical coherence tomography(OCT 3).Design Observational case report.Methods An 85-year-old woman presenting with AFVD underwen t fundus biomi-croscopy,fluorescein angiography,and OCT examination.Results Fundus examination disclosed a round,elevated yellowish lesion,centered by a pigm ented spot,in the macula of the left eye.Examination with OCT disclosed an area of hyperreflectivity located b etween the retinal pigment epithelium layer and the photorecep tor layer,compatible in size with the yellowish elevated lesion.The hyperreflective line corresponding to the photoreceptor layer was elevated by the material and separated from th e retinal pigment ep-ithelium layer.Conclusions In AFVD,examination with OCT 3demonstrates elevation of the p hotoreceptor layer by the material and supports the previo us hypothesis that the material is located between the photoreceptor and the reti-nal pigment epithelium layer.
