Purpose: To show the follow-up of a case of vitelliform macular dystrophy with morphological and visual functional tests over an 8-year period.Methods:.Retrospective review of medical records..The morphological examin...Purpose: To show the follow-up of a case of vitelliform macular dystrophy with morphological and visual functional tests over an 8-year period.Methods:.Retrospective review of medical records..The morphological examination included color photography,.fluorescein angiography, and ocular coherence tomography(OCT).The visual functional tests included visual acuity, electro-oculogram(EOG) and multifocal electroretinography(mf ERG).The patient was observed for 8 years, from 2003 to 2011.Results:.During the follow-up,.the improvement of sensory retinal detachment and reduction of yellow-white deposit were observed with color photography and fluorescein angiography.OCT revealed a decrease in sensory retinal detachment and subretinal hyper-reflective deposits; both of these morphological changes were correspondent. Visual acuity was maintained throughout the follow-up..The Arden ratio of EOG was decreased. The amplitudes of mf ERG were decreased but slightly increased during the follow-up.Conclusion:.The retinal morphological changes and visual function slightly improved in this case of vitelliform maculopathy. The prognosis is good.展开更多
AIM:To describe the clinical heterogeneity of patients with novel mutations in BEST1.METHODS:All the members in the two Chinese families underwent detailed clinical evaluations including best-corrected visual acuity,s...AIM:To describe the clinical heterogeneity of patients with novel mutations in BEST1.METHODS:All the members in the two Chinese families underwent detailed clinical evaluations including best-corrected visual acuity,slit-lamp examination,applanation tonometry,and dilated fundus examination.Fundus autofluorescence,fundus fluorescein angiography,spectral-domain optical coherence tomography,electrooculography,and electroretinogram were also performed.Genomic DNA was extracted from venous blood for all the participants.The targeted next-generation sequencing of inherited retinal disease-associated genes was conducted to identify the causative mutation.RESULTS:A novel BEST1 missense mutation c.41T>C(p.Leu14Ser) was identified in Family 1.It was co-segregated with the phenotype of best vitelliform macular dystrophy(BVMD) and bioinformatics analysis confirmed it was harmful.Another novel BEST1 frameshift mutation c.345_(3)46insGGCAAGGACG(p.Glu119Glyfs*116) and a novel USH2A missense mutation c.12560G>A,p.Arg4187 His were identified in family 2 with retinitis pigmentosa(RP),which might interact and lead to the phenotype of RP.CONCLUSION:Two novel mutations in the BEST1 gene in two unrelated families with distinct phenotypes and BEST1 mutation accompanied with USH2A mutation would result in RP,which could be enormously helpful in understanding the pathogenesis of the inherited retinal disease caused by a BEST1 mutation.展开更多
文摘Purpose: To show the follow-up of a case of vitelliform macular dystrophy with morphological and visual functional tests over an 8-year period.Methods:.Retrospective review of medical records..The morphological examination included color photography,.fluorescein angiography, and ocular coherence tomography(OCT).The visual functional tests included visual acuity, electro-oculogram(EOG) and multifocal electroretinography(mf ERG).The patient was observed for 8 years, from 2003 to 2011.Results:.During the follow-up,.the improvement of sensory retinal detachment and reduction of yellow-white deposit were observed with color photography and fluorescein angiography.OCT revealed a decrease in sensory retinal detachment and subretinal hyper-reflective deposits; both of these morphological changes were correspondent. Visual acuity was maintained throughout the follow-up..The Arden ratio of EOG was decreased. The amplitudes of mf ERG were decreased but slightly increased during the follow-up.Conclusion:.The retinal morphological changes and visual function slightly improved in this case of vitelliform maculopathy. The prognosis is good.
基金Supported by the Health Special Research Projects of Military Commission (No.19BJZ39)the Key Research Plan of Hainan Province (No.ZDYF2020031)。
文摘AIM:To describe the clinical heterogeneity of patients with novel mutations in BEST1.METHODS:All the members in the two Chinese families underwent detailed clinical evaluations including best-corrected visual acuity,slit-lamp examination,applanation tonometry,and dilated fundus examination.Fundus autofluorescence,fundus fluorescein angiography,spectral-domain optical coherence tomography,electrooculography,and electroretinogram were also performed.Genomic DNA was extracted from venous blood for all the participants.The targeted next-generation sequencing of inherited retinal disease-associated genes was conducted to identify the causative mutation.RESULTS:A novel BEST1 missense mutation c.41T>C(p.Leu14Ser) was identified in Family 1.It was co-segregated with the phenotype of best vitelliform macular dystrophy(BVMD) and bioinformatics analysis confirmed it was harmful.Another novel BEST1 frameshift mutation c.345_(3)46insGGCAAGGACG(p.Glu119Glyfs*116) and a novel USH2A missense mutation c.12560G>A,p.Arg4187 His were identified in family 2 with retinitis pigmentosa(RP),which might interact and lead to the phenotype of RP.CONCLUSION:Two novel mutations in the BEST1 gene in two unrelated families with distinct phenotypes and BEST1 mutation accompanied with USH2A mutation would result in RP,which could be enormously helpful in understanding the pathogenesis of the inherited retinal disease caused by a BEST1 mutation.
