Aim:To characterise and monitor abnormal fundus autofluorescence(AF)in patients with retinitis pigmentosa(RP)who have good visual acuity.Methods:21 patients with a clinical diagnosis of RP were examined.All had rod-co...Aim:To characterise and monitor abnormal fundus autofluorescence(AF)in patients with retinitis pigmentosa(RP)who have good visual acuity.Methods:21 patients with a clinical diagnosis of RP were examined.All had rod-cone dystrophy(ISCEV standard electroretinograms(ERGs)),visual acuity of 6/9 or better,and manifested a parafoveal ring of high density fundus AF.Repeat AF imaging was performed after periods of between 2 years and 5 years in 12 patients.Pattern ERG(PERG)and multifocal ERG(mfERG)were performed in 20 cases.Visual fields(VF),photopic and scotopic fine matrix mapping and small field PERGs were performed in representative cases.Results:The rings of high density AF varied in size between patients(from 4°-16° diameter).MfERGs showed relative preservation over the central macular area,correlating with the size of AF ring and with PERG and psychophysical data.Progressive constriction of the AF ring was demonstrated at follow up in three patients.Serial PERG,mfERG,and VFs,performed in one of these cases,showed evidence of deterioration concordant with ring constriction.Conclusions:High density rings of AF,seen in some patients with RP with good visual acuity,demarcate areas of preserved central photopic function.MfERGs correlate with the area encircled by high density AF and the PERG data.The size of the ring of AF can show progressive constriction accompanied by increasing macular dysfunction.展开更多
PURPOSE: o estimate the mean rates of decline of ocular function in patients with an atypical form of retinitis pigmentosa, termed “ pericentral retinitis pigmentosa.” DESIGN: Retrospective observational study. METH...PURPOSE: o estimate the mean rates of decline of ocular function in patients with an atypical form of retinitis pigmentosa, termed “ pericentral retinitis pigmentosa.” DESIGN: Retrospective observational study. METHODS: setting: Single-center. patient population: Eighteen patients (ages 32 to 65 years) with pericentral retinitis pigmentosa followed for 3 to 26 years. observational procedures: Snellen visual acuity, Goldmann visual field area (V-4e white test light), and full-field electroretinogram (ERG) amplitudes (0.5Hz and 30Hz white flashes). main outcome measures: Mean annual exponential rates of change quantified by repeated-measures longitudinal regression. RESULTS: Estimated mean annual rates of decline of remaining ocular function were 1.2% for visual acuity,1.9% for visual field area, 2.5% for ERG amplitude to 0.5 Hz flashes, and 2.9% for ERG amplitude to 30 Hz flashes. CONCLUSIONS: The mean rates of loss of remaining ocular function of patients with pericentral retinitis pigmentosa were generally slower than those previously reported for patients with typical forms of retinitis pigmentosa.展开更多
PURPOSE. To compare psychophysically determined spatial variations in photopic and scotopic sensitivity across the macula in patients with retinitis pigmentosa (RP) and normal visual acuity who manifest an abnormal hi...PURPOSE. To compare psychophysically determined spatial variations in photopic and scotopic sensitivity across the macula in patients with retinitis pigmentosa (RP) and normal visual acuity who manifest an abnormal high- density ring of fundus autofluorescence (AF). METHODS. Eleven patients with a clinical diagnosis of RP were examined. All had rod- cone dystrophy (International Society for Clinical Electrophysiology of Vision [ISCEVAbstract- standard ERGs), visual acuity of 6/9 or better, and an abnormal parafoveal annulus of high density AF. Finematrix mapping (FMM) was performed over macular areas of abnormal high- density AF under photopic and dark- adapted conditions. Pattern ERGs (PERGs) were performed in 9 of 11 patients, by using different sizes of circular checkerboards. RESULTS. Rings of high- density AF varied between patients (approximately 3° - 18° in diameter). Photopic sensitivity was preserved over central macular areas, but there was a gradient of sensitivity loss over high- density segments of the ring and severe threshold elevation outside the arc of the ring. Scotopic sensitivity losses were more severe, and they encroached on areas within the ring. The radius of the high- density ring correlated with the lateral extent of preserved photopic sensitivity (r=0.86) and PERG data. CONCLUSIONS. High- density rings of AF, which are present in some patients with RP with normal visual acuity, demarcate areas of preserved central photopic sensitivity. Scotopic sensitivity losses encroach on areas within the ring of high density and may reflect dysfunction before accumulation of lipofuscin.展开更多
Purpose: To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene. Methods: Mutational screening by direct sequ...Purpose: To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene. Methods: Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit- lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. Results: A Thr494Met mutation in the HPRP3 gene was found in one family and it cosegregated with ADRP in the three affected members. The ophthalmic findings were those of typical retinitis pigmentosa with rapid progression after 40- years- of- age. One patient also had retinoblastoma as a child. Conclusion: We conclude that the Thr494Met m utation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan.展开更多
Objective:To report the subjective and objective im-provement in vision in a patient with autosomal dominant retinitis pigmentosa after transpl antation of a sheet of fe-tal neural retina together with its r etinal pi...Objective:To report the subjective and objective im-provement in vision in a patient with autosomal dominant retinitis pigmentosa after transpl antation of a sheet of fe-tal neural retina together with its r etinal pigment ep-ithelium.Designs:A sheet of fetal n eural retina with its retinal pigment epithelium was tran splanted into the subretinal space under the fovea uni laterally in a patient with retinitis pigmentosa with visu al acuity of 20/800in the treated eye.Early Treatment Dia betic Retinopathy Study visual acuity testing,scanni ng laser ophthalmo-scope,tissue typing of the donor and recipient,fluo-rescein angiography,multifocal electroretinogram,multi-focal visually evoked potential,an d clinical examination were used.Results:No clinical evid ence of rejection was observed.There was no retinal ed ema or scarring.The transplant sheet lost its pigmen tation by 6months.Main Outcome Measures:A change in visual acuity from20/800to 20/400(7months),20/250(9months),and 20/160(1year)was observed by Early Treatment Diabetic Retinopathy Study visual a cuity testing.Inde-pendently,scanning laser ophthalm oscope testing at a different institution at 9months sh owed a visual acuity of20/270at a 40°field of view.Conclusion:This study indicates that fetal retina transpl anted with its retinal pigment epithelium can survive 1year without apparent clinical evidence of rejection and s how continued im-provement in Early Treatment Diabetic Retinopathy Study visual acuity.展开更多
文摘Aim:To characterise and monitor abnormal fundus autofluorescence(AF)in patients with retinitis pigmentosa(RP)who have good visual acuity.Methods:21 patients with a clinical diagnosis of RP were examined.All had rod-cone dystrophy(ISCEV standard electroretinograms(ERGs)),visual acuity of 6/9 or better,and manifested a parafoveal ring of high density fundus AF.Repeat AF imaging was performed after periods of between 2 years and 5 years in 12 patients.Pattern ERG(PERG)and multifocal ERG(mfERG)were performed in 20 cases.Visual fields(VF),photopic and scotopic fine matrix mapping and small field PERGs were performed in representative cases.Results:The rings of high density AF varied in size between patients(from 4°-16° diameter).MfERGs showed relative preservation over the central macular area,correlating with the size of AF ring and with PERG and psychophysical data.Progressive constriction of the AF ring was demonstrated at follow up in three patients.Serial PERG,mfERG,and VFs,performed in one of these cases,showed evidence of deterioration concordant with ring constriction.Conclusions:High density rings of AF,seen in some patients with RP with good visual acuity,demarcate areas of preserved central photopic function.MfERGs correlate with the area encircled by high density AF and the PERG data.The size of the ring of AF can show progressive constriction accompanied by increasing macular dysfunction.
文摘PURPOSE: o estimate the mean rates of decline of ocular function in patients with an atypical form of retinitis pigmentosa, termed “ pericentral retinitis pigmentosa.” DESIGN: Retrospective observational study. METHODS: setting: Single-center. patient population: Eighteen patients (ages 32 to 65 years) with pericentral retinitis pigmentosa followed for 3 to 26 years. observational procedures: Snellen visual acuity, Goldmann visual field area (V-4e white test light), and full-field electroretinogram (ERG) amplitudes (0.5Hz and 30Hz white flashes). main outcome measures: Mean annual exponential rates of change quantified by repeated-measures longitudinal regression. RESULTS: Estimated mean annual rates of decline of remaining ocular function were 1.2% for visual acuity,1.9% for visual field area, 2.5% for ERG amplitude to 0.5 Hz flashes, and 2.9% for ERG amplitude to 30 Hz flashes. CONCLUSIONS: The mean rates of loss of remaining ocular function of patients with pericentral retinitis pigmentosa were generally slower than those previously reported for patients with typical forms of retinitis pigmentosa.
文摘PURPOSE. To compare psychophysically determined spatial variations in photopic and scotopic sensitivity across the macula in patients with retinitis pigmentosa (RP) and normal visual acuity who manifest an abnormal high- density ring of fundus autofluorescence (AF). METHODS. Eleven patients with a clinical diagnosis of RP were examined. All had rod- cone dystrophy (International Society for Clinical Electrophysiology of Vision [ISCEVAbstract- standard ERGs), visual acuity of 6/9 or better, and an abnormal parafoveal annulus of high density AF. Finematrix mapping (FMM) was performed over macular areas of abnormal high- density AF under photopic and dark- adapted conditions. Pattern ERGs (PERGs) were performed in 9 of 11 patients, by using different sizes of circular checkerboards. RESULTS. Rings of high- density AF varied between patients (approximately 3° - 18° in diameter). Photopic sensitivity was preserved over central macular areas, but there was a gradient of sensitivity loss over high- density segments of the ring and severe threshold elevation outside the arc of the ring. Scotopic sensitivity losses were more severe, and they encroached on areas within the ring. The radius of the high- density ring correlated with the lateral extent of preserved photopic sensitivity (r=0.86) and PERG data. CONCLUSIONS. High- density rings of AF, which are present in some patients with RP with normal visual acuity, demarcate areas of preserved central photopic sensitivity. Scotopic sensitivity losses encroach on areas within the ring of high density and may reflect dysfunction before accumulation of lipofuscin.
文摘Purpose: To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene. Methods: Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit- lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. Results: A Thr494Met mutation in the HPRP3 gene was found in one family and it cosegregated with ADRP in the three affected members. The ophthalmic findings were those of typical retinitis pigmentosa with rapid progression after 40- years- of- age. One patient also had retinoblastoma as a child. Conclusion: We conclude that the Thr494Met m utation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan.
文摘Objective:To report the subjective and objective im-provement in vision in a patient with autosomal dominant retinitis pigmentosa after transpl antation of a sheet of fe-tal neural retina together with its r etinal pigment ep-ithelium.Designs:A sheet of fetal n eural retina with its retinal pigment epithelium was tran splanted into the subretinal space under the fovea uni laterally in a patient with retinitis pigmentosa with visu al acuity of 20/800in the treated eye.Early Treatment Dia betic Retinopathy Study visual acuity testing,scanni ng laser ophthalmo-scope,tissue typing of the donor and recipient,fluo-rescein angiography,multifocal electroretinogram,multi-focal visually evoked potential,an d clinical examination were used.Results:No clinical evid ence of rejection was observed.There was no retinal ed ema or scarring.The transplant sheet lost its pigmen tation by 6months.Main Outcome Measures:A change in visual acuity from20/800to 20/400(7months),20/250(9months),and 20/160(1year)was observed by Early Treatment Diabetic Retinopathy Study visual a cuity testing.Inde-pendently,scanning laser ophthalm oscope testing at a different institution at 9months sh owed a visual acuity of20/270at a 40°field of view.Conclusion:This study indicates that fetal retina transpl anted with its retinal pigment epithelium can survive 1year without apparent clinical evidence of rejection and s how continued im-provement in Early Treatment Diabetic Retinopathy Study visual acuity.
