Purpose: To report a novel mutation of the ABCC6 gene in a Japanese family tha t had a case of pseudoxanthoma elasticum (PXE) another with PXE and retinitis pi gmentosa. Methods: Ophthalmologic examinations were perfo...Purpose: To report a novel mutation of the ABCC6 gene in a Japanese family tha t had a case of pseudoxanthoma elasticum (PXE) another with PXE and retinitis pi gmentosa. Methods: Ophthalmologic examinations were performed, and the ABCC6 gen e was analysed by direct genomic sequencing. Results: Fundus examinations of the 48-year-old proband disclosed angioid streaks and a peud’orange apparance of the retina of the both eyes, whereas both of his 25-and 20-year-old daughter s had pigmentary degeneration and angioid streaks. In the sibilings, the mixed cone-rod ERG was almost nond etectable, whereas that of the proband was well-preserved. Molecular genetic an alysis revealed that the proband has a homozygous nonsense mutation at the 595 b p in the ABCC6, and the siblings were heterozygous for the same mutation. This m utation was not detected in Japanese subjects in the JSNP database (http:// snp. ims.u-tokyo.ac.jp/). Conculsions: Our results demonstrated an association betwe en a novel mutation in the ABCC6 gene and PXE in a Japanese family.展开更多
Purpose: To describe an elderly woman who presented with a serous retinal detachment (SRD) as the first sign of Philadelphia- chromosome- positive acute lymphoblastic leukemia (Ph+ ALL). Design: Observational case rep...Purpose: To describe an elderly woman who presented with a serous retinal detachment (SRD) as the first sign of Philadelphia- chromosome- positive acute lymphoblastic leukemia (Ph+ ALL). Design: Observational case report. Methods: A complete ophthalmic and systemic evaluation was performed on a 62- year- old woman because of decreased vision of 20/60 OD and 20/25 OS. Results: Fundus examination revealed a SRD involving the fovea. Fluorescein angiography disclosed multifocal spots of hyperfluorescence in the early phase, and diffuse subretinal accumulation of fluorescein in the late phase. She was diagnosedwith Ph+ ALL because of systemic findings. She underwent systemic chemotherapy and went into complete remission. Visual acuity improved to 20/20 in both eyes with resolution of the bilateral SRD. Conclusions: Our observations indicate that a sudden appearance of SRD, even in an elderly patient, warrants a thorough systemic screening for underlying leukemia. This is especially important, because prompt systemic chemotherapy can improve the visual acuity and the prognosis.展开更多
Purpose To determine when posterior vitreous detachment (PVD) develops in the fellow eye after development in the first eye. Design Prospective, observational case series. Participants Fifty-one patients with acute un...Purpose To determine when posterior vitreous detachment (PVD) develops in the fellow eye after development in the first eye. Design Prospective, observational case series. Participants Fifty-one patients with acute unilateral PVD partici pated in the study. Methods All patients underwent a comprehensive ocular examin ation, including a dynamic vitreous examination using biomicroscopy with and wit hout a preset lens and retinal examination with scleral depression, every 3 mont hs at least until PVD developed in the fellow eye. Results Posterior vitreous de tachment developed in 4 eyes (8%) within 6 months, 12 eyes (24%) within 1 year , 24 eyes (47%) within 18 months, 33 eyes (65%) within 2 years, 41 eyes (80%) within 30 months, and 46 eyes (90%) within 3 years. In 5 eyes (10%), PVD did not develop during the follow-up period of more than 3 years. Conclusions Poste rior vitreous detachment develops frequently in the felloweye from 6 months to 2 years after development in the first. These findings are useful for the managem ent of patients with unilateral PVD.展开更多
This study evaluates sirolimus in preserving renal function in 28 patients who developed renal insufficiency after liver transplantation.Patients with a creatinine level higher than 1.8 mg/ml were eligible for convers...This study evaluates sirolimus in preserving renal function in 28 patients who developed renal insufficiency after liver transplantation.Patients with a creatinine level higher than 1.8 mg/ml were eligible for conversion. Of the 28 patients, 7 (25% ) did not tolerate sirolimus, 6 (21% ) progressed to end-stage renal disease (ESRD), and 14 (50% ) have been maintained on sirolimus with stable renal function. The 28 patients overall had a decline in creatinine of 0.38 mg/dl (P=0.029) at week 4, with a small increase by week 24. However, the subset of 14 patients who did not develop ESRD had a decline in creatinine that persisted to week 48. While the differences between those who developed ESRD and those with stable renal function were not statistically significant, the patients who developed ESRD had a higher creatinine at conversion (2.8 vs 2.3) and a lower creatinine clearance (36 vs 53 ml/min). Patients receiving sirolimus had a persistent rise in cholesterol (P< 0.05). The use of sirolimus to preserve renal function was limited by patients unable to tolerate drug (25% ) and patients who developed ESRD (21% ).A subgroup of patients (50% ) had an improvement in creatinine that persisted for 48 weeks.展开更多
文摘Purpose: To report a novel mutation of the ABCC6 gene in a Japanese family tha t had a case of pseudoxanthoma elasticum (PXE) another with PXE and retinitis pi gmentosa. Methods: Ophthalmologic examinations were performed, and the ABCC6 gen e was analysed by direct genomic sequencing. Results: Fundus examinations of the 48-year-old proband disclosed angioid streaks and a peud’orange apparance of the retina of the both eyes, whereas both of his 25-and 20-year-old daughter s had pigmentary degeneration and angioid streaks. In the sibilings, the mixed cone-rod ERG was almost nond etectable, whereas that of the proband was well-preserved. Molecular genetic an alysis revealed that the proband has a homozygous nonsense mutation at the 595 b p in the ABCC6, and the siblings were heterozygous for the same mutation. This m utation was not detected in Japanese subjects in the JSNP database (http:// snp. ims.u-tokyo.ac.jp/). Conculsions: Our results demonstrated an association betwe en a novel mutation in the ABCC6 gene and PXE in a Japanese family.
文摘Purpose: To describe an elderly woman who presented with a serous retinal detachment (SRD) as the first sign of Philadelphia- chromosome- positive acute lymphoblastic leukemia (Ph+ ALL). Design: Observational case report. Methods: A complete ophthalmic and systemic evaluation was performed on a 62- year- old woman because of decreased vision of 20/60 OD and 20/25 OS. Results: Fundus examination revealed a SRD involving the fovea. Fluorescein angiography disclosed multifocal spots of hyperfluorescence in the early phase, and diffuse subretinal accumulation of fluorescein in the late phase. She was diagnosedwith Ph+ ALL because of systemic findings. She underwent systemic chemotherapy and went into complete remission. Visual acuity improved to 20/20 in both eyes with resolution of the bilateral SRD. Conclusions: Our observations indicate that a sudden appearance of SRD, even in an elderly patient, warrants a thorough systemic screening for underlying leukemia. This is especially important, because prompt systemic chemotherapy can improve the visual acuity and the prognosis.
文摘Purpose To determine when posterior vitreous detachment (PVD) develops in the fellow eye after development in the first eye. Design Prospective, observational case series. Participants Fifty-one patients with acute unilateral PVD partici pated in the study. Methods All patients underwent a comprehensive ocular examin ation, including a dynamic vitreous examination using biomicroscopy with and wit hout a preset lens and retinal examination with scleral depression, every 3 mont hs at least until PVD developed in the fellow eye. Results Posterior vitreous de tachment developed in 4 eyes (8%) within 6 months, 12 eyes (24%) within 1 year , 24 eyes (47%) within 18 months, 33 eyes (65%) within 2 years, 41 eyes (80%) within 30 months, and 46 eyes (90%) within 3 years. In 5 eyes (10%), PVD did not develop during the follow-up period of more than 3 years. Conclusions Poste rior vitreous detachment develops frequently in the felloweye from 6 months to 2 years after development in the first. These findings are useful for the managem ent of patients with unilateral PVD.
文摘This study evaluates sirolimus in preserving renal function in 28 patients who developed renal insufficiency after liver transplantation.Patients with a creatinine level higher than 1.8 mg/ml were eligible for conversion. Of the 28 patients, 7 (25% ) did not tolerate sirolimus, 6 (21% ) progressed to end-stage renal disease (ESRD), and 14 (50% ) have been maintained on sirolimus with stable renal function. The 28 patients overall had a decline in creatinine of 0.38 mg/dl (P=0.029) at week 4, with a small increase by week 24. However, the subset of 14 patients who did not develop ESRD had a decline in creatinine that persisted to week 48. While the differences between those who developed ESRD and those with stable renal function were not statistically significant, the patients who developed ESRD had a higher creatinine at conversion (2.8 vs 2.3) and a lower creatinine clearance (36 vs 53 ml/min). Patients receiving sirolimus had a persistent rise in cholesterol (P< 0.05). The use of sirolimus to preserve renal function was limited by patients unable to tolerate drug (25% ) and patients who developed ESRD (21% ).A subgroup of patients (50% ) had an improvement in creatinine that persisted for 48 weeks.
