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1.
Retin Cases Brief Rep ; 15(5): 602-604, 2021 Sep 01.
Article in English | MEDLINE | ID: mdl-30839441

ABSTRACT

BACKGROUND: To report a case of late-onset lysosomal storage disorder presenting with bilateral macular cherry-red spot. METHODS: Case report. RESULTS: A 20-year-old female patient with bilateral progressive visual loss was found to have bilateral macular cherry-red spots and was subsequently diagnosed as a possible late-onset Tay-Sachs disease according to results of the genetic analysis. CONCLUSION: Most lysosomal storage disorders are known as pediatric diseases. However, we must consider the possibility of late-onset lysosomal disorder in case of progressive visual loss and macular cherry-red spot in adult patients.


Subject(s)
Lysosomal Storage Diseases , Macula Lutea , Age of Onset , Female , Humans , Lysosomal Storage Diseases/diagnosis , Macula Lutea/pathology , Vision Disorders/etiology , Young Adult
2.
Saudi J Ophthalmol ; 30(4): 217-220, 2016.
Article in English | MEDLINE | ID: mdl-28003778

ABSTRACT

PURPOSE: To evaluate the efficacy of pre-operative intravitreal bevacizumab injection on the rate of postoperative vitreous hemorrhage in patients undergoing vitrectomy for complications of proliferative diabetic retinopathy. METHODS: Consecutive retrospective comparative cohort study. Forty eyes of 37 patients who received pre-operative intravitreal bevacizumab 1.25 mg were compared to a similar group of 44 eyes of 44 patients who had undergone vitrectomy surgery prior to the availability and widespread use of pre-operative intravitreal bevacizumab. The primary outcome measure was the incidence of post-vitrectomy hemorrhage at one week after surgery. Secondary outcome measures included are postoperative vitreous hemorrhage at one month and changes in the best-corrected visual acuity (BCVA). For statistical analysis, the paired Student's t-test and Fisher's exact test were used. RESULTS: Four out of 40 eyes (10%) pretreated with intravitreal bevacizumab vs. 12 of 44 eyes (27%) not pretreated with intravitreal bevacizumab had a clinically significant postoperative vitreous hemorrhage at one week. The mean best-corrected visual acuity (BCVA) in bevacizumab group improved from a mean of hand motions to a mean of 20/300 at 1 month (range: 20/25-light perception; p < .001) and mean BCVA in the non-injected group improved from preoperative mean of hand motion to 20/200 at one month follow-up (range: 20/25-no light perception; p < .001). In both groups, 4 patients (12%) needed repeat vitrectomy. CONCLUSION: There is a trend to reduced incidence of early post-vitrectomy hemorrhage in patients undergoing vitrectomy for complications of proliferative diabetic retinopathy that have been pre-treated with intravitreal bevacizumab 1 week prior to surgery.

3.
Isr Med Assoc J ; 14(6): 363-6, 2012 Jun.
Article in English | MEDLINE | ID: mdl-22891397

ABSTRACT

BACKGROUND: Delayed diagnosis of choroidal neovas cularization (CNV) in age-related macular degeneration (AMD) adversely affects visual outcome. OBJECTIVES: To identify factors associated with early detection of CNV in the clinic setting. METHODS: Demographic and clinical data and lesion characteristics were retrospectively collected from 76 consecutive AMD patients who had a history of CNV in one eye and presented with CNV in the second eye. These data were evaluated for association with visual acuity (VA) at the time of presentation. RESULTS: Better VA was associated with a history of CNV in the fellow eye (P < 0.0001), adherence to follow-up every 4 months (P = 0.015), younger age (P = 0.03), smaller lesion (P < 0.0001), and non-subfoveal location (P = 0.048). VA of the fellow eye did not correlate with VA at presentation with CNV. CONCLUSIONS: These data suggest that patients' experience of CNV, regardless of VA, facilitates early diagnosis in the fellow eye. Adherence to follow-up in the routine clinic setting also facilitates early detection of CNV.


Subject(s)
Choroidal Neovascularization/complications , Choroidal Neovascularization/diagnosis , Macular Degeneration/complications , Aged , Aged, 80 and over , Delayed Diagnosis , Early Diagnosis , Female , Humans , Male , Outpatient Clinics, Hospital , Retrospective Studies , Visual Acuity
4.
Case Rep Ophthalmol Med ; 2011: 942946, 2011.
Article in English | MEDLINE | ID: mdl-22606481

ABSTRACT

Exposure of implanted episcleral element is a rare complication of buckling procedures. We describe a 40-year-old man who presented to our clinic complaining of foreign body sensation and irritation in his left eye which lasted several months. The patient history was positive for bilateral rhegmatogenous retinal detachment which was treated with sclera buckling. Upon presentation the left eye demonstrated phthisis and an exposed and infected sclera buckle and explant in the lower quadrants. The explant was removed, and the patient was treated with antibiotics. This case suggests that wide encircling sclera element might erode through the conjunctiva of eyes undergoing phthisis. Integrity of the conjunctiva overlying episcleral implant should be evaluated during routine follow-up exams to exclude exposure of the implant particularly in eyes undergoing phthisis.

5.
J Ocul Pharmacol Ther ; 25(6): 475-82, 2009 Dec.
Article in English | MEDLINE | ID: mdl-20028256

ABSTRACT

PURPOSE: Recent evidence suggests that oxidative injury plays a significant role in the pathogenesis of retinal degenerative diseases. Para-aminobenzoic acid (PABA) is a cyclic amino acid, which may act to decrease lipid peroxidation and oxidative injury. Our aim was to evaluate the efficacy of PABA in attenuating oxidative injury and rate of retinal degeneration in the rd10 mouse. METHODS: PABA (50 mg/kg) was administered intraperitoneally six times per week in 28 rd10 mice from postnatal day 3. Twenty-four littermate control mice were similarly injected with saline. At 3, 4.5, and 6 weeks of age, electrophysiological (full field electroretinogram-ERG), quantitative histological, and immunohistochemical techniques were used to assess the course and extent of retinal degeneration. Degree of lipid peroxidation was determined by the measurement of thiobarbituric acid reactive species (TBARS) and retinal carbonyl content was quantified using the 2,4-dinitrophenylhydrazine method. RESULTS: Dark adapted mixed rod-cone ERG responses at 3 weeks of age were higher in the PABA-treated group as compared to saline control (P < 0.05). By 4.5 weeks, this protective effect was largely abolished and by 6 weeks ERG was unrecordable in both groups. However, at both 3 and 4.5 weeks of age, light-adapted cone ERG amplitudes were better preserved in PABA-treated animals. At 4.5 weeks, thickness of the outer nuclear layer was 28.6% higher in the peripheral retina of PABA-treated mice as compared to controls (P < 0.05). Quantitative immunohistochemistry revealed 2.4-fold higher red/green cone opsin content in the retinas of PABA-treated mice (P < 0.005). At both 3 and 4.5 weeks, levels of TBARS and protein carbonyls were 49%-69% lower in PABA-treated retinas (P < 0.05-0.0005), suggesting less oxidative injury. CONCLUSIONS: PABA treatment may protect retinal function and attenuate the course of retinal degeneration in rd10 mice. Biochemical parameters indicate a lower degree of oxidative injury in PABA-treated retinas. PABA may potentially serve as an addition to antioxidative treatment for retinal and macular degenerations.


Subject(s)
4-Aminobenzoic Acid/pharmacology , Antioxidants/pharmacology , Oxidative Stress/drug effects , Retinal Degeneration/prevention & control , Animals , Electrophysiology , Injections, Intraperitoneal , Lipid Peroxidation/drug effects , Mice , Mice, Inbred C57BL , Protein Carbonylation/drug effects , Retinal Degeneration/physiopathology , Thiobarbituric Acid Reactive Substances/metabolism
6.
Mol Vis ; 14: 2263-71, 2008.
Article in English | MEDLINE | ID: mdl-19065273

ABSTRACT

PURPOSE: Single nucleotide polymorphisms (SNPs) in the tightly linked LOC387715/ARMS2 and HTRA1 genes have been associated with age-related macular degeneration (AMD). We tested whether these SNPs are associated with AMD in Israeli populations, if they underlie variable phenotype and response to therapy in neovascular AMD (NVAMD), and if HTRA1 expression in vivo is associated with its promoter variant. METHODS: Genotyping for the rs10490924 SNP in LOC387715/ARMS2 and the rs11200638 SNP in HTRA1 was performed on 255 NVAMD patients and 119 unaffected controls from Ashkenazi and Sephardic Jewish, and from Arab origins which are the main ethnic groups composing the Israeli population. Genotyping was correlated with phenotype and response to therapy among 143 patients who underwent photodynamic therapy (PDT). HTRA1 mRNA levels in white blood cells (WBCs), measured by quantitative PCR, were correlated with genotype in 27 participants. RESULTS: Both SNPs were in almost complete linkage disequilibrium (D'=0.96-1). Homozygotes for the T allele of rs10490924 had an odds ratio (OR) of 8.6, with a 95% confidence interval (CI) of 3.5-20.8, and homozygotes for the A allele of rs11200638 had an OR of 10.7, with a 95% CI of 3.2-35.7, for having AMD (p<0.00001). There was no association among these SNPs and phenotype or response to PDT. HTRA1 mRNA levels in WBCs were not associated with rs11200638 genotypes. CONCLUSIONS: The rs10490924 SNP in LOC387715/ARMS2 and the rs11200638 SNP in HTRA1 are strongly associated with NVAMD in this Israeli population. These variants do not have a major contribution to the variable phenotype and response to PDT which characterize NVAMD.


Subject(s)
Asian People/genetics , Macular Degeneration/drug therapy , Neovascularization, Pathologic/genetics , Photochemotherapy , Polymorphism, Single Nucleotide/genetics , Proteins/genetics , Serine Endopeptidases/genetics , Aged , Alleles , Case-Control Studies , Demography , Female , Gene Expression Regulation , Gene Frequency , Genotype , High-Temperature Requirement A Serine Peptidase 1 , Humans , Israel , Leukocytes/metabolism , Macular Degeneration/genetics , Male , Phenotype , RNA, Messenger/genetics , RNA, Messenger/metabolism , Serine Endopeptidases/blood
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