首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 15 毫秒
1.

Objective

To identify the disease-causing variants in 2 families with autosomal recessive inherited retinal dystrophies (IRDs) and to characterize phenotypic variability across the affected family members.

Design

Exome sequencing and ophthalmic clinical examination study.

Participants

Six members from 2 consanguineous Jordanian families with IRD.

Methods

Ophthalmic examinations and whole-exome sequencing (WES) were performed to identify IRD-causing variants in affected individuals from each family, followed by segregation analysis of candidate variants in affected and unaffected family members by Sanger sequencing.

Results

We identified 2 different homozygous deletion variants in CERKL in each family: a novel pathogenic variant, c.450_451delAT, and a known variant, c.1187_1188delTG. Both variants co-segregated with the disease in all affected family members. The resulting phenotypes further supported that CERKL is associated with cone–rod dystrophy (CRD) rather than retinitis pigmentosa (RP), as originally established.

Conclusion

Our study expands the genotypic spectra of CERKL variants, providing insights into the relevant pathogenesis of RP/CRD. We also confirm that the WES approach is a valuable tool for the molecular diagnosis of retinopathies.  相似文献   

2.

Objective

To describe a modification of trans-conjunctival, lower eyelid retractor advancement to correct tarsal ectropion.

Design

A retrospective case review.

Participants

Consecutive patients with lower eyelid tarsal ectropion.

Methods

Cases of lower eyelid tarsal ectropion, surgically corrected by advancement of inferior retractor to the lower border of tarsus via a transconjunctival approach, were identified. Lateral tarsal strip was also performed simultaneously in all cases.

Results

Twenty patients (25 eyelids) were included in this study. There were 19 primary lower eyelid tarsal ectropion and 6 recurrent tarsal ectropion. Complete resolution of tarsal ectropion was achieved in all patients postoperatively. Mean follow-up was 8.4 months (range 1–36 months). There were no cases of overcorrection, recurrent ectropion, suture abscess, wound dehiscence, or inferior fornix shortening after surgery.

Conclusions

Visualization of the lower eyelid retractor (white-line) and advancement to the inferior border of tarsus through a transconjunctival approach is effective in correcting both primary and recurrent cases of tarsal ectropion. This can be performed through a small conjunctival incision in the middle third of the lower eyelid, without the need for any excision of tissue or suture loop tie on the skin surface.  相似文献   

3.

Objective

To report the intraoperative surgical outcomes and safety of femtosecond laser–assisted cataract surgery (FLACS) during surgeon learning curve and compare those outcomes with those of conventional phacoemulsification in a Canadian public hospital setting.

Design

Retrospective chart review.

Participants

FLACS and phacoemulsification patients at Brandon Regional Health Centre, Brandon, Manitoba, Canada.

Methods

Intraoperative surgical outcomes and safety (rates of intraoperative complications and phacoemulsification parameters) were compared among 3 groups: the first consecutive 197 cases using femtosecond laser (FSL) pretreatment to ultrasound phacoemulsification in cataract surgery (group 1; early FLACS), the second consecutive 165 cases using FSL (group 2; later FLACS), and 80 consecutive conventional cataract surgery cases (group 3; conventional phaco).

Results

There was a statistically significant difference for phacoemulsification parameters (actual phaco time [APT], effective phaco time [EPT], and ultrasound average) among the 3 groups (all p-values < 0.05). The mean phacoemulsification parameters (APT and EPT) for the early FLACS and the conventional phaco groups were significantly longer than those for the later FLACS group (p < 0.05). The mean FSL time for the early FLACS group was significantly longer than that for the later FLACS group. There was no statistical difference among the rates of intraoperative complications (suction breaks, capsular tags, FSL-induced miosis, posterior capsular tears, and anterior vitrectomy) for the 3 groups.

Conclusions

During the learning curve, the intraoperative outcomes and safety of FLACS are comparable to the conventional phacoemulsification technique. After the learning curve, FLACS is significantly superior to conventional surgery in all measured phacoemulsification parameters.  相似文献   

4.
5.

Objective

To determine the effectiveness of a macular buckle procedure without vitrectomy for the treatment of symptomatic myopic macular schisis.

Design

Retrospective case series.

Participants and methods

All patients who underwent surgery with placement of an NPB macular buckle (AJL Ophthalmic, Miñano, Álava, Spain) without vitrectomy for symptomatic myopic macular schisis were included. Visual acuity and anatomical outcomes based on optical coherence tomography (OCT) were reviewed.

Results

Eight consecutive eyes from 7 patients were included. Six of the 7 patients were female and the mean age was 59 ± 6 years (range, 49–66 years). The mean follow-up duration was 11 ± 7 months (range, 3–23 months). Mean preoperative axial length was 29.54 ± 1.28 mm (range, 27.88–31.96 mm). Mean preoperative best-corrected visual acuity (BCVA) was 0.71 ± 0.29 logMAR (Snellen equivalent 20/103); mean postoperative BCVA was 0.46 ± 0.44 (Snellen equivalent 20/58; p = 0.19) and 87.5% of patients maintained or improved vision. Pre- and postoperative OCT images are included and discussed within. Preoperative ellipsoid zone status and postoperative central macular buckle indentation appear to be important in visual outcomes. Two patients required a buckle repositioning for persistent schisis. One patient developed a macular hole postoperatively that resolved with subsequent vitrectomy. There were no other complications.

Conclusions

The macular buckle is an effective and promising therapeutic option for myopic macular schisis.  相似文献   

6.

Objective

We hypothesized that the ocular dominance associated with brain asymmetry would influence macular structure. We assessed the structural asymmetry of the macula by ocular dominance.

Methods

A total of 144 patients with no ophthalmic abnormalities were examined. After classifying eyes as dominant or non-dominant using the hole-in-a-card test, the macular ganglion cell inner plexiform layer and the macular thickness were measured in both groups using spectral domain optical coherence tomography, and we sought associations between ocular dominance and retinal thickness.

Results

Ocular dominance was more frequently found in right eyes than in left eyes (68.75% vs 31.25%, respectively; p < 0.001). Using conditioned logistic regression, the right eye and the temporal-to-nasal retinal thickness ratio of the macular ganglion cell inner plexiform layer were selected as a final model for the determination of ocular dominance (p < 0.001, p = 0.013 respectively).

Conclusions

Macular vertical asymmetry was associated with ocular dominance. The macular structure and ocular dominance associated with visual cortex lateralization have functional and structural relationships.  相似文献   

7.

Objective

To compare relative efficiency and chatter of high aspiration and vacuum settings.

Design

In vitro laboratory study.

Methods

The John A. Moran Eye Center Laboratories, University of Utah, Salt Lake City, Utah, was the study setting. Porcine nuclei were fixed in formalin and cut into 2.0 mm cubes. Lens cubes were phacoemulsified with Balanced tips at 50 and 60 mL/min aspiration with 500, 600, and 700 mm Hg vacuum with monitored forced infusion. Experiments were conducted at constant torsional power, longitudinal power, and intraocular pressure.

Results

No significant change was observed in average chatter across each tested setting. Increasing aspiration rate did not increase efficiency. Increasing vacuum up to 600 mm Hg from 500 mm Hg did not change efficiency. However, increasing vacuum to 700 mm Hg decreased efficiency (p = 0.008 for 500 mm Hg vs 700 mm Hg and p = 0.05 for 600 mm Hg vs 700 mm Hg). Increasing aspiration and increasing vacuum did not significantly improve chatter.

Conclusions

Increasing aspiration above 50 mL/min did not improve phacoemulsification efficiency. Increasing vacuum settings to 700 mm Hg decreases efficiency. Chatter did not significantly change with increasing aspiration and vacuum settings.  相似文献   

8.

Objective

To evaluate the effects of Behçet’s syndrome (BS) on tear osmolarity and tear film function tests.

Methods

Thirty patients with BS and 41 control subjects were enrolled in this study. Tear osmolarity was measured with an osmometer. Tear film function tests involved corneal fluorescein staining, tear film breakup time (TBUT), Schirmer’s 1 test, and an Ocular Surface Disease Index (OSDI) Questionnaire.

Results

The patients with BS had significantly higher tear osmolarity (p = 0.000) and OSDI scores (p = 0.000) than the healthy controls. The TBUT (p = 0.000) and Schirmer’s 1 test (p = 0.033) results were significantly lower in the BS group, but the fluorescein staining results were not statistically different. A significant correlation was found between tear osmolarity, OSDI, and the activity of BS.

Conclusions

BS is associated with hyperosmolarity of the tear film, which can damage the ocular surface and affect tear functions.  相似文献   

9.

Objective

To study the relationship between mean platelet volume (MPV) and central retinal vein occlusion (CRVO) in hypertensive patients.

Design

Hospital-based, retrospective, case control design.

Participants

The sample group consisted of 100 patients with a known history of hypertension and who are diagnosed with CRVO. The control group consisted of 100 age and sex-matched patients with the sample group and who had a sole history of hypertension without any other systemic diseases and the best corrected visual acuity of 20/20 in both the eyes.

Methods

CRVO was diagnosed based on clinical examination. All cases and control subjects underwent complete ocular examination. MPV, platelet count, hemoglobin, white blood cell count and hematocrit parameters were recorded for both groups. The data of patients with CRVO was compared with the control subjects. Confidence interval was set at 95% with a P-value of < 0.05.

Results

MPV was significantly higher among hypertensive cases diagnosed with CRVO when compared with the hypertensive control group (8.059 ± 0.016, 7.442 ± 0.15 fL respectively; P < 0.001). The platelet count was lower in the control group, but the difference was not significant. The systolic blood pressure was significantly higher in the sample group.

Conclusions

Our results demonstrated that MPV values were significantly higher in patients with CRVO, suggesting that increased MPV may contribute to the development of CRVO.  相似文献   

10.

Objective

Orbital Rhabdomyosarcoma is a highly malignant tumor predominantly affecting children. Our study adds more understanding of this tumor to ophthalmologists from the clinicopathological, radiological and genetic aspects.

Design

A retrospective clinicopathological and radiological study of ocular rhabdomyosarcoma with genetic profiling.

Participants

All the cases with confirmed tissue diagnosis of orbital rhabdomyosarcoma presenting at a tertiary eye hospital in Riyadh, Saudi Arabia during the period 1985-2015.

Methods

Charts and histological slides of 26 patients were reviewed. DNA was extracted from paraffin-embedded biopsies and genotyping was performed to detect chromosomal abnormalities and Copy-number variations regions.

Results

18 males and 8 females were included with a mean age at presentation of 6.9 years (SD of 4.4). Proptosis and globe displacement were the commonest clinical presentations. Embryonal histopathological type was the commonest (73.1%) with superior orbital involvement (p = 0.024). Using magnetic resonance imaging, the embryonal type showed higher Apparent diffusion coefficient (ADC) value compared to the alveolar type (p = 0.98). Genetic profiling showed Copy-number gain in regions spanning PAX3, DDIT3, Gli, Wnt6 genes. DICER1 gene implication was found in 9 sporadic cases.

Conclusion

Rhabdomyosarcoma is rare and occurs with a mean age of 7 years, predominantly among males. The commonest embryonal type is significantly correlated with superior orbital involvement. Radiologically, it shows an ADC of 0.67-0.09 × 10-3 mm2/s. (p = 0.98). The gain in PAX3, DDIT3, Gli1, Wnt6 genes is a new finding while the DICER1 gene implication in the absence of familial hereditary carcinoma is another interesting finding.  相似文献   

11.

Objective

To assess the impact of presenting visual impairment (PVI) on the utilization of formal home care services in Canada. Formal home care services were defined as services provided by professionals. Presenting visual impairment was self-reported impaired vision.

Design

Cross-sectional survey.

Participants

Respondents to the Canadian Community Health Survey ? Healthy Aging 2008/2009 (n = 30 865).

Methods

Self-reported utilization of formal home care services were compared by PVI status and sociodemographic groups.

Results

Overall, 23.9% of Canadians aged 45+ years with PVI utilized home care services versus 4.8% of those without (p < 0.0001). Canadians aged 65+ years (11.5%) used home care services more frequently than those aged 45–64 years (2.3%; p < 0.001). Among Canadians aged 65+ years, Caucasians (11.8%) were more frequent users than non-Caucasians (2.9%; p = 0.0002). Among Caucasians aged 65+ years, higher levels of utilization were documented in seniors with PVI (32.3%) versus those without (11.0%; p < 0.0001), females (14.5%) versus males (8.5%; p < 0.0001), seniors without a partner (18.6%) versus those with a partner (7.9%; p < 0.001), and seniors with incomes under the 20th percentile (14.7%) versus their peers with incomes ≥20th percentile (9.8%; p < 0.0001). Seniors with PVI were 30% more likely than those without to utilize home care services after adjusting for confounding effects (prevalence ratio = 1.3, 95% CI 1.1–2.5). Among nonusers of home care services, unmet needs for home care services were reported by 10.0% of Caucasian seniors with PVI versus 3.1% of those without PVI (p < 0.0001).

Conclusions

Canadians with visual impairment are more likely to utilize formal home care services compared to those without.  相似文献   

12.
13.

Objective

Several Canadian health authorities have defunded preoperative cataract history and physical examinations performed by general practitioners. While these authorities suggest that such decisions are evidence-based, we are unaware of reviews addressing this topic, nor have health authorities been forthcoming with evidence used in their decision-making processes. The objective of this study is to perform a comprehensive review of the literature regarding the value of preoperative histories and physical examinations in cataract surgery.

Design

Systematic review.

Methods

The following databases were searched: PubMed, MEDLINE, Cochrane Library, Google Scholar, Web of Science, EMBASE, CINAHL, and BIOSIS Previews. Only higher-level forms of evidence were assessed, including randomized controlled trials, cohort, and case-control studies. Two reviewers independently assessed titles and abstracts for concordance with inclusion criteria. Disagreements between authors were resolved by discussion.

Results

We identified 3 articles that met our inclusion criteria: two prospective and one retrospective cohort studies. These articles suggest traditional preoperative histories and physical examinations could be replaced by a health questionnaire (Jastrzebski et al. and Reeves et al.) or eliminated altogether (Alboim et al.).

Discussion

Scientific literature presently contains 3 studies suggesting that preoperative histories and physical examinations could be modified or eliminated. However, methodological weaknesses and data analysis derived from these studies suggests defunding preoperative medical examination may be premature.

Conclusions

While finding efficiencies in medical care is admirable, physicians should be cautious in accepting recommendations that reduce checks ensuring perioperative safety. Further studies of better methodological quality should be completed to clarify the present evidence.  相似文献   

14.

Objective

To analyze the relationship among the presence of lacrimal sac mucus retention, the vertical size of the lacrimal sac, and the duration of tearing symptom in patients with nasolacrimal duct obstruction (NLDO).

Design

Retrospective case series.

Participants

We reviewed the medical records of 473 patients (664 eyes) who underwent external dacryocystorhinostomy for primary NLDO.

Methods

The information about the presence of lacrimal sac mucus retention and vertical size of the lacrimal sac lumen was collected intraoperatively. The vertical size of the lacrimal sac was classified into 3 groups: small (<5 mm), medium (5–10 mm), and large (>10 mm). The relationship between the lacrimal sac size, presence of mucus retention, and duration of tearing was analyzed.

Results

Of the 664 eyes, 138 had a small lacrimal sac, 199 had a medium lacrimal sac, and 327 had a large lacrimal sac. The distribution of the lacrimal sac size groups differed significantly between the eyes with (n = 245) and without (n = 419) mucus retention (p < 0.001). Among all the subjects of each lacrimal sac size group, there was no significant difference in the duration of symptoms (p = 0.176). However, in patients without mucus retention, the symptom duration in the small lacrimal sac group was significantly longer than that in the large lacrimal sac group (p = 0.017).

Conclusions

In cases with mucus retention, a small lacrimal sac is rare. In cases without mucus retention, the duration of tearing symptom was significantly longer in small lacrimal sac group.  相似文献   

15.

Objective

To evaluate the screening rates for diabetic pediatric patients in a regional center according to the Canadian Diabetes Association guidelines.

Design

Retrospective study.

Participants

The study consisted of 82 patients seen in the pediatric diabetes clinic at Peterborough Regional Health Center.

Methods

Medical records for all pediatric patients with diabetes were reviewed between July 2016 and February 2017. Parents and children were surveyed on details of their ocular examination history. Logistic regression analysis was conducted to evaluate if any characteristics were associated with noncompliance to Canadian Diabetes Association guidelines.

Results

The average age of the patients in our study was 12 years old with a mean duration of diabetes of 4 years. The majority of patients had type 1 diabetes (n = 79/82, 96.3%) and the mean HbA1c level was 9.1. Only 16 patients (19.5%) adhered to the Canadian Diabetes Association guidelines for diabetic retinopathy screening. Of the 66 patients who did not comply with the guidelines, 65 (98.5%) had received more exams than recommended under their respective screening guidelines. All dilated eye examinations were normal, and no diabetic retinopathy was found. Statistical analysis revealed that the duration of diabetes may be a predicting factor of noncompliance to the guidelines (–0.2488, 95% CI –0.505, –0.042).

Conclusions

This study shows a low compliance rate with screening guidelines in our diabetic pediatric population. Of interest, the low compliance in this cohort was related to excessive eye exams. This study also found a low incidence rate of diabetic retinopathy despite poor management of diabetes, similar to previous studies of pediatric diabetic eye disease.  相似文献   

16.

Objective

To evaluate the impact of intravitreal (IV) and intraperitoneal (IP) astaxanthin (AST) injections on neovascular development (ND), retinal morphology, and apoptotic activity in a C57BL/6J mouse model with hyperoxia-induced retinopathy (HIR).

Design

C57BL/6J mouse model.

Methods

Two negative control groups (n = 6 each; one of which received IV sterile dimethyl sulfoxide [DMSO]) of C57BL/6J-type mice were exposed to room air. The HIR groups included 36 C57BL/6J-type mice exposed to 75% ± 2% oxygen from postnatal day (PD) 7 to PD 12. On PD 12, these mice were randomized into 6 groups (n = 6 each): 2 HIR control groups (one of which received IV-DMSO), 2 IV-AST groups (10 and 100 µg/mL), and 2 IP-AST groups (0.5 and 5 mg/kg). We measured ND by counting neovascular tufts in cross sections and examined histological, ultrastructural changes via light and electron microscopy. Apoptosis was detected using terminal deoxynucleotidyl transferase–mediated nick end-labeling.

Results

No ND was detected in the negative control groups. ND levels were not significantly different between high- and low-dose AST for either means of administration. However, ND levels were significantly lower in the AST groups, regardless of delivery, compared to the control groups. The means of delivery (IP versus IV) also yielded significant differences in ND. The incidence of mitochondrial dysmorphology and apoptosis were lower in groups receiving AST.

Conclusions

AST seems to suppress ND and has anti-apoptotic activity in the HIR mouse model.  相似文献   

17.

Objective

To report indications for eye removal, histopathological diagnosis, and surgical trends in enucleation versus evisceration over a 23-year period.

Design

Retrospective consecutive case series.

Participants

All patients undergoing enucleation or evisceration at the Royal Alexandra Hospital in Edmonton, Canada, between January 1994 and December 2016.

Methods

Demographic information was recorded and archived hospital charts were accessed and reviewed for clinical diagnosis, histopathological diagnosis, and the type of implant used. Univariate and multivariable logistic regression analysis was performed. The study cohort was divided into 2 time periods by separating the first 10 years of the study period (1994–2004 inclusive) from the rest of the study time period (2005–2016 inclusive).

Results

A total of 786 patients with a mean age (±?SD) of 52 ±?23 years were included. The most common clinical diagnosis was blind painful eye (56%) followed by intraocular tumour (23%). Corresponding pathological examination of specimens revealed chronic inflammatory change (46%) and intraocular tumour (25%). Eyes with active infection were more likely to be eviscerated (odds ratio: 4.67; p?<?0.001) when compared to other diagnostic groups, and all eyes diagnosed with intraocular tumours were enucleated. While most eyes in the study were enucleated, the proportion of eyes eviscerated increased over the study period (p?=?0.010) from 8% between 1994–2004 to 14% between 2005–2016.

Conclusions

While enucleation was performed more commonly overall, the incidence of evisceration increased throughout the study period. There were no instances of occult intraocular tumour in patients who were eviscerated.  相似文献   

18.

Objective

To identify factors associated with secondary surgical intervention after glaucoma filtration surgery.

Design

Population-based retrospective cohort.

Methods

Patient records with billing claims for a primary glaucoma filtration surgery occurring between April 2003 and March 2015 were identified. Each identified record was examined for instances of secondary glaucoma surgeries within the patient’s first postoperative year. Baseline characteristics of patients who required secondary surgical intervention were compared with those who did not. A multivariable Cox proportional hazards model was used to calculate hazard ratios.

Results

Within a cohort of 10,097 patients, 349 (3.46%) underwent a secondary surgical intervention within the first postoperative year. Interventions were less frequent after surgeries that included an indwelling drainage device (HR=0.58 95% CI, 0.37-0.89), phacoemulsification (HR=0.33, 0.21-0.52), or both (HR=0.09, 0.03-0.31). Patients with preoperative aminoglycoside and mydriatic exposure had significantly increased risk of secondary surgical intervention (HR=3.19, 1.89-5.36) and (HR=2.32, 1.49-3.61). Patients who underwent surgery on their contralateral eye experienced secondary surgical interventions more frequently: 7.44 per 10,000 person-days (versus 1.18 per 10,000 person-days, p < 0.0001). No significant differences in the rates of secondary surgical intervention were observed for patients taking different classes of glaucoma medications or those exposed to higher amounts of benzalkonium chloride.

Conclusions

In Ontario, the overall rates of secondary surgical interventions in the first postoperative year are low but significantly higher in certain patient populations. Further work is required to address the higher rate of secondary surgical intervention in patients with a history of certain perioperative eye drop medications and those who require sequential-bilateral procedures.  相似文献   

19.

Objective

Little is known about how low vision services by ophthalmologists are being provided. Here, we analyze the patterns of provision and utilization of vision rehabilitation services in Ontario, Canada.

Design

Retrospective population-based study between 2009 and 2015.

Participants

Ophthalmologists (n = 92) who billed for vision rehabilitation services through the Ontario Health Insurance Plan in Ontario and the patients (n = 8949) who received these services.

Methods

Billing data for low vision services (2009–2015) was received from Ontario Health Insurance Plan. Data were analyzed to describe patient demographics (age, sex, geographic distribution, number, and type of visits) and service provider information (geographic location, number of years providing services, and number of services per year).

Results

It is estimated that ≤ 5% of patients with low vision in Ontario accessed these vision rehabilitation services by ophthalmologists. The majority of these patients were females (61%) and > 60 years old (79%). While patient and provider geographic distributions overlapped in the areas with largest patient populations, many regions lacked services. The majority of patients (71%) made only one vision rehabilitation visit. Nine providers practiced low vision for 7 years, while 43 provided services for only 1 year. In 2015, the most common diagnostic service provided to low vision patients was Optical Coherence Tomography of the retina and the most common therapeutic service was intravitreal for wet age-related macular degeneration.

Conclusion

Although low vision services increased between 2009 and 2015, there were differences in ability to access care based on age, sex, and geographic location.  相似文献   

20.

Objectives

To investigate the outcomes for correction of involutional lower eyelid entropion by wedge resection of the tarsus combined with the modified Hotz procedure.

Design

Retrospective study.

Participants

Patients with lower eyelid involutional entropion that was surgically repaired by wedge resection of the tarsal plate combined with the modified Hotz procedure.

Methods

In a consecutive series of 43 patients with involutional lower eyelid entropion, wedge resection combined with the modified Hotz procedure was performed with an average follow-up period of 29.6 months (range, 6–62 months).

Results

Among the patients, 93% had an excellent outcome within the follow-up period. For one patient, the outcome of both eyes was poor. For another patient, incision dehiscence of the eyelid margin in one eye occurred after the stitches were removed. The incision was sutured again, and it healed well. One patient complained of foreign body sensation in one eye after removal of the skin stitches. The complaint was resolved after wearing a corneal contact lens. No other significant complications occurred.

Conclusions

In our clinic, tarsal plate wedge resection combined with the modified Hotz procedure has been highly effective for correction of involutional lower eyelid entropion. Although this approach does not directly address lateral canthal tendon laxity, it does preserve the eyelid in case there is a future need for reconstruction due to ocular surface disease or trauma. Thus, wedge resection of the tarsal plate combined with modified Hotz procedure is a safe and effective method for involutional lower eyelid entropion.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号