Contributions of the superoxide dismutase 1 and zinc finger protein 469 (ZNF469) genes to keratoconus.

Keratoconus (KC) is a multifactorial, progressive, degenerative corneal disorder with an incidence of approximately 1 in 2,000 subjects.

Contributions of VSX1 gene to keratoconus.

Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial degenerative corneal disorder, with incidence of approximately 1 per 2000 of the population. KC follows an autosomal recessive or dominant pattern of inheritance and is, apparently, associated with genes which interact with environmental, genetic and/or other factors. The present report focuses on the VSX1 gene, for which there is general agreement that it is involved in KC and other corneal pathologies, and critically details the evidence for its involvement in KC.

Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome.

To describe a case of bilateral cystoid macular edema in a patient with Dandy-Walker syndrome. An 18-year-old male was referred to our tertiary referral center for evaluation of his decreased visual acuity. Detailed ophthalmic examination and imaging revealed the presence of bilateral cystoid macular edema, which was successfully treated with intravitreal triamcinolone injections (2 mg in 0.05 ml). Recurrence of macular edema developed after a period of approximately four months. This is an unusual ophthalmic manifestation of Dandy-Walker syndrome. Cystoid macular edema should be included in the differential diagnosis of subjects with Dandy-Walker syndrome presenting with decreased vision. The pathogenetic mechanism for the development macular edema in this case is not clear. Intravitreal triamcinolone is an effective treatment, but edema was recurrent in our case. Other approaches (such as oral Acetazolamide or intravitreal Anti-VEGF) have to be considered as well.

The role of membrane-inner retina adherence in predicting simultaneous internal limiting membrane peeling during idiopathic epiretinal membrane surgery.

PurposeTo correlate the frequency and extent of simultaneous inadvertent internal limiting membrane (ILM) peeling during idiopathic epiretinal membrane (ERM) removal with characteristics of ERM adherence demonstrated on pre-operative spectral domain optical coherence tomography (SD-OCT).Patients and methodsThis is a prospective, observational, case series of patients undergoing pars plana vitrectomy for idiopathic ERM. Inner retina-ERM adhesion was categorized as focal, broad or complete in five anatomic locations at macular area based on preoperative SD-OCT findings. The extent of spontaneous ILM peeling was quantified on a scale 0-100% in each of the aforementioned anatomic locations by the operating surgeons who were masked to the OCT characteristics. All operations were recorded with a high definition recording system and the area of simultaneous ILM peel was quantified by a second masked observer. The final extent of spontaneous ILM peel was calculated as the average of the two scores.ResultsThirty consecutive subjects who underwent surgery for idiopathic ERM were included in the study. Evidence of simultaneous ILM peeling was identified in 80.3% of individuals. With regards to the type of ERM-macula adhesion, inadvertent ILM peel was observed in 70% of the patients who pre-operatively showed complete adhesion, in 43% with broad adhesion and in only 21% with focal adhesion (P<0.001). The extent of the spontaneous ILM peel during removal of ERM was also significantly dependent on the type of ERM-inner retina adhesion. Total simultaneous ILM peel was observed in 59% of locations with complete ERM-macula adhesion but only in 22% and 7% of locations with broad and focal adhesion respectively (P<0.001).ConclusionsSimultaneous ILM peel is a frequent occurrence during ERM surgery, especially when there is complete or broad ERM adherence to the macula. The type of ERM-inner retina adhesion represents a valid predictor of the extent of simultaneous ILM peel during removal of ERM. Thorough evaluation of preoperative OCT may be a useful tool in determining a safer, more simplistic strategy in ERM surgery.

Macular hole surgery without prone positioning.

PURPOSE: To investigate the role of vitrectomy without prone posturing in the anatomic and functional outcome of macular hole surgery (MHS). METHODS: Forty-one consecutive eyes of 41 patients with stage II-IV full-thickness macular holes underwent pars plana vitrectomy and 16% C3F8 tamponade. In 25 cases posturing group (P), subjects were instructed to assume prone positioning for 10 days postoperatively, whereas in 16 cases non-posturing group (NP) patients were advised to avoid lying supine but no other posturing instructions were given. Preoperative, intraoperative and postoperative clinical data were collected, with macular hole closure rate and change in LogMAR visual acuity, contrast sensitivity, metamorphopsia, and 25-Visual Function Questionnaire (VFQ-25) being the primary outcome measures. RESULTS: Over a mean follow-up of 4.21.2 months, anatomical hole closure was noted in 22/25 (88%) and 14/16 (87.5%) in groups P and NP respectively. Visual acuity improved by a mean of eight letters and there was no significant difference in the two groups (P=0.724). Similarly, postoperative prone posturing did not have an effect on the final contrast sensitivity, metamorphopsia, and VFQ-25 composite scores (P=0.238, P=0.472, and P=0.87, respectively). However, eyes in group NP developed significantly more severe cataract in the early postoperative period (P=0.02). CONCLUSIONS: Prone posturing following MHS provides no functional or anatomic benefit but it is associated with slower progression of cataract. Combined phacovitrectomy without face down positioning may be considered for all phakic patients undergoing MHS.

The effect of pars plana vitrectomy on cystoid macular oedema associated with chronic uveitis: a randomised, controlled pilot study.

AIM: To evaluate the efficacy of pars plana vitrectomy (PPV) in the management of chronic uveitic cystoid macular oedema (CMO). METHODS: A prospective, interventional, randomised, controlled, pilot study. 23 eyes of 23 patients with CMO secondary to chronic intermediate or posterior uveitis unresponsive to medical treatment were randomised into a surgical (group S) or medical group (group M). 12 patients in group S underwent PPV as opposed to 11 patients in group M who received systemic corticosteroid and/or immunosuppressive treatment during the study period. The primary outcome measures of the study were change in visual acuity and angiographic appearance of CMO at 6 months. RESULTS: Mean visual acuity in group S improved significantly from 1.0 (0.62) at baseline to 0.55 (0.29) at 6 months following vitrectomy (p = 0.011), with five (42%) eyes reaching vision of 20/40 or better. Conversely, mean visual acuity in group M improved only marginally by 0.03 (0.27) (p = 0.785). CMO after vitrectomy was angiographically improved in four (33%) eyes, remained unchanged in seven (58%) eyes, and deteriorated in one (8%) eye. In the medical group, fluorescein leakage decreased in one eye, did not alter in four eyes, and deteriorated in two eyes. CONCLUSION: PPV for macular oedema secondary to chronic uveitis despite angiographic improvement in only one third of the patients, seems to have a significant beneficial effect on visual function. This study provides enough evidence to justify a large scale trial which would define the role of vitrectomy in uveitic macular oedema.

Visual function and quality of life following vitrectomy and epiretinal membrane peel surgery.

AIM: To investigate the effect of epiretinal membrane (ERM) peel on patients' health related quality of life (HR-QOL) and to explore the association between self reported HR-QOL and conventional measures of visual function. METHODS: The National Eye Institute 25 Item Visual Function Questionnaire (VFQ-25) and the 36 Item Short-Form Health Survey (SF-36) were self administered by 20 patients before and 4 months following surgery. Preoperative and postoperative data collected included logMAR near and distant visual acuity (VA), contrast sensitivity, and metamorphopsia. Questionnaire scores were compared preoperatively and postoperatively and their correlation with traditional methods of visual function evaluation analysed. RESULTS: Postoperatively there was no significant improvement in mean logMAR VA. However, eight (40%) subjects improved by two or more ETDRS lines and nine eyes (45%) reached a final VA of 6/18 or better. Metamorphopsia decreased significantly (p = 0.019) and there was significant improvement in VFQ-25 mean scores for the general vision (p = 0.03), distance activities (p = 0.05), and composite score (p = 0.03). Baseline binocular VA was significantly correlated with baseline VFQ-25 composite score (r = 0.631, p = 0.004). CONCLUSIONS: ERM surgery appears to improve patients' subjective perception of visual function as indicated by higher composite scores in VFQ-25 and improved metamorphopsia in the absence of significant improvement in mean logMAR VA.

Bilateral lens subluxation associated with atopic eczema.

PURPOSE: Ectopia lentis remains a therapeutic challenge for ophthalmologists. It classically presents with a preceding history of blunt or penetrating ocular trauma, or it may be associated with other ocular disorders such as congenital glaucoma and aniridia, or concomitant hereditary systemic diseases such as Marfan syndrome and homocystinuria. METHODS: Case report. RESULTS: The authors describe a previously unreported mechanism of ocular trauma associated with continuous eye rubbing, resulting in bilateral recurrent subluxation of both intraocular lens and crystalline lens. CONCLUSIONS: It is useful for the ophthalmologist to be aware of this uncommon cause of ectopia lentis, since early advice and appropriate medical or surgical intervention may prevent more severe, sight-threatening complications.

Effect of laser photocoagulation treatment for diabetic macular oedema on patient's vision-related quality of life.

PURPOSE: To evaluate the effect of laser photocoagulation for diabetic macular oedema (DME) on patients' Vision Related Quality Of Life (VR-QOL) and to investigate associations between changes in self reported VR-QOL and changes in visual acuity following application of laser treatment. METHODS: Prospective cohort study of 55 subjects who underwent laser treatment for DME. Eligible patients with no history of previous laser photocoagulation self-administered the 51-item field-test version of the National Eye Institute Visual Function Questionnaire (NEI-VFQ) prior to treatment and 3 months following the last session of laser application. Visual acuity was measured by means of the Early Treatment of Diabetic Retinopathy (ETDRS) chart. Multi-item scales rating different aspects of VR-QOL were compared prior and after photocoagulation and the change in questionnaire's composite score following treatment was correlated to change in visual acuity and other determinants previously reported as risk factors in the diabetic population. RESULTS: Scale scores associated with general vision, near vision, distance vision, peripheral vision, vision-specific social functioning, vision-specific mental health, expectations for visual function and dependency due to vision were significantly improved following laser treatment. Multivariate models revealed that improvement of the NEI-VFQ composite score was significant in subjects younger than 65 years of age (p = 0.04) who received more laser burns (p = 0.02) and had worse vision-related QOL prior to laser treatment as expressed by the baseline NEI- VFQ composite score (p = 0.03). There was no statistically significant association between change in the composite score following laser treatment and stage of diabetic retinopathy, duration of diabetes or laser settings used during photocoagulation. CONCLUSIONS: Photocoagulation for DME has a beneficial effect on patients' subjective perception of visual function. The use of vision-targeted health status questionnaires in conjunction with the clinical examination appears to provide a more comprehensive overview of individuals' daily well- being following laser treatment.

Transpupillary thermotherapy for the treatment of subfoveal choroidal neovascularization associated with age-related macular degeneration.

OBJECTIVE: To evaluate the efficacy of transpupillary thermotherapy (TTT) for the treatment of choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD). DESIGN: Prospective, non-randomized, non-masked, case-selected series. METHODS: All patients with subfoveal CNV due to AMD and initial visual acuity (VA) between 6/9 and 6/60 were offered the opportunity to undergo TTT. Recruited subjects were treated using a diode laser (810 nm) with a beam size of 1.2-3.0 mm and power settings of 460-1200 mW. Treatment was applied for 60 seconds in a subthreshold manner. MAIN OUTCOME MEASURES: Differences in VA and changes in the angiographic appearance of CNV. RESULTS: Thirty-one occult/predominantly occult and five classic/predominantly classic membranes were treated with TTT and were followed-up for a mean of 6.0 +/- 1.2 months. Following an average of 1.5 +/- 0.7 (range 1-4) laser sessions, VA remained stable ( -1 to +1 Snellen line) in 24 (66.7%) eyes, improved by > 1 line in two (5.6%) eyes and decreased significantly (> or = 2 Snellen lines) in 10 (27.8%) eyes. Angiographically confirmed closure of CNV was detected in 22 (61.1%) patients. Membranes persisted in 11 (30.6%) eyes and recurred in three (8.3%) eyes. There was no association between reduction, elimination or persistence of angiographic leakage of CNV and change in VA after treatment (p = 0.347). CONCLUSIONS: Transpupillary thermotherapy may be effective at preserving vision and reducing CNV leakage in a number of patients with exudative AMD. Further studies are required to compare TTT with the natural course of subfoveal CNV and alternative treatment options.

Postoperative intraocular pressure spikes: the need to treat.

Raised intraocular pressure (IOP) still holds pride of place as the principal risk factor for developing glaucoma. The detrimental effects of chronically elevated IOP on the optic disc are well known. However, the clinical significance of acutely raised IOP is less certain. Transient acute elevations of intraocular pressure (IOP spikes) occur following many surgical and laser procedures. Cataract extraction, glaucoma surgery, pars plana vitrectomy with fluid air exchange, Nd-YAG capsulotomy, or peripheral iridotomy, and laser trabeculoplasty all have been reported to be associated with variable IOP spikes in the early postoperative period. There is considerable diversity of opinion concerning how these IOP spikes should best be managed. We have reviewed the nature and quality of the available experimental and clinical data relating to IOP spikes and we offer some broad, general guidelines for their clinical management.

Long term outcome of secondary glaucoma following vitreoretinal surgery.

PURPOSE: To determine the long term outcome of secondary glaucoma following retinal reattachment surgery. METHOD: A longitudinal retrospective study was undertaken of the medical records of patients referred to the Glaucoma Service at Moorfields Eye Hospital following retinal reattachment surgery. The main outcome measures were final intraocular pressure (IOP), progression in cup:disc ratio, and final visual acuity outcome. RESULTS: A total of 70 eyes of 70 patients (41 males and 29 females) were identified and included in the analysis. Mean increase of IOP 2-3 weeks following the first vitreoretinal procedure was 6 (SD 3) mm Hg. After a mean follow up of approximately 4 years the mean IOP had significantly decreased from 33 (SD 10) to 16 (SD 8) mm Hg (p<0.001). The visual outcome of eyes with final IOP less than 6 or greater than 21 mm Hg was significantly worse compared with those eyes with a normal (6-21 mm Hg) range of pressure (p = 0.022 and p = 0.009 respectively). Despite the effective control of IOP in the majority of patients during the follow up period, there was mild progression of the mean vertical cup:disc ratio from 0.6 (SD 0.2) to 0.7 (SD 0.2) (p<0.001). CONCLUSION: Secondary glaucoma is a major complication following retinal reattachment surgery. Medical treatment is successful in lowering IOP in most patients. In persisting cases surgical treatment is very effective, however it can be associated with an increased risk of postoperative hypotony. Despite apparently adequate IOP control there may be progressive cupping of the optic disc.

Visual perception during phacoemulsification cataract surgery under subtenons anaesthesia.

AIM: The aim of this study was to record the subjective visual experience of patients during phacoemulsification and intraocular lens implantation under subtenons anaesthesia. METHODS: Prospective, nonrandomised, cohort, postoperative questionnaire based study. Patients selected underwent routine phacoemulsification and intraocular lens implantation under regional subtenons anaesthesia. chi(2) and Fisher's exact tests (two-tail) were used to evaluate the data. RESULTS: A total of 104 patients were selected, 38 (36.5%) were male and 66 (63.5%) were female. The mean age of patients was 74.0+/-8.8 years. In all, 87.5% saw light during the operation with 9.6% finding this painful. Photophobia was highest among younger patients (P=0.002). Coloured lights were seen by 56.7% and 13.5% found the visual experience frightening. Frightening visual experiences were significantly associated with the perception of colour (P=0.005) and photophobia (P=0.003). A volume of anaesthetic greater than 4 m was associated with a significant reduction in anxiety as a result of the visual experience (P=0.003). None of the other visual phenomena recorded were associated with a frightening visual experience. CONCLUSIONS: Patients undergoing regional anaesthesia experience a wide variety of visual sensations during cataract surgery. Perception of colour and volumes of anaesthetic less than 4 m appear to be associated with the visual experience being more frightening. Detailed preoperative counselling is mandatory. It should include comprehensive information about visual perception during the procedure relieving the patients from unnecessary distress.