WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.

OBJECTIVE: To evaluate the pattern of vision loss and genotype-phenotype correlations in WFS1-associated optic neuropathy (WON). DESIGN: Multicenter cohort study. METHODS: The study involved 37 patients with WON carrying pathogenic or candidate pathogenic WFS1 variants. Genetic and clinical data were retrieved from the medical records. Thirteen patients underwent additional comprehensive ophthalmologic assessment. Deep phenotyping involved visual electrophysiology and advanced psychophysical testing with a complementary metabolomic study. MAIN OUTCOME MEASURES: WFS1 variants, functional and structural optic nerve and retinal parameters, and metabolomic profile. RESULTS: Twenty-two recessive and 5 dominant WFS1 variants were identified. Four variants were novel. All WFS1 variants caused loss of macular retinal ganglion cells (RGCs) as assessed by optical coherence tomography (OCT) and visual electrophysiology. Advanced psychophysical testing indicated involvement of the major RGC subpopulations. Modeling of vision loss showed an accelerated rate of deterioration with increasing age. Dominant WFS1 variants were associated with abnormal reflectivity of the outer plexiform layer (OPL) on OCT imaging. The dominant variants tended to cause less severe vision loss compared with recessive WFS1 variants, which resulted in more variable phenotypes ranging from isolated WON to severe multisystem disease depending on the WFS1 alleles. The metabolomic profile included markers seen in other neurodegenerative diseases and type 1 diabetes mellitus. CONCLUSIONS: WFS1 variants result in heterogenous phenotypes influenced by the mode of inheritance and the disease-causing alleles. Biallelic WFS1 variants cause more variable, but generally more severe, vision and RGC loss compared with heterozygous variants. Abnormal cleftlike lamination of the OPL is a distinctive OCT feature that strongly points toward dominant WON.

BILATERAL INTRAOCULAR HEMORRHAGE SECONDARY TO CEREBRAL VENOUS SINUS THROMBOSIS.

PURPOSE: To report a case of bilateral intraocular hemorrhage secondary to cerebral venous sinus thrombosis with no associated intracranial hemorrhage. METHODS: Case report. RESULTS: A 32-year-old Asian gentleman presented with left reduced vision as a result of a left subhyaloid macular hemorrhage associated with severe headache. Right retinal hemorrhages were also present. Magnetic resonance imaging and computed tomography brain imaging demonstrated cerebral transverse venous sinus thrombosis. CONCLUSION: Intraocular hemorrhage has previously been described in association with intracranial hemorrhage and in particular subarachnoid hemorrhage (Terson syndrome). We describe a similar clinical picture in the context of cerebral venous sinus thrombosis with no associated intracranial hemorrhage.

The Effect of Multispot Laser Panretinal Photocoagulation on Retinal Sensitivity and Driving Eligibility in Patients With Diabetic Retinopathy.

IMPORTANCE: Panretinal photocoagulation (PRP) for proliferative diabetic retinopathy (PDR) may lead to peripheral field loss that prevents driving. Anti-vascular endothelial growth factor agents are proposed as treatments for PDR that spare peripheral vision. If multispot lasers cause less visual field loss, continuing to perform PRP may be justified. OBJECTIVE: To assess the effect of bilateral multispot laser PRP on retinal sensitivity and driving visual fields in PDR. DESIGN, SETTING, AND PARTICIPANTS: This prospective nonrandomized interventional cohort analysis performed at a tertiary referral center included 43 laser-naive patients with PDR that required bilateral PRP. Participants were recruited from June 27, 2012, to October 14, 2013. At baseline and 6-month follow-up, patients underwent detailed static and kinetic perimetry, microperimetry, optical coherence tomography, wide-field color fundus photography, and fluorescein angiography. Quantitative change in retinal sensitivity was assessed by comparing the mean global retinal sensitivity before and after laser treatment and by comparing the modeled hill of vision by deriving a volumetric measure. Final follow-up was completed on May 21, 2014. INTERVENTIONS: Multispot laser treatment was applied using standard parameters, until neovascularization regressed or complete retinal coverage was achieved. MAIN OUTCOMES AND MEASURES: Participants who passed the Esterman binocular visual field test for driving in the United Kingdom (at least 120° horizontal field with no significant defects within the central 20°) and full-field and macular retinal sensitivity. RESULTS: Of the 43 patients (17 men; 26 women; mean [SD] age, 46.6 [13.3] years), 38 (88%) completed the study. Before treatment, 41 of 43 patients (95%) passed the Esterman visual field test for driving; after completion of laser treatment, 35 of 38 patients (92%) passed. The mean (SD) change in retinal sensitivity on static perimetry was -1.4 (3.7) (95% CI, -2.7 to -0.1) dB OD and -2.4 (2.9) (95% CI, -3.4 to -1.4) dB OS. Mean (SD) 4° macular sensitivity decreased by 3.0 (5.2) dB OD and 2.6 (5.4) dB OS. CONCLUSIONS AND RELEVANCE: This prospective study investigating the effects of multispot laser PRP on retinal sensitivity demonstrates a high likelihood of retaining eligibility to drive based on adequate visual field. A mild loss of retinal sensitivity was detected at 6 months after completion of laser treatment. Further change to visual fields may have occurred with longer follow-up. This study provides information that might be used to counsel patients requiring PRP and informs the debate regarding the role of anti-vascular endothelial growth factor therapy in patients with PDR who might otherwise receive laser treatment.

Barriers to sight impairment certification in the UK: the example of a population with diabetes in East London.

BACKGROUND: This study assessed the barriers to sight impairment certification in the East London Borough of Tower Hamlets amongst patients attending the Diabetic Retinopathy Screening Service (DRSS). METHODS: All patients who attended DRSS between 1stApril 2009 and 31st of March 2010 and whose recorded best corrected visual acuity (BCVA) at DRSS fulfilled the requirements for sight impairment in the UK were included. An additional 24 patients whose general practitioners (GPs) reported them to be certified blind due to no perception of light (NPL) vision were re-examined to ascertain the reason for certification, and their potential social and visual aids needs. RESULTS: 78 patients were identified with certifiable vision and were reviewed: 10 deceased in the preceding 12 months; 60 were not known to be certified. Of these, 57 attended further assessment, 27 were found to have non-certifiable vision, 9 were referred for further interventions, 9 were certified and 9 were found to be eligible, but declined certification. Five patients were registered due to diabetic eye disease.Of those 24 reported by the GP of NPL vision, only 4 had true NPL, the rest had usable vision. Only two of them were certified blind due to diabetes. CONCLUSIONS: Our data shows that sight certification in patients with diabetes might be underestimated and these patients often have non-diabetes related visual loss. We propose that data on certifiable visual impairment could serve, along with existing certification databases, as a resource for quality of care standards assessment and service provision for patients with diabetes.

Sutureless large incision cataract extraction: Indications and results from two teaching hospital eye departments in the United Kingdom.

OBJECTIVE: To highlight the role of Sutureless Large Incision Cataract Extraction (SLICE) in the United Kingdom for the treatment of cataracts at high risk for intra- or postoperative complications. SETTING: Two University Hospitals in the United Kingdom MATERIALS AND METHODS: Retrospective case note review of planned SLICE performed over a 12-month period. RESULTS: SLICE was performed on 11 eyes of 11 patients (mean age, 79 years) having preoperative vision of hand motions (10 eyes) with very dense or mobile cataracts and high risk for phacoemulsification. Mean follow up was 12 weeks, with no operative or postoperative complications. Nine patients (without ocular or systemic comorbidity) achieved best corrected vision of 0.3 LogMAR (20/40) or better. CONCLUSIONS: SLICE is safe and effective for dense or mobile cataracts and can play a role in patients where conventional phacoemulsification carries higher risks of complications.

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.

AIM: To describe the clinical features of a case series of patients with unilateral vitelliform maculopathy and the results of screening BEST1 and PRPH2 for disease-causing mutations. DESIGN/METHODS: This was a retrospective case series study of six patients ascertained over a 2-year period. Ophthalmological examination, fundus photography, autofluorescence imaging, optical coherence tomography and detailed electrophysiological assessment were undertaken. Blood samples were taken for DNA extraction and mutation screening of BEST1 and PRPH2 was performed. RESULTS: Six patients (3 men and 3 women) with unilateral vitelliform maculopathy were identified, ranging in age from 30 to 68 years. Vision in the affected eye ranged from 20/10 to 20/100. There was no clinical, retinal imaging or electrophysiological evidence of fellow eye involvement. Direct sequencing of BEST1 and PRPH2 did not reveal any disease-causing variants. CONCLUSIONS: A case series of patients is reported with an unusual unilateral vitelliform phenotype, often associated with good visual function. The patients do not have the typical characteristics associated with age-related maculopathy or any inherited macular disorders, such as Best vitelliform macular dystrophy. Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations.

Nd:YAG laser capsulotomy in the prone position under general anesthesia.

Neodymium:YAG (Nd:YAG) capsulotomy is the most common treatment for posterior capsule thickening. Occasionally, patients are unsuitable for receiving this treatment by slit lamp and require alternative surgical options. A technique enabling patients to undergo Nd: YAG laser capsulotomies while under general anesthesia is described. After induction of anesthesia in the supine position, the patient is transferred into the prone position and his or her neck is extended with the chin supported onto the Nd:YAG laser delivery slit lamp before the administration of the laser treatment. The procedure was performed in three individuals, who experienced good outcomes.