A Consensus Statement on the Terminology for Automated Visual Field Abnormalities.

BACKGROUND: A multitude of terms have been used to describe automated visual field abnormalities. To date, there is no universally accepted system of definitions or guidelines. Variability among clinicians creates the risk of miscommunication and the compromise of patient care. The purposes of this study were to 1) assess the degree of consistency among a group of neuro-ophthalmologists in the description of visual field abnormalities and 2) to create a consensus statement with standardized terminology and definitions. METHODS: In phase one of the study, all neuro-ophthalmologists in Israel were asked to complete a survey in which they described the abnormalities in 10 selected automated visual field tests. In phase 2 of the study, the authors created a national consensus statement on the terminology and definitions for visual field abnormalities using a modified Delphi method. In phase 3, the neuro-ophthalmologists were asked to repeat the initial survey of the 10 visual fields using the consensus statement to formulate their answers. RESULTS: Twenty-six neuro-ophthalmologists participated in the initial survey. On average, there were 7.5 unique descriptions for each of the visual fields (SD 3.17), a description of only the location in 24.6% (SD 0.19), and an undecided response in 6.15% (SD 4.13). Twenty-two neuro-ophthalmologists participated in the creation of a consensus statement which included 24 types of abnormalities with specific definitions. Twenty-three neuro-ophthalmologists repeated the survey using the consensus statement. On average, in the repeated survey, there were 5.9 unique descriptions for each of the visual fields (SD 1.79), a description of only the location in 0.004% (SD 0.01), and an undecided response in 3.07% (SD 2.11%). Relative to the first survey, there was a significant improvement in the use of specific and decisive terminology. CONCLUSIONS: The study confirmed a great degree of variability in the use of terminology to describe automated visual field abnormalities. The creation of a consensus statement was associated with improved use of specific terminology. Future efforts may be warranted to further standardize terminology and definitions.

[OPTIC NEURITIS - CLASSIFICATION, MANAGEMENT AND TREATMENT].

INTRODUCTION: Optic neuritis is an inflammatory condition of the optic nerve, frequently the first manifestation of a central nervous system disease. While typical optic neuritis is strongly associated with multiple sclerosis, the etiology of atypical optic neuritis varies. The visual and the systemic prognosis, as well as the management depend on the suspected etiology. The understanding and the classification of atypical optic neuritis evolved significantly since the discovery of the anti-aquaporin4 (AQP4) and the anti-myelin oligodendrocyte glycoprotein (MOG) antibodies as biomarkers and pathologic causes of neuromyelitis optica spectrum disorder (NMOSD) and MOG-associated disorder (MOGAD) respectively. Additional causes of optic neuritis include multiple autoimmune and infectious diseases. About one third of optic neuritis cases are idiopathic. Correct and timely diagnosis of the optic neuritis etiology is crucial for proper treatment initiation and for reducing long term visual and systemic disability.

[TREATMENT DILEMMAS IN FULMINANT INTRACRANIAL HYPERTENSION].

INTRODUCTION: Fulminant intracranial hypertension is a rare, acute presentation of idiopathic intracranial hypertension with rapid and devastating visual loss that can lead to blindness. As vision deteriorates quickly and often irreversibly, prevention of further visual loss requires emergent treatment to decrease intracranial pressure. The case presented is that of an 18 years old male with new symptoms of headaches and visual obscurations that had rapid progressive visual loss with findings of severe bilateral swollen discs. Brain MRI and MRV ruled out intracranial mass and cerebral venous thrombosis. A lumbar puncture confirmed highly increased ICP. Due to the fulminant clinical presentation, he underwent an urgent fenestration of both optic nerves with improvement of vision in both eyes. The patient's clinical scenario accentuates the importance of prompt recognition of this rare disorder and the need for immediate surgical intervention to prevent further visual loss and blindness.

Diagnostic value of neuro-ophthalmological signs in cases of Chiari I malformation.

INTRODUCTION: Our purpose was to evaluate the diagnostic value of measuring diameters of optic nerve sheath (ONSD), presence/absence of papilledema, tortuosity of the optic nerve, flattening of the posterior sclera, and intraocular protrusion of the prelaminar optic nerve for intracranial pressure assessment in cases of Chiari I malformation. METHODS: In a retrospective study, MRI data of 37 consecutive pediatric patients with Chiari malformation and data of 400 patients without intracranial pathology were compared and analyzed. ONSDs were measured at the point where the ophthalmic artery crosses the optic nerve (anatomical landmark). The correlation analysis was performed with clinical findings, gender, age, papilledema, and other neuro-ophthalmological findings. RESULTS: ONSD was enlarged in 38 % of cases of Chiari malformation. The enlargement was bilateral, no correlation with age or gender was found (p = 0.67 and p = 0.76, respectively). The presence of papilledema was detected in 19 % of cases presenting less valuable diagnostic sign if compared with ONSD. The tortuosity of the optic nerve was found in 22 % of cases, but in three patients, it was unilateral. All patients with enlarged ONSD and other neuro-ophthalmological signs present were treated surgically, while most of the patients without these signs (20/23) were treated conservatively. CONCLUSION: In majority of pediatric cases of Chiari malformation, the ONSD is not enlarged and other neuro-ophthalmological signs are not present. Detecting the enlarged ONSD and other neuro-ophthalmological signs in cases of Chiari malformation may indicate the elevated intracranial pressure and necessity for urgent surgical intervention.

Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.

Purpose: To describe clinical and molecular findings of two families with X-linked optic atrophy and present two new pathogenic variants in the WDR45 gene. Methods: Case series and molecular analysis of two families of Jewish Ashkenazi descent with early onset bilateral optic atrophy. Whole-exome sequencing (WES) and bioinformatic analysis were performed, followed by Sanger sequencing and segregation analysis. Results: In both families, male siblings (three in family 1, two in family 2) had early-onset isolated bilateral optic atrophy. The sibling's healthy mother (and in the second family also one healthy sister) had a mild presentation, suggesting a carrier state and an X-linked inheritance pattern. All participants were otherwise healthy, apart from mild learning disabilities and autism spectrum disorder in two siblings of the second family. Variants in known optic atrophy genes were excluded. Analysis revealed a point variant in the WDR45 gene-a missense variant in the first family, NM_001029896.2:c.107C>A; NP_001025067.1:p.Pro36His (variant ID: 1704205), and a splice site variant in the second family, NM_001029896.2:c.236-1G>T; NP_009006.2:p.Val80Leu (variant ID: 1704204), located on Xp11.23 (OPA2 locus). Both variants are novel and predicted as pathogenic. In both families, the variant was seen with full segregation with the disease, occurring in all affected male participants and in one allele of the carrier females, as well as none of the healthy participants. Conclusions: Among two families with isolated X-linked optic atrophy, molecular analysis revealed novel variants in the WDR45 gene in full segregation with the disease. This gene resides within the OPA2 locus, previously described to associate with X-linked optic atrophy. Taken together, these findings suggest that certain pathogenic variants in the WDR45 gene are associated with isolated X-linked optic atrophy.

Ocular motor and sensory function in Parkinson's disease.

PURPOSE: To evaluate the effect of dopaminergic medication and deep brain stimulation on ocular function in Parkinson's disease (PD) and to measure vision-related quality of life in subjects with PD. DESIGN: Prospective, comparative case series. PARTICIPANTS AND CONTROLS: Twenty-seven PD and 16 control subjects were recruited. METHODS: Visual acuity, ocular motor function, convergence, and vision-related quality of life using the 25-item National Eye Institute Visual Function Questionnaire (VFQ-25) were measured. Visual sensory and motor measurements were obtained during the on and off states of PD dopaminergic treatment. MAIN OUTCOME MEASURES: Convergence ability and vision-related quality of life. RESULTS: The PD subjects had a mean age of 58.8 years; 30% were female. Their mean duration of PD was 10.9 ± 6.8 years. The control subjects had a mean age of 61.6 years; 56% were female. There was no difference in visual acuity, contrast sensitivity, or color vision of the PD subjects in their on state compared with controls. Convergence amplitudes measured with base-out prism were significantly poorer in PD subjects in their on state compared with controls (24.1 ± 8 Δ vs. 14.8 ± 10.3 Δ; P = 0.003). The mean composite VFQ-25 score was significantly worse in the PD subjects compared with the controls (87.1 ± 8.69 vs. 96.6 ± 3.05; P = 0.0001). Comparing the PD subjects in their on with their off states, there was no difference in distance exodeviation, near exodeviation, or ocular ductions. Mean convergence amplitudes and near point of convergence were better in the on state compared with the off state: 14.8 ± 10.3 Δ versus 10.7 ± 9.0 Δ (P = 0.0006) and 13.1 ± 9.1 cm versus 18.1 ± 12.2 cm (P = 0.002), respectively. CONCLUSIONS: Convergence ability is significantly poorer in PD subjects in both the on and off states compared with controls, but improves significantly with systemic dopaminergic treatment. Ocular motor function in PD subjects fluctuates in response to treatment, which complicates ophthalmic management. Parkinson's disease subjects have a significant reduction in vision-related quality of life, especially with near activities, that is not associated with visual acuity. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Corneal laceration by sharp objects in children seven years of age and younger.

PURPOSE: Young children are prone to develop amblyopia after penetrating injury. We sought to evaluate the management of penetrating corneal injury without intraocular foreign body (IOFB) in children 18 months. Data retrieved included all details from the initial examination, surgical procedures, amblyopia prevention measures, and final visual acuity. RESULTS: Twenty children eligible for the study were identified. The mean age was 4.3 years, and mean follow-up time was 58 months. The corneal wound size range was 1-10 mm, with 8 eyes having wounds >or=6 mm. All patients required primary surgical management. Traumatic cataract extraction was performed at the primary operation in 6 eyes, with intraocular lens (IOL) implantation in 4 eyes. Additional surgical procedures were performed in 12 eyes. Yttrium-Aluminum-Garnet (YAG) capsulotomy was performed in 3 eyes with secondary cataract. Twelve patients required spectacle or contact lens correction, and 11 patients had patching for amblyopia prevention. At the end of follow-up, visual acuity was 20/40 or better in 14 eyes, 20/50 to 20/100 in 4 eyes, no light perception (NLP) in 1 eye, and unknown in 1 eye. CONCLUSIONS: Proper management of penetrating corneal injury in young children can result in excellent visual rehabilitation. Major measures include prompt traumatic cataract extraction with either primary or secondary IOL implantation, opening of posterior capsular opacification with YAG laser, correction of refractive errors, and patching for amblyopia prevention.

Diagnostic value of the optic nerve sheath diameter in pseudotumor cerebri.

If persistent severe headache remains the only complaint of a patient, then the diagnosis of pseudotumor cerebri (PTC) can be delayed because in such cases practitioners are hesitant to immediately apply invasive intracranial pressure (ICP) measurement. Our purpose was to apply the technique of measuring diameters of the optic nerve sheath (ONSD) as a diagnostic tool in cases of PTC. Our aim was to provide practitioners with an additional sign to speed up their decision making about implementation of the lumbar puncture. In a retrospective study, CT scan data of 35 consecutive adult patients with PTC were collected and analyzed. ONSD were measured at the point where the ophthalmic artery crosses the optic nerve (anatomical landmark). The correlation analysis was performed with sex, age, and neuro-ophthalmological findings. We found that the ONSD was enlarged in 94.3% of patients with PTC. The enlarged ONSD were 6.2±1.2mm for the right and 6.3±0.9mm for the left (cut-off value >5.5mm). The enlargement was bilateral, and no correlation with age or sex was found (p=0.67 and p=0.76, respectively). Presence of papilledema was detected in 91.4% of patients (32/35) presenting as a slightly less valuable diagnostic sign compared with ONSD. We conclude that in the majority of cases of PTC the ONSD is significantly enlarged, indicating elevated ICP even if CT scans are negative. Implementing this ONSD method as a diagnostic tool in cases of suspected PTC may help in early accurate diagnosis, avoiding misdiagnosis, and providing appropriate early treatment.

Encephalocraniocutaneous lipomatosis: case report and review of the literature.

PURPOSE: Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. METHODS: To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. CONCLUSION: Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.

Familial juvenile normal-tension glaucoma with anterior segment dysgenesis: a clinical report of a new phenotype.

PURPOSE: To describe a new familial syndrome consisting of anterior segment dysgenesis, glaucomatous optic neuropathy, and intraocular pressure (IOP) in the normal range. DESIGN: Observational case series. METHODS: Subjects were available for examination from a 2-generation pedigree. Ophthalmic examination and photography, visual field examination, and optical coherence tomography of the peripapillary retinal nerve fiber layer were performed. In some subjects, medical work-up was performed. RESULTS: Eight affected subjects were identified. All had signs of Axenfeld-like anterior segment dysgenesis, ranging from a single fine iris process to diffuse broad iris synechiae extending to a prominent posterior embryotoxon. Four of the 8 subjects had glaucoma-appearing optic nerve heads with corresponding visual field defects; in a fifth subject, glaucoma was suspected on the basis of optic nerve appearance, but the visual field was full. IOP was consistently in the low-teens to mid-teens except in 1 eye in which it was 22 mm Hg, the highest recorded pressure in all examined subjects. CONCLUSIONS: A new phenotype is presented, characterized by IOP in the normal range, glaucomatous-appearing optic nerve cupping, and anterior segment dysgenesis. The suggested mode of inheritance is autosomal dominant with marked intrafamilial variability.

Reduction of conjunctival bacterial flora by povidone-iodine, ofloxacin and chlorhexidine in an outpatient setting.

PURPOSE: To compare the reduction of conjunctival bacterial flora by povidone-iodine 4%, ofloxacin 0.3%, and chlorhexidine 0.05% for endophthalmitis prophylaxis before corneal suture removal in an outpatient setting. METHODS: In each group of 25 consecutive subjects who presented for outpatient ophthalmic evaluation, one eye was treated with either povidone-iodine 4% (PI), ofloxacin 0.3% (Oflox) or chlorhexidine 0.05% (Chex). The other eye served as a control. Three minutes after treatment, cultures were taken from the inferior conjunctival sac in both eyes. Following incubation at 35 degrees for 48 hours, the numbers of colonies were counted and compared. The difference in the numbers of colonies in each pair of treated and control eyes was assessed for each drug and compared. RESULTS: The reduction in colony-forming units was highly significant for each of the three drugs tested (Wilcoxon signed-ranks test; p < 0.0001). There was no significant difference between percent reduction by the three drugs (Kruskal-Wallis test; p = 0.68). Sterile cultures following preparation by PI, Oflox and Chex were obtained in 52%, 68% and 52%, respectively. CONCLUSIONS: The regimens tested were similarly effective in reducing conjunctival commensals. They may all be considered as options for a quick prophylaxis against infection following suture removal in an outpatient setting.