Visual Field Constriction Research Articles

Factors associated with vision loss in idiopathic intracranial hypertension patients with severe papilledema.

Our aim was to compare factors associated with poor versus good visual outcomes in idiopathic intracranial hypertension (IIH) patients with severe papilledema at initial presentation. Retrospective review of consecutive IIH patients (1/1/2013-6/10/2023) with severe papilledema (Frisén grade 4-5 and/or atrophy in at least one eye); Patients were divided into "poor visual outcome" (poor visual acuity and constricted visual field in at least one eye) and "good visual outcome" (good visual acuity and only mild visual field changes in both eyes) at >6 months for medically-treated patients and >3 months follow-up for surgically-treated patients. We included 134 IIH patients with severe papilledema (70 had poor and 64 had good visual outcomes). No significant differences existed for age, gender, race, hypertension, haemoglobin, or cerebrospinal fluid opening pressure. The poor-outcome group had significantly greater BMI (mean 39.2 vs 35.1 kg/m2, p = 0.004), and worse initial HVF-MD (-20.04 vs -5.81 dB, p < 0.0001). Poor-outcome patients saw more prior health-care providers (4.7 vs 2.4, p < 0.0001), with delayed neuro-ophthalmology encounters (58.5 vs 15.2 weeks, p = 0.001). 41.4% of poor-outcome patients were initially seen in outside emergency departments (ED) (vs 14.1% of good-outcome patients, p = 0.0005), while only 27.1% were seen by eye-care providers (vs 53.1% of good-outcome patients, p = 0.0027). No poor-outcome patients initially consulted our institution's ED vs 7.8% of good-outcome patients. Although patients with poor visual outcome did not seek medical care later than good outcome patients, they had delayed diagnosis/treatment because of prior outside ED visits andlack of prior eye-care provider evaluations, suggesting that early diagnosis and specialized management of papilledema is essential for patients with symptoms of intracranial hypertension.

Long-term mercury exposure and visual field constriction in Grassy Narrows First Nation

Long-term mercury exposure and visual field constriction in Grassy Narrows First Nation

Phase I Study of Intravitreal Injection of Autologous CD34+ Stem Cells from Bone Marrow in Eyes with Vision Loss from Retinitis Pigmentosa

PurposeTo evaluate the feasibility and safety of intravitreal injection of autologous CD34+ stem cells from bone marrow (BMSCs) in eyes with vision loss from retinitis pigmentosa (RP). DesignPhase I prospective open-labeled single center study. ParticipantsSeven eyes (7 patients) with RP with best corrected visual acuity (BCVA) of 20/100 to 20/400 or visual field constriction to within 10 degrees. MethodsA comprehensive exam with ETDRS BCVA, macular optical coherence tomography, perimetry, fluorescein angiography was performed at baseline, 1 to 3 months, and 6 months after study treatment. Bone marrow aspiration, isolation of CD34+ BMSCs under Good Manufacturing Practice (GMP) conditions, and intravitreal cell injection were performed on the same day. The CD34+ cells were isolated from bone marrow using a Ficoll gradient and the Miltenyi CliniMACs system. Isolated CD34+ cells were released for clinical use if viability, sterility and purity met the release criteria accepted by the Food and Drug Administration for this clinical study. Main Outcome MeasuresNumber of CD34+ cells isolated for injection and adverse events associated with study treatment during follow-up. Secondary outcome measures are changes in BCVA and perimetry. ResultsAll isolated CD34+ cells passed the release criteria. A mean of 3.26 + 0.66 million viable CD34+ cells (range 1.6 to 7.05 million) were injected intravitreally per eye. No adverse event was noted during the study follow-up except for one participant who was noted with transient cells in the anterior chamber with mild elevation in intraocular pressure at 18 hours after study injection which normalized by 24 hours. BCVA remained within 2 lines of baseline or improved in all participants at 6 months follow-up. Perimetry was stable or improved in all eyes during study follow-up except one eye with transient improvement at 1 month and worsening of both eyes at 6 months. ConclusionIntravitreal injection of autologous CD34+ BMSCs is feasible and appears to be well tolerated in eyes with vision loss from RP. A larger randomized prospective study would be needed to evaluate further the safety and potential efficacy of this cell therapy for vision loss associated with RP.

The FreiBurger: a new optotype for P300-based acuity estimation.

Accurate objective assessment of visual acuity is crucial, particularly in cases of suspected malingering, or when the patient's inability to cooperate makes standard psychophysical acuity tests unreliable. The P300 component of the event-related potentials offers a potential solution and even allows for the use of standard optotypes like the Landolt C. However, low-vision patients with large eccentric visual field defects often struggle to locate the Landolt C gap quickly enough for a P300 to be reliably produced. Addressing this challenge, we introduce a novel optotype (the "FreiBurger") with a critical detail that extends through the optotype's center. Two experiments, with 16 and 12 participants, respectively, were conducted. In the first, psychophysical acuity estimates were obtained with both the FreiBurger and the Landolt C. In the second, we tested the performance of the FreiBurger, relative to the Landolt C, in eliciting a P300 with undegraded vision, simulated low vision, and in a simulated combination of low vision and visual field constriction. Comparable psychophysical acuity values (average difference 0.03 logMAR) were obtained for both optotypes. In the P300 recordings, both optotypes produced similar P300 responses under conditions of undegraded vision and low vision. However, with the combination of low vision and constricted visual field, the P300 could only be reliably obtained with the FreiBurger, while the amplitude was drastically reduced with the Landolt C (9.1µV vs. 2.2µV; p < 0.0005). The new optotype extends the applicability of P300-based acuity estimation to the frequently encountered combination of low vision and constricted visual field, where Landolt C optotypes fail. Although impairments were simulated in the present study, we assume that the advantages of the new optotype will also manifest in patients with such impairments. We furthermore expect the advantages to apply to time-sensitive psychophysical examinations as well.

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population

BackgroundBiallelic pathogenic variants in USH2A lead to Usher syndrome or non-syndromic retinitis pigmentosa, and shown to have geographical and ethnical distribution in previous studies. This study provided a deeper understanding of the detailed clinical features using multimodal imaging, genetic spectrum, and genotype–phenotype correlations of USH2A-related retinal dystrophies in Taiwan.ResultsIn our cohort, the mean age at first visit was 47.66 ± 13.54 years, and the mean age at symptom onset, which was referred to the onset of nyctalopia and/or visual field constriction, was 31.21 ± 15.24 years. Among the variants identified, 23 (50%) were missense, 10 (22%) were splicing variants, 8 (17%) were nonsense, and 5 (11%) were frameshift mutations. The most predominant variant was c.2802T>G, which accounted for 21% of patients, and was located in exon 13. Patients with truncated alleles had significantly earlier symptom onset and seemly poorer disease progression regarding visual acuity, ellipsoid zone line length, and hypofluorescent lesions in the macula than those who had the complete gene. However, the clinical presentation revealed similar progression between patients with and without the c.2802T>G variant. During long-term follow-up, the patients had different ellipsoid zone line progression rates and were almost evenly distributed in the fast, moderate, and slow progression subgroups. Although a younger onset age and a smaller baseline intact macular area was observed in the fast progression subgroup, the results showed no significant difference.ConclusionsThis is the first cohort study to provide detailed genetic and longitudinal clinical analyses of patients with USH2A-related retinal dystrophies in Taiwan. The mutated allele frequency in exon 13 was high in Taiwan due to the predominant c.2802T>G variant. Moreover, truncated variants greatly impacted disease progression and determined the length of therapeutic windows. These findings provide insight into the characteristics of candidates for future gene therapies.

Extensive Macular Atrophy with Pseudodrusen-like appearance: Progression Kinetics and Late-Stage Findings

To describe the clinical outcome and late-stage findings of extensive macular atrophy with pseudodrusen-like appearance (EMAP). Retrospective cohort study. Seventy-eight patients (156 eyes) affected by EMAP. We collected data on best-corrected visual acuity, kinetic perimetry, OCT, short-wavelength autofluorescence, and near-infrared autofluorescence findings. Genetic testing for the TIMP3 and C1QTNF5 genes was performed via Sanger sequencing for 58 patients, with no pathogenic variants identified. The primary outcomes were best-corrected visual acuity at the last examination, visual field at the last examination, and incidence rates and time-to-event curves for blindness with the United States Social Security Administration and World Health Organization (WHO) criteria, foveal involvement, and atrophy enlargement beyond the 30° and 55° field of view. Imaging findings at the last examination were secondary outcomes. At the most recent visit, mean age was 70.9 ± 5.2 years. Using United States criteria, 58.1% of the patients were blind, and 25.8% were blind according to WHO criteria. All eyes showed large central scotomas, which were associated with visual field constriction in 22.2% of eyes. We detected focal openings or large dehiscences of Bruch's membrane (BM) in 25.4% of eyes. Near-infrared autofluorescence showed increased visibility of the choroidal vessels beyond the atrophy in 87.2% of eyes. The incidence rates for blindness were 3.95 per 100 patient-years with United States criteria and 1.54 per 100 patient-years according to WHO criteria. The incidence rates were 22.8 per 100 eye-years for foveal involvement, 12.0 per 100 eye-years for atrophy enlargement beyond 30°, and 6.6 per 100 eye-years for atrophy enlargement beyond 55°. The estimates were not influenced by the age at onset. We identified characteristic imaging findings, including BM ruptures, in elder patients with EMAP and calculated incidence rates for different functional and anatomic outcomes. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

The visual field-testing maze and vision maze: Feasible techniques to evaluate visual field loss in animals

Visual field loss due to glaucoma is a severe and concerning problem, leading to limited visual range and poor quality vision. The progression of this loss begins with a para-central arcuate scotoma which eventually advances to a ring scotoma and constricted visual fields in later stages. Currently, no animal model is available for screening this pattern of vision loss. However, we have successfully developed two mazes to evaluate visual field loss - the visual field-testing maze (VFTZ) for peripheral vision loss and the vision maze (VM) for central vision loss. Our studies involved inducing glaucoma in Wistar and Sprague Dawley rats using lipopolysaccharide (LPS) and testing them in VFTZ and VM. We used Latanoprost and dorzolamide eye drops as standard drug candidates during the study. We evaluated the animals for intraocular pressure, retinal vasculature imaging, and anxiety using tonometry, ophthalmoscopy, and light and dark model techniques. Furthermore, we quantified the antioxidant parameters of the retina using UV spectroscopy. Our findings showed that animals with peripheral visual field loss in VFTZ took significantly more time to reach the goal and spent more time within the maze compared to normal or drug-treated animals (P < 0.001). Additionally, animals with compromised central visual field in VM spent more time in a particular arm and changed arms less frequently (P < 0.001) compared to normal or drug-treated animals. Moreover, we observed that glaucomatous rats exhibited elevated anxiety levels and impaired performance in the mazes, emphasizing the impact of vision loss on anxiety. Finally, the antioxidant and ATPase alterations in the retinal layers verified the glaucomatous changes in the experimental animals. Based on our remarkable findings, we strongly recommend the use of VFTZ and VM to evaluate visual field loss in animals.

LOW VISION IN RETINITIS PIGMENTOSA: HOW TO ENHANCE FUNCTIONAL VISION IN PSEUDOPHAKIC PATIENT

Introduction : Retinitis Pigmentosa (RP) could lead to various visual impairments, including decreased visual acuity, poor dark adaptation, decreased contrast sensitivity, poor color vision, visual field constriction, leading to low vision (LV). LV in RP decreases patient’s quality of life (QoL) and Independence. We aim to report a successful case of LV management in a bilateral pseudophakic patient with RP.&#x0D; Case Illustration : A 33-year-old man came with progressively blurred vision in both eyes (BE) that worsen 6 months ago. Ophthalmologic examination revealed his uncorrected visual acuity for right eye (RE) and left Eye (LE) was 6/60 and 4/60. The patient had cataract surgeries and IOLs implantation on BE in 2021. Funduscopic examination revealed the bone spicule appearance, blood vessel attenuation, and waxy disc pallor on BE. Humphrey's examination showed a peripheral visual field defect. Decreased contrast sensitivity and poor color vision were also found.&#x0D; Discussion : The patient was managed by LV aids and rehabilitation. Spectacle clarified distant and near vision with best corrected visual acuity (BCVA) 6/21 and 0.8 M on BE, photochromic lenses aided in adapting to various lighting levels and as a UV protection, and the addition of illumination and color contrast enhancement improved vision in dim light. A convex mirror to be used as a field- enhancement spotting tool. Rehabilitation enhances his head tracking, scanning, and habitual spotting skills. Improvement of QoL has been recorded using LVQoL questionnaires.&#x0D; Conclusion : LV management are vary based on an individual’s level of functional vision and personal preferences. Optimal LV management could enhance patient QoL and Independence.

Potassium Iodate Retinotoxicity after an Overdose of Anti-Radiation Pills: A Case of Apocalyptic Retinopathy.

To report a case of severe retinal toxicity after an attempted suicidal overdose of anti-radiation pills containing a well-known retinal pigment epithelial toxin, potassium iodate. Clinical examination and multimodal imaging are provided from a clinic visit eleven years after the suicide attempt. The 42-year-old patient had widespread retinal atrophy in both eyes with near complete absence of the retinal pigment epithelium and severe retinal thinning. A few remaining areas of preserved photoreceptors provided her with 20/60 and 20/200 vision in her right and left eyes, respectively, with very constricted visual fields. Despite being first described over 100 years ago, few cases of iodate retinotoxicity have been reported in the published literature, and most are related to accidental or intentional ingestion of iodate salts used to iodize table salt. This unique case of iodate retinotoxicity secondary to anti-radiation tablets highlights the risks of unregulated sale of these agents marketed in the United States as essential components of nuclear apocalypse "go bags" because they have a poor margin-of-safety and no specific warnings of the risk of permanent blindness with overdosage.

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report

BackgroundWe present the detailed multimodal imaging analysis in a case of X-linked retinitis pigmentosa (XLRP) exhibiting a markedly asymmetric presentation with a novel RP2 mutation.Case presentationA 25-year-old woman complained of decreased vision in the right eye as well as night blindness. Her visual acuity was 20/100 (OD) and 20/20 (OS). Fundus examination revealed bone spicule pigmentation with tessellated changes in the fundus within the posterior pole. Optical coherence tomography (OCT) showed generalized disruption of foveal microstructures in the OD. No abnormal findings were identified, but localized ellipsoid zone band losses were observed on OCT in the OS. Fundus autofluorescence revealed multiple patchy hypo-autofluorescent lesions in the OD and a tapetal-like radial reflex against a dark background in the OS. Fluorescein angiography and OCT angiography revealed diffuse mottled hyperfluorescence with reduced retinal vessel density in the OD and no evidence of vascular compromise in the OS. Goldmann perimetry demonstrated a constricted visual field, and electrophysiological assessment revealed an extinguished rod response and a severely impaired cone response in the OD. Molecular genetic tests via next-generation sequencing revealed the pathogenic variant to be a heterozygous frameshift mutation in RP2 (RP2, p.Glu269Glyfs*7), resulting in premature termination of the protein.ConclusionsRandom X-inactivation may be attributed to interocular differences in the severity of XLRP in female carriers. A novel frameshift mutation in the RP2 gene and a comprehensive phenotypic evaluation in the current study may broaden the spectrum of the disease in XLRP carriers.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.

Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available in clinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especially Asian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severe nyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other genetic mutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal in early childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy, which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinal dystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy product for the treatment of RPE65-related retinal dystrophy.

Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy.

The aim of the study was to determine the rate of retinal degeneration in patients with c.2610C>A (p.Cys870*) in USH2A exon 13, amenable to exon skipping therapy. There were nine patients from seven families, three of whom were male (two were homozygous). Seven patients had follow-up data (median of 11 years). Analysis included best corrected visual acuity (BCVA, decimal Snellen), visual field (Goldmann perimetry target II/4), fundus autofluorescence (FAF), optical coherence tomography (OCT), and microperimetry (MP). The median age at the onset of nyctalopia was 20 years (range, 8-35 years of age). At the first exam, at a median age of 42 years, the median BCVA was 0.5 (0.2-1.0), and the median visual field diameter was 23° (5°-114°). Imaging showed a hyperautofluorescent ring delineating preserved foveal photoreceptors in 78% (7/9) of patients, while 22% (2/9) had a hyperautofluorescent patch or atrophy, reflecting advanced disease. Survival analysis predicted that 50% of patients reach legal blindness based on a visual field diameter < 20° at the age of 52 (95% CI, 45-59) and legal blindness based on a BCVA ≤ 0. 1 (20/200) at the age of 55 (95% CI, 46-66). Visual field constriction occurred at the median rate of radial 1.5 deg/year, and hyperautofluorescent ring constriction occurred at the median rate of 34 μm/year. A non-null second allele was found in two patients: p.Thr4315Pro and p.Arg303His; the patient with p.Arg303His had a milder disease. The rates of progression will be useful in the design and execution of clinical trials.

Introduction and Discovery of Retinitis Pigmentosa.

Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy. There are three main characteristics of RP: night blindness, retinal pigmentation, and visual field constriction. Among these three features, night blindness was the first to be discovered, which could be dated back to the ancient Egyptians at around 1500BC. However, the night blindness described at that time was most likely associated with vitamin A deficiency rather than RP. Retinitis pigmentosa was first described in cadaver anatomic dissection before the invention of the ophthalmoscope. However, it was not linked to RP or night blindness. It was not until the invention of the ophthalmoscope that ophthalmologists could truly look into the eye and correlate the retinal pigmentation with clinical symptoms, such as night blindness and visual field constriction. In 1983, at a RP workshop that gathered together many experts, a consensus was reached regarding the terminology and guidelines for the diagnosis of RP. In this chapter, we will introduce the history and discovery of RP along with its characteristics.

Retinal involvement in mitochondrial disease

AbstractRetinal involvement in mitochondrial disease is a variable feature of mitochondrial dysfunction. The retinal pigment epithelium and photoreceptor layers can both be affected. It manifests with signs ranging from asymptomatic peripheral salt‐and‐pepper retinopathy to classic bone‐spicule pigmentary changes. The consequences can be progressive mild or severe visual field constriction and central visual acuity loss. The pathophysiological mechanisms involved in retinal dysfunction in mitochondrial disease are still being elucidated and may include a range of metabolic and bioenergetic defects.Mitochondrial conditions affecting the eye that display prominent outer retinal involvement include.(a) mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes (MELAS) secondary to the m.3243A &gt; G mtDNA mutation in MT‐TL1,(b) neuropathy, ataxia and retinitis pigmentosa (NARP) secondary to the m.8993 T &gt; G mtDNA mutation in MT‐ATP6,(c) chronic progressive external ophthalmoplegia (CPEO), in particular the Kearns‐Sayre syndrome (KSS) secondary to single large‐scale mtDNA deletions, and.(d) some newer entities, such as optic neuropathy and pigmentary retinopathy seen in patients with mutations in the gene SSBP1.The features and diagnostic pathway for these conditions will be illustrated and discussed.

ODP142 Concentric Reversible Visual Field Loss, Nyctalopia and Dyschromatopsia With Ezetimibe Therapy - A Case Report

Abstract Background Ezetimibe is a lipid lowering agent that selectively inhibits intestinal cholesterol absorption. It is clinically indicated in patients with hypercholesterolemia in combination with statin or as monotherapy in patients who are contraindicated or intolerant to statin. Musculoskeletal and gastrointestinal symptoms are the commonly reported adverse drug reactions for ezetimibe monotherapy, but to date there are no published reports of ezetimibe induced visual disorders. Number of medications (including ezetimbe) associated with secondary cone-rod dystrophies (CRDs) have been reported in the Rare Disease Hub, but its mechanism of action is not well understood. Clinical case: A 55 year-old Caucasian women with a 2 years history of increasing concentric visual field loss, blurred vision, photophobia, nyctalopia (loss of night vision), dyschromatopsia (colour blindness), and new visual migraines with bright aura after commencing ezetimbe and montelukast therapy around the same time. She had a background of asthma, rosacea, and hypercholesterolemia. She does not report drug related hypersensitivity reactions other than statin intolerance and is otherwise medically well with no family history of retinal dystrophy. On investigation, pertinent positives included repeated visual field constriction on Humphrey visual fields 30'2, and significantly impaired colour vision bilaterally (R1/17, L1/17) on Ishihara charts not previously reported. MRI of orbits and brain was unremarkable. Retinal examination and electrophysiology testing were completely normal for all test conditions. Baseline blood tests including FBC, LFT, EUC, CRP, ESR, TSH, ACE, and fasting glucose were normal. Autoimmune screens including anti-retinal antibodies, ENA, ANA, anti-dsDNA, serum electrophoresis, complements, lupus anti-coagulants, and thrombophilia studies were all within normal limits. Recent abdominal US, CXR and mammography were normal. Work up for carcinoma associated retinopathy and was negative. Visual symptoms completely resolved after cessation of both ezetimibe and montelukast therapy. Rechallenge on montelukast therapy alone did not result in recurrent visual field constrictions. Clinical review after 3 months demonstrated normalization of the concentric visual field loss on Humphrey field analyzer. Conclusion This is the first case demonstrating association between ezetimibe and CRD related visual impairments. There is literature reporting multiple different medications causing cone-rod dystrophy. This includes commonly used pharmacotherapies to treat diabetes, such as sitagliptin/metformin combinations. Clinical course of CRDs is rapid and can lead to early legal blindness if left untreated. Therefore, we emphasise the importance of considering commonly used medications as a cause of patient symptoms in unexplained clinical presentations, and to systematically go through the options. Reference: (1) Cone-rod dystrophy. Rare diseases InfoHub. https://rarediseases.oscar.ncsu.edu/disease/cone-rod-dystrophy/resources/ Presentation: No date and time listed

Management of primary open-angle glaucoma through Ayurveda – An observation

Primary Open-Angle Glaucoma (POAG) is characterized by the normal appearance of the anterior-chamber angle and raised intraocular pressure (IOP) with no underlying disease or cause. Majority of cases are asymptomatic. Blurred vision and constricted visual fields appear in later stages of the condition. Due to the irreversible nature of visual loss, early detection and diagnosis are paramount. Ayurvedic management of a case of already-diagnosed POAG is presented in this report. A 55-year-old male presented with complaints of bilateral diminished distant vision associated with headache since January 2015. Examination of the anterior chamber in both eyes was normal, IOP was increased, visual fields were markedly constricted, and optic discs showed increased cup-to-disc ratio and bayonetting of blood vessels. The patient underwent two courses of inpatient management comprising Virechana (~therapeutic purgation), Marsha nasya (~high-dose medication through nasal route), Pratimarsha nasya (~low-dose medication through nasal route), and Shamana aushadhi (~palliative medicines including Vainateya ghrita, Dhanadarasnadi kwatha, Akshabijadi kwatha, and Bharngyadi kwatha). Sthanika chikitsa (~local treatments) including Netra kriyakalpa (~ocular therapeutic procedures) such as Seka (~ocular therapy by streaming), Aschyotana (~eye drops), Anjana (~collyrium), Netra tarpana (~therapeutic retention of medicated liquids over the eyes), and Bandhana karma (~bandaging) and therapies for the head such as Tala (~paste over the bregma), Talapoticchil (~paste on a plantain leaf over the head), and Shirodhara (~pouring medicated oil over the scalp) were also done. IOP was lowered and some expansion of the visual field was noted posttreatment. Ayurvedic management of POAG was observed to be useful in limiting the further progression of neuronal damage and maintaining the condition.

Quality of Life of Older Adults with Primary Open Angle Glaucoma using Bahasa Malaysia Version of Glaucoma Quality of Life 36 Questionnaire.

Primary Open-Angle Glaucoma (POAG) is an age-related chronic optic neuropathy causing progressive constriction of visual field, which compromised quality of life (QoL) of older adults. The study aims to determine the QoL according to the severity of visual field using Bahasa Malaysia version of the Glaucoma Quality of Life- 36 (Glau-QoL 36) in older adults with POAG in Malaysia. A cross-sectional study was conducted in two tertiary hospitals in Malaysia: Hospital Universiti Sains Malaysia, Kelantan, and Hospital Selayang, Selangor. POAG patients who were ≥ 60 years old at the time of recruitment had minimal cataract, underwent cataract or trabeculectomy surgery at least 3 months prior and were on medical and surgical treatment. The severity of POAG was based on the modified Advanced Glaucoma Intervention Study (AGIS) score on two reliable reproducible Humphrey visual field SITA program 24-2 analysis. Face to face, one-on-one interview was conducted using validated Bahasa Malaysia version of GlauQol 36. A total of 360 older adults with POAG were recruited. Majority were between ages 60-67 (38.3%) with 64 (17.8%) mild, 93 (25.8%) moderate, 115 (31.9%) severe POAG and 88 (24.4%) end-stage severity of POAG. The majority of the recruited patients were not working (88.9%) and live with their families (68.1%). There was a significant association between GlauQoL 36 score of all domains: daily living, driving, physiological well-being, self-image, anxiety, burden of treatment and confidence in healthcare with the severity of POAG (p<0.001). Increased severity of POAG was associated with decreased QoL in all GlauQoL 36 domains except confidence in healthcare. There was also a significant increase in dependency, with a majority of the end-stage were living with their families (p<0.001). QoL and independency of older adults with POAG decrease with worsening of visual field defect. Addressing the problem of visual-related activities in older adults with POAG may reduce their dependency and improve QoL. Happy living is important to lead to healthy living among older adults with POAG.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.

PurposeBiallelic variants in CLRN1 are responsible for Usher syndrome 3A and non-syndromic rod–cone dystrophy (RCD). Retinal findings in Usher syndrome 3A have not been well defined. We report the detailed phenotypic description of RCD associated with CLRN1 variants in a prospective cohort.MethodsPatients were clinically investigated at the National Reference Center for rare ocular diseases at the Quinze-Vingts Hospital, Paris, France. Best-corrected visual acuity (BCVA) tests, Goldmann perimetry, full-field electroretinography (ffERG), retinal photography, near-infrared reflectance, short-wavelength and near-infrared autofluorescence, and optical coherence tomography (OCT) were performed for all patients.ResultsFour patients from four unrelated families were recruited. Mean follow-up was 11 years for three patients, and only baseline data were available for one subject. Median BCVA at baseline was 0.2 logMAR (range, 0.3–0). ffERG responses were undetectable in all subjects. The III4e isopter of the Goldmann visual field was constricted to 10°. The retinal phenotype was consistent in all patients: small whitish granular atrophic areas were organized in a network pattern around the macula and in the midperiphery. OCT showed intraretinal microcysts in all patients. Upon follow-up, all patients experienced a progressive BCVA loss and further visual field constriction. Four distinct pathogenic variants were identified in our patients: two missense (c.144T>G, p.(Asn48Lys) and c.368C>A, p.(Ala123Asp)) and two frameshift variants (c.176del, p.(Gly59Valfs*13) and c.230dup, p.(Ala78Serfs*52)).ConclusionsRCD in Usher 3A syndrome has some distinctive features. It is a severe photoreceptor dystrophy with whitish granular posterior pole appearance and cystic maculopathy.

Case of Methylmercury Poisoning

Since the early 1960’s the Asubpeeschoseewagong Netum Anishinabek in Northern Ontario have been living with the consequences of chronic methylmercury poisoning. From 1962 to 1970, mercury waste was dumped into the English-Wabigoon river upstream from Grassy Narrows First Nation, contaminating the water and the fish within. In 1970, inappropriate mercury disposal was ceased, commercial fishing was prohibited, and individuals were advised not to consume fish from the river. These restrictions and their consequences profoundly affected the economic, cultural and medical wellbeing of the Asubpeechoseewagong people. Methylmercury poisoning, coined Minamata disease in Japan, has been one medical consequence of this pollution. Minamata disease describes irreversible damage to the central nervous system as a result of methylmercury poisoning, including lesions in the cerebellum, anterior calcarine cortex, and surrounding the central sulcus. Individuals commonly experience somatosensory disturbances and distal paresthesia, cerebellar ataxia and dysarthria, and visual field constriction. This case report will describe a young Asubpeechoseewagong person suffering the early consequences of methylmercury poisoning. Subsequently, the history of Minamata disease in Ontario, the pathophysiology of methylmercury poisoning, and investigations and management will be discussed. It is important to note that the story of this case is not a historical perspective. The Grassy Narrows First Nation continue to live with the results of this profound environmental injustice. In the words of Chief Simon Fobister, “we must not deny another generation of our children a bright future by refusing to clean our river.”

Usher Syndrome with Posterior Subcapsular Cataract

Introduction: Usher Syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural deafness and progressive loss of vision due to retinitis pigmentosa. The aim of this report is to report rare cases of USH by perform diagnostic steps based on clinical examination and family history with expectations that if a similar case is found, an earlier diagnosis and rehabilitation can be done. Methods: Diagnosis is based on history, ophthalmology examination and ear, nose, and ear (ENT) examination. Results: A 23-year-old man came to the Ophthalmology Outpatient Department with complaints of bilateral blurred vision especially at night and visual field constriction starting 12 years ago. The patient experienced gradual vision deterioration followed by appearance of white spot in his left eye. Patient is deaf and mute since birth. Three family members of the paternal line exhibit the same symptoms. The best corrected visual acuity was right eye 6/15 and left eye hand movement. Bilateral cataract was found during eye examination. Posterior segment examination revealed peripheral bone spiculae appearance and waxy pallor optic disc in both eyes. Loss of neurosensory layer, worse in the left eye, was discovered through Optical Coherence Tomography (OCT). Humphrey perimetry of the right eye indicated tunnel vision. Examination by otorhinolaryngologist revealed a sensorineural hearing loss. In this patient, there is no management for the disorders due to the poor prognosis of visual acuity. What can be done to improve the patient's quality of life is supportive therapy. It is important to screen and educate families suffering from the same disorder for early diagnosis &amp; rehabilitation. Conclusion: Clinical examination and family history confirm the diagnosis of USH. Early diagnosis and early rehabilitation are essential to improve patient's quality of life. In this case, no management was carried out for the cataracts because the visual acuity of both eyes did not match the cloudiness of the lens so there are possibility the visual acuity could not improve. Rehabilitations that can be done for the patients are visual and social rehabilitation to improve quality of life.