Giving Support and Suicidal Ideation in Older Adults with Vision-Related Diagnoses.

Objectives: Visual impairment in older adults may increase risk for depression and suicide. Research suggests that giving support to others may be associated with lower depressive symptoms in older adults, but much of the research has been in non-clinical populations. Furthermore, there is limited research on giving support and suicide risk.Methods: Using a sample of older adults with vision-related diagnoses (N = 101), this study investigated the association between informal support giving (unpaid support given to family, friends, or neighbors) and formal support giving (volunteering) on depressive symptoms and suicidal ideation. Linear regressions examined the relation between support giving and depression, and logistic regressions examined the relation between support giving and suicidal ideation.Results: Greater informal support giving was related to lower likelihood of reported suicidal ideation (OR: .82, 95% CI: .68-.99, p = .04), whereas volunteer activity was not significantly related to suicidal ideation. Neither volunteer behavior nor informal support giving was related to depressive symptoms.Conclusions: Providing informal support was associated with lower likelihood of endorsing suicidal ideation in older adults with vision impairment.Clinical Implications: Informal support giving may be a target for decreasing suicidal ideation among older adults with health impairments.

Predicting visual function after an ocular bee sting.

PURPOSE: To report a case of toxic optic neuropathy caused by an ocular bee sting. METHODS: Case report and literature review. RESULTS: A 44-year-old female presented with no light perception vision 2 days after a corneal bee sting in her right eye. She was found to have diffuse cornea edema with overlying epithelial defect and a pinpoint penetrating laceration at 6 o'clock. There was an intense green color to the cornea. The pupil was fixed and dilated with an afferent pupillary defect. A small hyphema was seen, and a dense white cataract had formed. A diagnosis of toxic endophthalmitis with associated toxic optic neuropathy was made. The patient underwent pars plana vitrectomy and lensectomy with anterior chamber washout. She was also placed on systemic broad-spectrum antibiotics. She had noted clinical improvement over the course of her hospitalization and was discharged with light perception vision. A corneal opacity precluded viewing of the fundus. We utilized ganzfeld electroretinography and flash visual evoked potentials (2 and 10 Hz) to assess the visual function. Both tests were normal and predicted improvement following restorative surgery. She underwent a secondary lens implantation with penetrating keratoplasty 7 months later. This was followed by an epiretinal membrane peel 1 year after the bee sting. Her best corrected visual acuity improved to 20/80. CONCLUSION: Toxic endophthalmitis and toxic optic neuropathy can be complications of ocular bee sting. We discuss the management of this rare occurrence and the role of electroretinographic testing and visual evoked potentials in predicting visual outcome.

Visual function affects prosocial behaviors in older adults.

Eye-related pathological conditions such as glaucoma, diabetic retinopathy, and age-related macular degeneration commonly lead to decreased peripheral/central field, decreased visual acuity, and increased functional disability. We sought to answer if relationships exist between measures of visual function and reported prosocial behaviors in an older adult population with eye-related diagnoses. The sample consisted of adults, aged ≥ 60 years old, at an academic hospital's eye institute. Vision ranged from normal to severe impairment. Medical charts determined the visual acuities, ocular disease, duration of disease (DD), and visual fields (VF). Measures of giving help were via validated questionnaires on giving formal support (GFS) and giving informal support; measures of help received were perceived support (PS) and informal support received (ISR). ISR had subscales: tangible support (ISR-T), emotional support (ISR-E), and composite (ISR-C). Visual acuities of the better and worse seeing eyes were converted to LogMAR values. VF information converted to a 4-point rating scale of binocular field loss severity. DD was in years. Among 96 participants (mean age 73.28; range 60-94), stepwise regression indicated a relationship of visual variables to GFS (p < 0.05; Multiple R (2) = 0.1679 with acuity-better eye, VF rating, and DD), PS (p < 0.05; Multiple R (2) = 0.2254 with acuity-better eye), ISR-C (p < 0.05; Multiple R (2) = 0.041 with acuity-better eye), and ISR-T (p < 0.05; Multiple R (2) = 0.1421 with acuity-better eye). The findings suggest eye-related conditions can impact levels and perceptions of support exchanges. Our data reinforces the importance of visual function as an influence on prosocial behavior in older adults.

Autosomal Dominant Retinitis Pigmentosa Secondary to TOPORS Mutations: A Report of a Novel Mutation and Clinical Findings.

Purpose: Mutations in Topoisomerase I-binding RS protein (TOPORS) have been previously documented and have been described to result in pathological autosomal dominant retinitis pigmentosa (adRP). In our study, we describe the various genotypes and clinical/phenotypic manifestations of TOPORS-related mutations of our unique patient population in Rural Appalachia. Methods: The medical records of 416 patients with inherited retinal disease at the West Virginia University Eye Institute who had undergone genetic testing between the years of 2015-2022 were reviewed. Patients found to have pathologic RP and mutations related to TOPORS were then analyzed. Results: In total, 7 patients (ages 12-70) were identified amongst three unique families. All patients were female in our study. The average follow-up period was 7.7 years. A mother (70 yr) and daughter (51 yr) had a novel heterozygous nonsense point mutation in TOPORS c.2431C > T, p.Gln811X (Exon 3) that led to premature termination of the desired protein resulting in early onset vision loss, cataract formation, and visual field restriction. The mother developed a full-thickness macular hole which was successfully repaired. Five other patients were found to have previously described TOPORS mutations. Visual field loss was progressive with age in both cohorts. Conclusions: Seven patients at our institution were identified to have mutations in TOPORS resulting in autosomal dominant retinitis pigmentosa. Two patients were found to have novel truncating mutations in the TOPORS gene resulting in profound night blindness and visual field loss, recurrent macular edema, and in one individual, epiretinal membrane formation leading to a macular hole which was able to be successfully repaired.

Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up.

This case report presents a 26-year-old female patient diagnosed with fundus albipunctatus (FAP), a rare form of congenital stationary night blindness. The patient's clinical history and retinal findings spanning 23 years are consistent with FAP. The patient has profound night blindness, photophobia, and mild color vision changes with preserved best-corrected visual acuity (BCVA). Small white dots are present throughout the fundus, sparing the central macula. Electroretinograms (ERG) are consistent with congenital stationary night blindness (CSNB) and suggest a lack of rod response. Ophthalmic imaging has remained stable over time. Genetic testing revealed two biallelic missense mutations in the LRAT gene, c.197G>A (p.Gly66Glu) and c.557A>C (p.Lys186Thr). LRAT mutations are known to contribute to other retinal conditions but have not been previously associated with FAP. While there are currently no available treatments for FAP, this report expands our understanding of the genetic landscape of FAP to include LRAT and provides clinical data to support this finding.

Case Series on Autosomal Recessive Non-Syndromic Retinitis Pigmentosa Caused by POMGNT1 Mutations with a Report of a New Variant.

Recessive Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) mutations can cause early onset muscle-eye-brain disease but have also more recently been associated with non-syndromic Retinitis Pigmentosa. In this case series, we describe three sisters affected by non-syndromic autosomal recessive POMGNT1 retinopathy with a report of a new variant. The three patients received care at West Virginia University Eye Institute, including full ophthalmic examination with additional fundus imaging, optical coherence tomography (OCT), electroretinogram (ERG), and visual field testing. Diagnostic panel testing of 330 genes was also obtained. The proband was seen for cataract evaluation at age 42, and her fundus examination was suggestive of retinitis pigmentosa. Her oldest sister had been treated for acute anterior uveitis with retinal vasculitis. Another sister was diagnosed with multiple sclerosis (MS) and peripheral retinal degeneration. Posterior subcapsular cataracts were diagnosed between age 42 and 55 in all three sisters, each with constricted fields with preserved central vision. We identified one pathogenic POMGNT1 variant (c.751 + 1G > A) and one likely pathogenic variant (c.1010T > C p.Ile337Thr) in all three sisters. A thorough family history and examination of the siblings with genotyping might have led to an earlier diagnosis of retinal inherited disease and avoidance of immunomodulatory treatment in the oldest sibling.

Five-Year Follow-Up of Repeated Intravitreal Bevacizumab for Macular Edema in a Pediatric Patient with Retinal Arteriovenous Malformation and Excellent Vision.

We report a case of a 9-year-old girl presenting with unilateral retinal arteriovenous malformation (AVM) with symptomatic macular edema. Over 5 years of follow-up includes optical coherence tomography (OCT), fundus photographs, and fluorescein angiography at baseline and at follow-up. Systemic and neurologic workup was completed and negative for intracranial AVM. Vision has correlated with macular edema, ranging from 20/20 to 20/80. The patient has received nine injections of intravitreal bevacizumab and has not required an injection for the last couple of years. Follow-up is ongoing.

NONSURGICAL RESOLUTION OF FULL-THICKNESS MACULAR HOLES WITHOUT VITREOMACULAR TRACTION.

BACKGROUND/PURPOSE: The purpose of this study was to report a case series of full-thickness macular holes without vitreomacular traction that resolved without surgery. METHODS: This study is a retrospective case series of 11 patients who demonstrated closure of full-thickness macular holes without surgical intervention. RESULTS: All full-thickness macular holes closed, with all patients having improvement in visual acuity. All but one of the cases had visual acuity better than 20/40 at last recorded visit. Most cases presented with associated epiretinal membrane (73%), cystoid changes (64%), defects <150 µ m (80%), and resolved within 2 months (91%). Topical anti-inflammatory drops were used in 7 of 11 cases, and dorzolamide was used in one case. CONCLUSION: Full-thickness macular holes can develop in eyes without the presence of vitreomacular traction. Topical therapy without vitrectomy may be particularly helpful in closure of full-thickness macular holes with associated cystoid macular edema. Holes with a lamellar hole component may spontaneously resolve as part of a retinal remodeling process.

De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity.

We report the ocular findings of a Caucasian female with papillorenal syndrome (PAPRS) from a de novo PAX2 mutation. She presented to our clinic with early-onset end-stage renal disease. Ophthalmologic exam revealed bilateral band keratopathy, abnormal optic disc configuration, and Elschnig spots, with preserved visual acuity. Genomic sequencing revealed a heterozygous nonsense PAX2 mutation (C > G p. (Tyr73*) at position 219 in exon 3) associated with PAPRS. Parents of the proband did not display phenotypic features of PAPRS and were confirmed to be without the PAX2 mutation.

Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation.

BACKGROUND AND OBJECTIVE: This study aims to provide clinical characterization of PROM1 mutation with a report of novel mutation. PATIENTS AND METHODS: This study is a retrospective case series of six patients from a single institution with multimodal imaging, electroretinography, and genetic testing. RESULTS: Six patients aged 12 to 47 years were identified. Patients with autosomal recessive (AR) variants showed more severe panretinal dystrophy with symmetrical macular involvement and peripheral retinal pigment epithelium atrophy. The autosomal dominant (AD) variants, on the other hand, showed milder macular involvement with bull's eye maculopathy phenotype with minimal peripheral involvement. Among patients with AR variants, a younger patient with aberrant splicing showed a milder phenotype compared with patients with a nonsense mutation and an additional ABCA4 mutation. CONCLUSION: The authors describe patients with PROM1 retinopathy inherited AD and AR inherited patterns. Novel mutations of c.1909C>T and c.2050C>T were identified, leading to truncation of the protein at sequence p.Gln637* and p.Arg684*, respectively. [Ophthalmic Surg Lasers Imaging Retina 2022;53:422-428.].

Multiple organ dysfunction syndrome and disseminated intravascular coagulation causing extensive multiple Amalric triangular choroidal infarctions.

PURPOSE: To present a case of extensive bilateral choroidal infarctions from multiple organ dysfunction syndrome (MODS) and disseminated intravascular coagulation (DIC). METHODS: A retrospective case report. The medical and imaging records, including fundus photography, optical coherence tomography, fluorescein angiography and visual fields were reviewed. PATIENT: A 49-year-old female presented after a failed suicidal attempt from drug overdose. The patient was subsequently intubated for acute hypoxic respiratory failure with presumed septic shock from aspiration pneumonia while requiring exogenous adrenergic support. Her hospital course was further complicated by development of multiple organ dysfunction syndrome and disseminated intravascular coagulation. The patient complained of blurry vision in both eyes after regaining consciousness. RESULTS: Fundus photography showed bilateral dot-blot hemorrhages and cotton wool spots followed by multiple areas of triangular granular pigmentation, consistent with choroidal infarcts. Fluorescein angiography revealed delayed patchy filling, followed by late staining. Optical coherence tomography showed diffuse thinning of the choroid with overlying retina pigment epithelium atrophy. Goldmann visual field displayed discrete areas of visual field deficits. At the most recent visit, the best corrected final visual acuity remained 20/100 OD and 20/30 OS. CONCLUSION: DIC has been associated with choroidal infarcts. We present a case of extensive bilateral choroidal infarction in a patient with combined DIC and MODS consistent with Amalric choroidal triangular sign.

Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

PURPOSE: To report 11 cases of autosomal recessive vitelliform macular dystrophy and to compare their molecular findings and phenotypic characteristics with those of patients with the more common and well-described dominant form of the disease. METHODS: Blood samples were obtained from 435 unrelated individuals with a clinical diagnosis of vitelliform macular dystrophy and screened for mutations in the coding sequences of BEST1. Medical records and retinal photographs of selected patients were reviewed. RESULTS: Nine of the 435 probands were found to have 2 plausible disease-causing variations in BEST1, while 198 individuals were found to have heterozygous variations compatible with autosomal dominant inheritance. Inheritance phase was determined in three of the recessive families. Six novel disease-causing mutations were identified among these recessive patients: Arg47Cys, IVS7-2A>G, IVS7+4G>A, Ile205del12ATCCTGCTCCAGAG, Pro274Arg, and Ile366delCAGGTGTGGC. Forty-four novel disease-causing mutations were identified among the patients with presumed autosomal dominant disease. The phenotype of patients with recessive alleles for BEST1 ranged from typical vitelliform lesions to extensive extramacular deposits. CONCLUSION: The authors provide evidence that two abnormal BEST1 alleles, neither of which causes macular disease alone, can act in concert to cause early-onset vitelliform macular dystrophy.

New Insights Into Pentosan Polysulfate Maculopathy.

BACKGROUND AND OBJECTIVE: To provide new insights into toxic maculopathy secondary to pentosan polysulfate (PPS) utilizing multimodal testing. PATIENTS AND METHODS: Retrospective case-series of four patients from two academic centers evaluated with multimodal imaging, electrophysiology, dark adaptometry (DA), and genetic testing. RESULTS: Median age was 58 years, exposure to PPS was 18.5 years, and cumulative dose of was 2,025 grams. Seven of eight eyes had visual acuity of 20/40 or better. Optical coherence tomography (OCT) angiography demonstrated increased choriocapillaris flow voids (54.25%) in cases compared to controls (13.2%). Two subjects had abnormal foveal avascular zone configurations. Two subjects demonstrated collapse of the retinal pigment epithelium nodular excrescences and progressive retinal thinning over 4 to 5 years on OCT. Electrophysiology was normal (3/3 patients), but DA was delayed (2/2 patients). CONCLUSIONS: The authors describe novel findings of PPS maculopathy, including flow voids in the choriocapillaris. Progressive retinal thinning may suggest a secondary retinal effect. These findings may improve understanding of the pathophysiology. [Ophthalmic Surg Lasers Imaging Retina. 2021;52:13-22.].

A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy.

The authors describe a family of three related individuals with a previously unreported mutation in the PRPH2 gene (C213W), which is associated with pattern dystrophy simulating fundus flavimaculatus. Four eyes later developed exudative maculopathy with choroidal neovascularization, which required injections of intravitreal anti-vascular endothelial growth factor (VEGF). This study reports the effectiveness of anti-VEGF therapy and long-term follow-up data in a family with a C213W mutation in the PRPH2 gene. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:354-362.].

A rare case of occlusive juxtafoveolar retinal telangiectasias associated with lesions of the central nervous system: A cerebroretinal vasculopathy like phenotype without mutations in the TREX1 gene.

PURPOSE: To report a rare case of bilateral occlusive juxtafoveolar retinal telangiectasias associated with central nervous system lesions and renal impairment. OBSERVATIONS: A 47-year-old woman presented to clinic with subjective vision loss in the right eye with best-corrected visual acuity (BCVA) 20/80. Fundoscopic examination, fluorescein angiography (FA), and optical coherence tomography with adjunct angiography (OCT/OCT-A) revealed macular microhemorrhages, enlarged foveal avascular zones (FAZ), and occlusive juxtafoveal telangiectasis with pruning of the macular capillaries in both eyes. Patient subsequently developed memory loss, dizziness, nystagmus, and diplopia secondary to intermittent exotropia. She was found to have a two-millimeter aneurysm of the proximal posterior cerebellar artery along with several scattered white matter changes on brain magnetic resonance imaging (MRI). Genetic workup revealed no mutations in the TREX1 gene. With continued surveillance over 18 months, the patient's BCVA deteriorated to 20/200 OU and she developed mild renal impairment, without further CNS complications. CONCLUSION AND IMPORTANCE: Patients who present with vision loss secondary to occlusive juxtafoveolar telangiectasias should undergo imaging of the central nervous system (CNS) for architectural abnormalities in cerebral vasculature and white matter. Further investigation of patients with the Gass-Blodi type 3 macular telangiectasia - cerebroretinal vasculopathy phenotype is required to optimize management protocols for both retinal and CNS lesions. At this time, no interventions have demonstrated clear benefit in vision preservation or recovery.

Intravitreal bevacizumab for the treatment of choroidal neovascularization secondary to pseudotumor cerebri.

BACKGROUND: In pseudotumor cerebri (PTC), elevated intracranial pressure (ICP) results in papilledema and, rarely, choroidal neovascularization (CNV). Pseudotumor cerebri-induced CNV often regresses following medical or surgical ICP reduction, but additional treatments, such as photocoagulation, photodynamic therapy, peri-ocular steroid injections and/or subretinal surgery, may be necessary. Anti-angiogenic intravitreal injections have been shown to cause regression of both CNV and optic nerve edema. CASE REPORT: We describe a patient with PTC and CNV whose CNV regressed and vision normalized after a single intravitreal injection of bevacizumab (Avastin; Genentech, San Francisco, CA).

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.

Purpose: We describe the clinical features in two pedigrees with dominantly inherited retinopathy segregating the previously reported frameshifting mutation, c.836dupG (p.Ile280Asn*78) in the terminal exon of the RGR gene, and compare their haplotypes to that of the previously reported pedigree. Methods: The probands were ascertained at West Virginia University Eye Institute (WVU) and Moorfields Eye Hospital (MEH) through next generation sequencing (NGS) and whole genome sequencing (WGS) respectively. Clinical data included visual acuity (VA), visual fields, fundus autofluorescence (FAF), optical coherence tomography (OCT), and electroretinography (ERG). Haplotype analysis was performed using Sanger sequencing of the DNA from the molecularly ascertained individuals from the three pedigrees. Results: Nine heterozygous mutation carriers were identified in two families. Four carriers were asymptomatic; five carriers had variable VA reduction, visual field constriction, and experienced difficulty under dim illumination. Fundus examination of the asymptomatic carriers showed diffuse or reticular pigmentation of the retina; the symptomatic carriers had chorioretinal atrophy. FAF imaging showed widespread signal loss in advanced retinopathy, and reticular hyperautofluorescence in mild cases. OCT showed loss of outer retinal lamina in advanced disease. ERG showed moderate-to-severe rod-cone dysfunction in two symptomatic carriers; and was normal in three asymptomatic carriers. A shared haplotype flanking the mutation of up to 6.67 Mb was identified in both families. Within this region, 1.27 Mb were shared with the first family reported with this retinopathy. Conclusions: The clinical data suggest a variable and slow degeneration of the RPE. A shared chromosomal segment surrounding the RGR gene suggests a single ancestral mutational event underlying all three families.

Fulminant idiopathic intracranial hypertension and venous stasis retinopathy resulting in severe bilateral visual impairment.

PURPOSE: To report a complicated case of fulminant idiopathic intracranial hypertension and concomitant venous stasis retinopathy leading to postpapilledema optic atrophy. METHODS: Case report. RESULTS: A 34-year-old morbidly obese woman with a history of idiopathic intracranial hypertension (IIH) presented with a 1-month history of bilateral vision loss, diplopia, and left eye pain after being lost to follow-up for 6 years. Fundus examination revealed florid papilledema with venous tortuosity bilaterally. Brain and orbit magnetic resonance imaging showed bilateral globe flattening, intraocular optic nerve swelling in both eyes, and no abnormality on magnetic resonance venography. After additional workup including lumbar puncture with an opening pressure of 55 cm H2O, a diagnosis of IIH was confirmed. Medical treatment with oral carbonic anhydrase inhibitors was initiated, followed by same-day bilateral optic nerve sheath decompression and ventriculoperitoneal shunt placement the following week. Fundus examination 2 months later revealed a persistent blood and thunder fundus suggestive of bilateral central retinal vein occlusions. Over the course of 6 months, both eyes displayed postpapilledema optic atrophy with light perception and hand motion vision in the right and left eyes, respectively. On Goldmann perimetry, the patient had vague limited isolated responses in both eyes to the largest target. CONCLUSIONS: Fulminant IIH can present with profoundly blinding complications recalcitrant to aggressive medical and surgical intervention. Central retinal vein occlusion is an uncommon blinding complication of IIH.

Bilateral maculopathy in a patient with ataxia telangiectasia.

We report a case of toxoplasmosis with bilateral maculopathy in a 7-year-old boy diagnosed with ataxia telangiectasia (AT) at age 6. AT manifests as ataxia, apraxia, telangiectasia, and dysarthria. Common ophthalmologic findings in AT include fine conjunctival telangiectasia. Patients also suffer from recurrent sinopulmonary infections; however, serious opportunistic infection is rarely diagnosed. At 8 years of age he developed disseminated Toxoplasma gondii (toxoplasmosis) infection and meningoencephalitis. This ophthalmologic finding and the subsequent toxoplasmosis meningoencephalitis have not been previously reported in AT.

A UNIQUE CASE OF ACUTE MACULAR NEURORETINOPATHY ASSOCIATED WITH COTTON WOOL SPOTS AND INTRARETINAL FLUID.

PURPOSE: To discuss the clinical findings in a unique case of acute macular neuroretinopathy with a focus on the pathophysiology of this rare entity. METHODS: The patient's clinical course was documented with color fundus photography and spectral domain ocular coherence tomography registered to infrared reflectance imaging. The visual field was assessed using the Amsler grid testing and Humphrey visual field 24-2. RESULTS: Initial fundus photography showed cotton wool spots and slight darkening of the central macula in each eye. Optical coherence tomography showed initial hyperreflective plaques at the level of the outer plexiform layer/outer nuclear layer junction with subsequent thinning of the outer nuclear layer and corresponding disruption of the ellipsoid and outer segment/retinal pigment epithelium. Infrared reflectance imaging revealed perifoveal hyporeflective lesions in each eye with corresponding visual field defects on the Amsler grid and visual field testing. The hyporeflective infrared lesions became more discreet during the ensuing weeks and remained stable beyond 11 weeks. CONCLUSION: The authors present the case of a 15-year-old girl diagnosed with acute macular neuroretinopathy. This case is notable in that she presented with cotton wool spots and intraretinal fluid, both of which are unusual for acute macular neuroretinopathy. The authors suggest that the presence of cotton wool spots and several small foci of intraretinal fluid seen in their patient may lend support to the ischemic hypothesis described by Sarraf et al. The optical coherence tomography images obtained in this case have the typical wedge-shaped or petaloid configuration, and the authors suggest that the shape of the lesions themselves also lends support to a vascular mechanism.