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Express Medicine—Potential for Home-Based Medical Care
Yizhi Liu, MD; Yingfeng Zheng, MD; Neil M. Bressler, MD
doi : 10.1001/jamaophthalmol.2020.5981
JAMA Ophthalmol. 2021;139(3):269-270
This Viewpoint describes the potential for express medicine, a kind of telehealth involving the delivery and use of disease-monitoring equipment, such as optical coherence tomography machines, in a patient’s home.
Evaluation of a Home-Printable Vision Screening Test for Telemedicine
Michael D. Crossland, PhD; Tessa M. Dekker, PhD; Joanne Hancox, MBBS; et al.
doi : 10.1001/jamaophthalmol.2020.5972
JAMA Ophthalmol. 2021;139(3):271-277
This diagnostic study evaluates the repeatability of vision measured using the Home Acuity Test and the agreement between the Home Acuity Test results and the last in-clinic visual acuity among ophthalmology outpatients in the United Kingdom.
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort
Vasily M. Smirnov, MD; Marco Nassisi, MD; Cyntia Solis Hernandez, MD; et al.
doi : 10.1001/jamaophthalmol.2020.6089
JAMA Ophthalmol. 2021;139(3):278-291
This case series provides a detailed description of the retinal phenotype of autosomal recessive nonsyndromic inherited retinal disease harboring biallelic CLN3 pathogenic variants.
Progression of Myopia in School-Aged Children After COVID-19 Home Confinement
Jiaxing Wang, MD, PhD; Ying Li, MD, PhD; David C. Musch, PhD, MPH; et al.
doi : 10.1001/jamaophthalmol.2020.6239
JAMA Ophthalmol. 2021;139(3):293-300
This cross-sectional study compares the prevalence of myopia in school-aged children 5 years before the COVID-19 pandemic with the prevalence during home confinement due to the pandemic.
Association of Metformin Use With Age-Related Macular DegenerationA Case-Control Study
Andrea L. Blitzer, MD; Sandra A. Ham, MS; Kathryn A. Colby, MD, PhD; et al.
doi : 10.1001/jamaophthalmol.2020.6331
JAMA Ophthalmol. 2021;139(3):302-309
This case-control study uses a national database to assess whether metformin use is associated with reduced odds of developing age-related macular degeneration.
Association of a Health Coaching and Transportation Assistance Intervention at a Free Ophthalmology Homeless Shelter Clinic With Follow-up Rates
Lauren Hennein, MD; Alejandra G. de Alba Campomanes, MD, MPH
doi : 10.1001/jamaophthalmol.2020.6373
JAMA Ophthalmol. 2021;139(3):311-316
This cohort study investigates the association of health coaching and transportation vouchers with follow-up rates at a free ophthalmology homeless shelter clinic.
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration
Lewis E. Fry, MBBS, BMedSc; Michelle E. McClements, PhD; Robert E. MacLaren, DPhil
doi : 10.1001/jamaophthalmol.2020.6418
JAMA Ophthalmol. 2021;139(3):319-328
This cross-sectional study uses data from the Oxford Medical Genetics Laboratory, the Leiden Open Variation Database, and previous studies to assess pathogenic single-nucleotide variants amenable to base editing in common recessive genes associated with inherited retinal degeneration.
Longitudinal Assessment of Retinal Thinning in Adults With and Without Sickle Cell Retinopathy Using Spectral-Domain Optical Coherence Tomography
Jennifer I. Lim, MD; Marcia Niec, BS; Jie Sun, MD; et al.
doi : 10.1001/jamaophthalmol.2020.6525
JAMA Ophthalmol. 2021;139(3):330-337
This case-control study assesses the rates of retinal thinning in adults with and without sickle cell retinopathy using spectral-domain optical coherence tomography and examines ocular and systemic risk factors associated with retinal thinning.
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy
Moustafa S. Magliyah, MD; Sinje Geuer, PhD; Abrar K. Alsalamah, MD; et al.
doi : 10.1001/jamaophthalmol.2020.6085
JAMA Ophthalmol. 2021;139(3):339-343
This cohort study describes the association between an autosomal recessive macular dystrophy with a recurrent variant in CLN5.
Visual Acuity Testing for Telehealth Using Mobile Applications
Benjamin J. Steren, BA; Benjamin Young, MD; Jessica Chow, MD
doi : 10.1001/jamaophthalmol.2020.6177
JAMA Ophthalmol. 2021;139(3):344-347
This diagnostic study examines the accuracy and usability of visual acuity–testing apps available in the US Apple App Store.
Pediatric Eye Injuries by Hydroalcoholic Gel in the Context of the Coronavirus Disease 2019 Pandemic
Gilles C. Martin, MD, MSc; Gael Le Roux, PharmD; Damien Guindolet, MD, PhD; et al.
doi : 10.1001/jamaophthalmol.2020.6346
JAMA Ophthalmol. 2021;139(3):348-351
This study investigates the potential increase of pediatric eye exposures to alcohol-based hand sanitizer since the start of the coronavirus disease 2019 pandemic.
Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases
Elias I. Traboulsi, MD, MEd
doi : 10.1001/jamaophthalmol.2020.6105
JAMA Ophthalmol. 2021;139(3):291-292
This issue of JAMA Ophthalmology contains 2 articles1,2 that emphasize the occurrence of a predominant ocular phenotype in adult patients with 2 forms of neuronal ceroid lipofuscinosis (NCL), which is classically recognized as a group of severe neurodegenerative disorders of childhood. Smirnov et al1 demonstrate the presence of a phenotype-genotype correlation in 15 adult patients with biallelic pathogenic variants in CLN3 drawn from a cohort of 1533 patients and described as having nonsyndromic inherited retinal disease. The authors1 divide them into 2 groups: 6 patients with mild rod-cone degeneration of middle-aged onset and legal blindness in their 70s and 9 patients with a severe retinal degeneration involving early macular atrophic changes and legal blindness by their 40s. While none of the patients reportedly had any neurological symptoms, the details of their neurological workups and specific questions about mental functions that are generally affected in NCL are lacking. No investigations of cardiac function or the spine, both recently recognized as affected organs in NCL type 3,3 were conducted. Also, the authors did not compare retinal findings among siblings in the 4 sibships in this report.1 If the clinical course of the disease is consistent within pedigrees, this will give even more credence to their demonstration that the CLN3 pathogenic variants in these 2 groups of patients are associated with phenotypes that are milder than those of patients with classic juvenile NCL. Patients with classic juvenile NCL or Batten disease present with rapidly progressive loss of visual acuity followed by neurological deterioration in the first decade of life and demise as young adults.4 Of the patients with this phenotype, 73% are homozygous for a common homozygous deletion variation of 966 basepairs involving exons 7 and 8 of CLN3, as opposed to the mostly missense CLN3 variations in the 15 patients1 with a predominant retinal phenotype.5 Furthermore, the gene sequence variants in the milder cases were distinct from those in the more severe cases, indicating an even more refined genotype-phenotype correlation.
2020 as the Year of Quarantine Myopia
Caroline C. W. Klaver, MD, PhD; Jan Roelof Polling, BSc; Clair A. Enthoven, MSc
doi : 10.1001/jamaophthalmol.2020.6231
JAMA Ophthalmol. 2021;139(3):300-301
although reports on coronavirus disease 2019 (COVID-19) affecting health already exceed 32?000 articles, studies on direct effects on the eye appear to be limited.1 Conjunctivitis, retinitis, episcleritis, and optic neuritis have all been described as ocular manifestations, but frequency and morbidity are fortunately not striking. This has relieved us as ophthalmologists and given the impression that we have been spared a heavy patient load attributable to COVID-19 complications. We have focused on reorganizing our clinics and made sure that anti–vascular endothelial growth factor treatments and other urgent patient care were not obstructed.
Is There a Case for Case-Control Studies in the Exploration of Retrospective Data Sets?
Myra B. McGuinness, MBiostat, PhD; Jessica Kasza, BSc(Hons), PhD; Robyn H. Guymer, MBBS, PhD
doi : 10.1001/jamaophthalmol.2020.6328
JAMA Ophthalmol. 2021;139(3):309-310
In this issue of JAMA Ophthalmology, Blitzer and coauthors1 present findings from a large national database of health insurance claims that are suggestive of an association of metformin with protection against age-related macular degeneration (AMD). Given the burden of vision impairment secondary to advanced AMD, the lack of proven therapies for atrophic AMD, and the burden of treatment associated with neovascular AMD, interventions aimed at preventing AMD are urgently needed. As such, the findings reported1 are of great interest. While the authors hypothesize about the role of metformin as a potential intervention for AMD, the results need to be cautiously interpreted in line with the limitations that are at play when conducting case-control studies with administrative data, as acknowledged by the authors.1
Moving From Just “Thinking Outside the Box” to Doing
Christopher J. Brady, MD, MHS; Yao Liu, MD, MS
doi : 10.1001/jamaophthalmol.2020.6374
JAMA Ophthalmol. 2021;139(3):317-318
In his interview at the 2020 American Academy of Ophthalmology Annual Meeting, the influential author Malcolm Gladwell recounted the many ways in which the coronavirus disease 2019 pandemic has held an unflattering mirror up to the deep inequities that exist in our society. He challenged medical professionals to do more to help underserved communities—not just by volunteering their individual services but to actively find creative solutions to address major health disparities and to improve patient outcomes on a larger scale.
Strategies for Treating Inherited Retinal Degeneration With Large Genes That Are Not Amenable to Adeno-Associated Virus–Based Gene Replacement Therapy
Paul Yang, MD, PhD; Mark E. Pennesi, MD, PhD; Richard G. Weleber, MD
doi : 10.1001/jamaophthalmol.2020.6427
JAMA Ophthalmol. 2021;139(3):328-329
Monogenic inherited retinal degeneration (IRD) occurs from variations in genes associated with critical biochemical or physiological pathways necessary for normal function of outer retinal cells, which, when deficient, create disease with substantial visual loss in patients. Gene replacement (or augmentation) therapy involves transporting a good copy of the defective gene along with a promoter to the affected cells of the retina, most often requiring vitreoretinal surgery and subretinal injection. The ideal gene for augmentation is one with a function that is either enzymatic or involves a single biochemical pathway, although the gene and promoter must also be small enough to fit within the 4.7-kilobase carriage capacity of an adeno-associated virus (AAV), which is the vector used for most currently active gene augmentation clinical trials. The AAV platform was first reported to be successful for IRD gene augmentation therapy when the US Food and Drug Administration approved Luxturna for the treatment of retinitis pigmentosa or Leber congenital amaurosis associated with biallelic variations in the retinoid isomerohydrolas gene, RPE65 (OMIM 180069), in 2017.1 Other IRDs currently undergoing gene augmentation clinical trials using AAV include the achromatopsia genes (cyclic nucleotide-gated channel, alpha-3 [CNGA3; OMIM 600053] and cyclic nucleotide-gated channel, beta-3 [CNGB3; OMIM 605080]), the choroideremia gene (CHM; OMIM 300390), the X-linked retinitis pigmentosa gene (retinitis pigmentosa GTPase regulator [RPGR; OMIM 312610]), the X-linked retinoschisis gene (retinoschisin [RS1; OMIM 300839]), and retinitis pigmentosa associated with the phosphodiesterase 6B, cGMP-specific, rod, beta gene, PDE6B (OMIM 180072). However, there are many other larger IRD genes that exceed the carriage capacity of AAV. The equine infectious anemia virus has a higher carriage capacity and has been developed for clinical trials of gene augmentation therapy for Usher syndrome, type 1B (myosin 7A [MYO7A; OMIM 276903]) and Stargardt disease (ATP-binding cassette, subfamily A, member 4 [ABCA4; OMIM 601691]); however, both early-phase clinical trials are currently closed to enrollment because of administrative changes. Thus, the equine infectious anemia virus platform remains an unproven strategy. Other promising AAV-based augmentation strategies adapted for large IRD genes that are currently in preclinical development include the dual-vector and minigene approaches.2,3
Sickle Cell Disease and the Eye—Everything Old Is New Again
Adrienne W. Scott, MD
doi : 10.1001/jamaophthalmol.2020.6526
JAMA Ophthalmol. 2021;139(3):337-338
In 1971, Goldberg1 published the eponymous sickle cell retinopathy staging system, which was based on astute clinical observations along with an observed sequential pattern of vascular remodeling in the peripheral retinas of patients with sickle cell disease (SCD). This description of sea fan neovascularization in proliferative sickle retinopathy has arguably produced one of the most recognizable systemic disease associations in the field of ophthalmology and certainly in the retina. What is not as widely cited is the early recognition of the macular vascular changes in patients with SCD in the study by Goldberg and colleagues.2 In 1974, these authors described pathologic avascular zones in the areas temporal to the fovea, changes in normal foveal architecture, and abnormalities in the macular microvasculature in patients, deemed sickling maculopathy.
Limitations of Measuring Visual Acuity With Remote Applications
Jeff C. Rabin, OD, MS, PhD
doi : 10.1001/jamaophthalmol.2020.6155
JAMA Ophthalmol. 2021;139(3):347
The article by Steren et al1 provides an excellent review of the accuracy of current applications (apps) for presenting high-contrast (black letters, white background) visual acuity (VA) tests on Apple devices, such as iPhones and iPads. The authors appropriately limited their evaluation to apps that provide free access to potential patients as well as specification of viewing distance to optimize accessibility and ensure appropriate character size. The authors note that a prior evaluation of VA apps in 20152 revealed numerous errors in calibration, such as appropriate letter size for specified viewing distances. Given the plethora of new apps and increasing need for telemedicine during the coronavirus disease 2019 (COVID-19) pandemic, the authors astutely sought to update and refine this analysis applicable to ophthalmology, optometry, and multiple health care sectors. Their results further substantiate the inaccuracy of current VA apps for Apple devices, which likely occur in other devices as well.
Unintended Consequences of Hand Sanitizer Use in the Coronavirus Disease 2019 Pandemic
Kathryn Colby, MD, PhD
doi : 10.1001/jamaophthalmol.2020.6327
JAMA Ophthalmol. 2021;139(3):352
the ongoing coronavirus disease 2019 (COVID-19) pandemic has produced widespread changes to our day-to-day lives in 2020. Many of us have spent the year working or going to school from home. Other interventions have been implemented to keep us and others safe when we do venture from home, including the wearing of face masks. Additionally, widespread availability of alcohol-based hand sanitizer, often in automatic, hands-free dispensers, has become commonplace in public places.
Worsening Floaters in a 68-Year-Old White Woman
Bradley S. Gundlach, MS; Marcel M. Maya, MD; Irena Tsui, MD
doi : 10.1001/jamaophthalmol.2020.4612
JAMA Ophthalmol. 2021;139(3):353-354
An elderly white woman presents with floaters and decreased visual acuity in both eyes as well as trigeminal neuralgia. What would you do next?
A Nonhealing Epithelial Defect in a Patient Experiencing Alcohol Use Disorder
Ariel Chen, MD; Meleha Ahmad, MD; Esen Akpek, MD
doi : 10.1001/jamaophthalmol.2020.4651
JAMA Ophthalmol. 2021;139(3):355-356
A patient presents with ongoing alcohol use disorder and an epithelial defect that grows despite treatment. What would you do next?
Orbital Swelling in a Child With Retinoblastoma Following Intra-arterial Chemotherapy
Erica L. Friedman; Michael T. Froehler, MD, PhD; Anthony B. Daniels, MD, MSc
doi : 10.1001/jamaophthalmol.2020.4675
JAMA Ophthalmol. 2021;139(3):357-358
A 9-month-old girl presented to the emergency department with significant left periocular edema and erythema 3 days after receiving intra-arterial chemotherapy. Computed tomography scan of the orbits demonstrated preseptal and periorbital soft tissue swelling and edema with subtle retrobulbar stranding, without substantial proptosis, along with retinal detachment. What would you do next?
Bilateral Enlargement of All Extraocular Muscles
Victoria Leung, MD, MS; Antonio Maietta, MD; Evan Kalin-Hajdu, MD
doi : 10.1001/jamaophthalmol.2020.4679
JAMA Ophthalmol. 2021;139(3):359-360
A 64-year-old woman presented with 27 mm of bilateral proptosis, conjunctival injection, lower eyelid retraction, and free extraocular movements. An orbital computed tomography scan revealed marked enlargement of every extraocular muscle. What would you do next?
Adapting to Coronavirus Disease 2019 With Point-of-Care Outdoor Intraocular Pressure Monitoring
Miel Sundararajan, MD; Anh Hong Nguyen, MSc; Sarah E. Lopez, OD; et al.
doi : 10.1001/jamaophthalmol.2020.6073
JAMA Ophthalmol. 2021;139(3):361-362
This cohort study describes data from a drive-through clinic designed to measure intraocular pressure while maintaining patient safety during the coronavirus disease 2019 pandemic.
Hand Sanitizer–Induced Ocular InjuryA COVID-19 Hazard in Children
Sonam Yangzes, MS; Sartaj Grewal, MD; Tonyot Gailson, MD; et al.
doi : 10.1001/jamaophthalmol.2020.6351
JAMA Ophthalmol. 2021;139(3):362-364
This case report describes 2 cases of toxic keratopathy in children after unintentional contact between alcohol-based hand rubs and the eye.
Cerebral Cavernous Malformation 2 Syndrome Presenting With Retinal Cavernous Hemangioma and Sixth Cranial Nerve Palsy
Mahmood J. Khan, MD; Marc Dinkin, MD; Donald J. D’Amico, MD
doi : 10.1001/jamaophthalmol.2020.4104
JAMA Ophthalmol. 2021;139(3):e204104
This case report describes a middle-aged woman with left-sided retro-orbital pain and horizontal binocular diplopia after initiating in vitro fertilization, associated with a pathogenic genetic variant.
Papilledema With Intraretinal and Preretinal Hemorrhage
Jasbeth Ledesma-Gil, MD; Alejandro Navas, MD, PhD; Gerardo Ledesma-Gil, MD
doi : 10.1001/jamaophthalmol.2020.5306
JAMA Ophthalmol. 2021;139(3):e205306
This case report describes a middle-aged woman who experienced papilledema with intraretinal and preretinal hemorrhage in both eyes, secondary to a glioblastoma.
Hyperlipofuscinosis With Subretinal Fibrosis and Choroidal Vascular Remodeling in Stargardt Disease
Ian C. Han, MD; Meghan C. Menzel, BA, CRA; Edwin M. Stone, MD, PhD
doi : 10.1001/jamaophthalmol.2020.5438
JAMA Ophthalmol. 2021;139(3):e205438
This case report describes stable ophthalmic abnormalities visible on examination and imaging in a boy with ABCA4-associated Stargardt disease.
Unilateral Pseudoexfoliation Deposits on an Intraocular Lens
Cédric Rochepeau, MD; Batoul El Ameen, MD; Carole Burillon, MD
doi : 10.1001/jamaophthalmol.2020.6856
JAMA Ophthalmol. 2021;139(3):e206856
This case report describes unilateral pseudoexfoliation deposits on the anterior surface of the intraocular lens of an elderly patient.
Long-term Macular Effects of Pentosan Polysulfate Sodium Exposure Uncertain—Let’s Not Jump to Conclusions
James F. Vander, MD
doi : 10.1001/jamaophthalmol.2020.6615
JAMA Ophthalmol. 2021;139(3):364
To the Editor I congratulate Shah and colleagues1 on their important contributions regarding the association between pentosan and maculopathy. I am concerned, however, that the authors have overreached in their conclusions with potentially enormous and likely unintended consequences. The authors’ statement that maculopathy progresses after drug cessation is important. The authors stated that “maculopathy continues to evolve after drug cessation for at least 10 years.”1 Eleven patients are described, and all but 2 stopped drug use at baseline or shortly before. There was only 1 patient with a 10-year gap between cessation and examination. No images are provided for this patient but the text reports that the activity was bilateral cystoid macular edema (CME). This is puzzling since no other patient had this finding and it is not clear that this development is in any way related to prior drug exposure. There are dozens if not hundreds of possible causes for CME and, in some cases, a cause may never be found. Given the patient’s reported response to oral acetazolamide, and in the absence of CME in any other patients, I find it highly speculative to link this development to the use of pentosan 10 years after exposure. Of the patients monitored prospectively after drug cessation, most were monitored for 1 year or less. None developed CME. There were 2 patients who were monitored for more than 3 years, and both were reported to have stable symptoms throughout this follow-up.
Long-term Macular Effects of Pentosan Polysulfate Sodium Exposure Uncertain—Let’s Not Jump to Conclusions—Reply
Rachel Shah, MD; Nieraj Jain, MD
doi : 10.1001/jamaophthalmol.2020.6618
JAMA Ophthalmol. 2021;139(3):364-365
In Reply We thank Vander for his insightful comments on our study of pentosan polysulfate (PPS) maculopathy.1 We agree with the general sentiment, particularly with the statements regarding the seriousness of this public health issue and the importance of being careful in drawing conclusions from the data. As Vander suggested, our report on disease course after drug cessation has clinical and medicolegal ramifications. More importantly, affected patients eagerly await information about long-term visual prognosis, and we wish to provide them with accurate information.
Specifying the Role of Masks in Reducing Viral Material on Environmental Surfaces of an Ophthalmology Examination Room
Arijit Mitra, MBBS, DO, DNB; Ayan Mohanta, MBBS, MS; Debarpita Chaudhury, MBBS, DO, DNB
doi : 10.1001/jamaophthalmol.2020.6565
JAMA Ophthalmol. 2021;139(3):365-366
To the Editor This letter is in reference to the article by Ayto?an et al.1 It was an interesting and relevant article. The objective of the article was to investigate the presence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on the environmental surfaces of an ophthalmology examination room after visits by patients who were asymptomatic and had passed coronavirus disease 2019 (COVID-19) triage. However, the authors did not mention whether the patients, their companions, or the health care workers were wearing masks when the examinations were being performed. The study is expected to have completely different results if the participants were with or without masks and hence this point needs to be clearly mentioned in the study design. The type of masks worn by patients, companions, and health care workers, if known, should also be specified, or if it is not known, then that needs to be stated.
Specifying the Role of Masks in Reducing Viral Material on Environmental Surfaces of an Ophthalmology Examination Room—Reply
Hasan Ayto?an, MD; Emre Ayintap, MD; Nisel ?zkalay Y?lmaz, MD
doi : 10.1001/jamaophthalmol.2020.6568
JAMA Ophthalmol. 2021;139(3):366
In Reply We thank the authors for their letter regarding our article, “Detection of Coronavirus Disease 2019 Viral Material on Environmental Surfaces of an Ophthalmology Examination Room.”1 We are grateful for the opportunity to discuss the topic of masks, which we did not mention in the original article because of the word count limitation of the journal’s instructions. We agree with the authors that whether the patients, companions, and health care workers were wearing masks could alter the outcomes and interpretation of the study. All patients and companions were wearing different kinds of masks, including surgical masks and simple homemade cloth masks. Health care workers were wearing Filtering Facepiece 2 masks during the study. However, there was no standardized particle-filtering mask use in the study. Furthermore, we did not record the mask types. We agree that this was a limitation of the study. We would like to highlight that this study was not interventional but only observational, so standardization of mask use did not occur.
Error in Figure 1 and Additional Information
doi : 10.1001/jamaophthalmol.2020.5934
JAMA Ophthalmol. 2021;139(3):366
the Original Investigation titled “Insights From Survival Analyses During 12 Years of Anti–Vascular Endothelial Growth Factor Therapy for Neovascular Age-Related Macular Degeneration,”1 published online November 19, 2020, was corrected to fix Figure 1A, which had shown the wrong graph, and to fix the Dryad link in the Additional Information section. This article was corrected online.
JAMA Ophthalmology
doi : 10.1001/jamaophthalmol.2020.3749
JAMA Ophthalmol. 2021;139(3):366
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