Publications by authors named "Eric D Gaier"

39 Publications

Microvasculopathy in Lyme-Associated Papillitis Revealed by Optical Coherence Tomographic Angiography.

J Neuroophthalmol 2021 Mar 23. Epub 2021 Mar 23.

Department of Ophthalmology (MGT, JBM, EDG), Massachusetts Eye and Ear Infirmary, Boston, Massachusetts; Harvard Medical School (MGT, JBM, EDG), Boston, Massachusetts; Department of Ophthalmology (EDG), Boston Children's Hospital, Boston, Massachusetts; and Department of Brain and Cognitive Sciences (EDG), Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts.

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http://dx.doi.org/10.1097/WNO.0000000000001208DOI Listing
March 2021

Serum Biomarkers in Neuro-Ophthalmology: When to Test.

Semin Ophthalmol 2021 Mar 10:1-7. Epub 2021 Mar 10.

Department of Ophthalmology, Harvard Medical School, Boston.

Discovery and characterization of serologic biomarkers has revolutionized the diagnostic framework of systemic and paraneoplastic autoimmune neuro-ophthalmic diseases. Expanding recognition of the multiple ocular and visual manifestations of these conditions highlights the important role of the referring provider in identifying potential cases. Increasing ease of access to serologic testing also enables these practitioners to initiate the diagnostic work-up in suspected cases. We aimed to provide an update on the current knowledge surrounding and use of relevant autoimmune biomarkers by correlating specific clinical neuro-ophthalmic manifestations with autoantibody biomarkers. The utility of select biomarkers for myasthenia gravis, neuromyelitis optica spectrum disorder, myelin oligodendrocyte glycoprotein-IgG-associated disorder, opsoclonus-myoclonus syndrome, anti-collapsin-response mediator protein-5 optic neuropathy, and glial fibrillary acidic protein-IgG-associated disease are discussed with particular focus on the clinical contexts in which to consider testing.
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http://dx.doi.org/10.1080/08820538.2021.1897856DOI Listing
March 2021

Emerging therapies for amblyopia.

Semin Ophthalmol 2021 Mar 3:1-7. Epub 2021 Mar 3.

Department of Ophthalmology, Boston Children's Hospital, Boston, United States.

Traditional therapies to treat amblyopia, such as optical correction or occlusion/penalization of the non-amblyopic eye, are efficacious but are not without limitations such as poor adherence and decreased success with increasing age. Recently, there has been an interest in new amblyopia therapies, some using binocular techniques, through a variety of platforms including video games, movies, and virtual reality. Overall, available efficacy results for these treatments are highly variable.
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http://dx.doi.org/10.1080/08820538.2021.1893765DOI Listing
March 2021

Pseudo-Duane retraction syndrome after orbital myositis.

J AAPOS 2021 Feb 27. Epub 2021 Feb 27.

Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology, Massachusetts Eye & Ear, Boston, Massachusetts; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts; Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts. Electronic address:

Orbital myositis is a rare, commonly idiopathic, inflammatory condition that affects one or more extraocular muscles. We present a case of unilateral orbital myositis affecting the lateral rectus muscle presenting with gaze-evoked amaurosis, pain, and diplopia, with restrictive limitation of adduction. With improvement in adduction after initiating treatment, we noted narrowing of the palpebral fissure on attempted adduction, mimicking Duane retraction syndrome (DRS). Reported cases of "pseudo-DRS" are associated with multiple etiologies and are characterized by retraction on attempted abduction rather than adduction, as occurs in true DRS. In this case, pseudo-DRS occurred in the setting of idiopathic orbital inflammatory syndrome (orbital myositis) with a motility pattern more consistent with true DRS.
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http://dx.doi.org/10.1016/j.jaapos.2020.11.012DOI Listing
February 2021

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5.

J Neuroophthalmol 2021 Feb 19. Epub 2021 Feb 19.

Department of Ophthalmology (KAAD, VPD, BKC) Massachusetts Eye and Ear Infirmary/Harvard Medical School, Neuro-Ophthalmology Service, Boston, Massachusetts; Department of Ophthalmology (EDG), Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts; Department of Brain and Cognitive Sciences (EDG, BKC), Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts; and Department of Neurology (BKC), Massachusetts General Hospital/Harvard Medical School, Boston Massachusetts.

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http://dx.doi.org/10.1097/WNO.0000000000001187DOI Listing
February 2021

Anterior Ischemic Optic Neuropathy Secondary to Carotid Artery Dissection.

J Neuroophthalmol 2021 Jan 4;Publish Ahead of Print. Epub 2021 Jan 4.

Department of Ophthalmology (IL, JDD, JWG, EDG), Harvard Medical School, Boston, Massachusetts; Department of Ophthalmology (IL, JDD, JWG, EDG), Boston Children's Hospital, Massachusetts Eye and Ear, Boston, Massachusetts; Department of Ophthalmology, Bascom Palmer Eye Institute (JDD), University of Miami Health System, Miami, Florida; Department of Ophthalmology (EDG), Boston Children's Hospital, Boston, Massachusetts; and Department of Brain and Cognitive Sciences (EDG), Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts.

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http://dx.doi.org/10.1097/WNO.0000000000001161DOI Listing
January 2021

Persistent vasa hyaloidea propria/retinae in familial exudative vitreoretinopathy.

J AAPOS 2020 Dec 21. Epub 2020 Dec 21.

Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:

The vasa hyaloidea propria, a component of the fetal hyaloidal vasculature, is characterized by multiple persistent fetal vasculatures branching into the vitreous. We present a 4-month-old girl with stage 4 familial exudative vitreoretinopathy, with multiple ectopic retinal vessels extending into the vitreous, confirmed with fluorescein angiography, which was consistent with persistent vasa hyaloidea propia/retinae making contact with the retina. The patient underwent vitreoretinal surgery to address the retinal detachment, during which the patent stalks of the persistent vasa hyaloidea propia/retinae were transected.
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http://dx.doi.org/10.1016/j.jaapos.2020.11.004DOI Listing
December 2020

Reversal of Visual Loss From Skull Base Osteomyelitis in a Pediatric Patient.

J Neuroophthalmol 2021 Jan 4;Publish Ahead of Print. Epub 2021 Jan 4.

Department of Ophthalmology (KKM, EDG, RG), Massachusetts Eye and Ear, Boston, Massachusetts; Harvard Medical School (KKM, CDR, EDG, RG), Boston, Massachusetts; Division of Neuroradiology (CDR), Department of Radiology, Boston Children's Hospital, Boston, Massachusetts; Department of Ophthalmology (EDG, RG), Boston Children's Hospital, Boston, Massachusetts; and Department of Brain and Cognitive Sciences (EDG), Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts.

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http://dx.doi.org/10.1097/WNO.0000000000001110DOI Listing
January 2021

Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

J Neuroophthalmol 2020 Sep 23. Epub 2020 Sep 23.

Harvard Retinal Imaging Lab (VPD, KAAD, JBM), Boston, Massachusetts; Department of Ophthalmology (VPD, KAAD, JBM, EDG), Harvard Medical School, Boston, Massachusetts; Retina Service (JBM), Massachusetts Eye and Ear, Boston, Massachusetts; Department of Ophthalmology (EDG), Boston Children's Hospital, Boston, Massachusetts; and Department of Brain and Cognitive Sciences (EDG), Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts.

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http://dx.doi.org/10.1097/WNO.0000000000001050DOI Listing
September 2020

Improved adherence and treatment outcomes with an engaging, personalized digital therapeutic in amblyopia.

Sci Rep 2020 05 20;10(1):8328. Epub 2020 May 20.

Luminopia, Inc., Cambridge, MA, 02139, USA.

Given the prevalence of poor adherence to therapy and the biases of self-reporting across healthcare, we hypothesized that an engaging, personalized therapy may improve adherence and treatment outcomes in the home. We tested this hypothesis in the initial indication of amblyopia, a neurodevelopmental disorder for which available treatments are limited by low adherence. We designed a novel digital therapeutic that modifies patient-selected cinematic content in real-time into therapeutic visual input, while objectively monitoring adherence. The therapeutic design integrated a custom-designed headset that delivers precise visual input to each eye, computational algorithms that apply real-time therapeutic modifications to source content, a cloud-based content management system that enables treatment in the home, and a broad library of licensed content. In a proof-of-concept human study on the therapeutic, we found that amblyopic eye vision improved significantly after 12 weeks of treatment, with higher adherence than that of available treatments. These initial results support the utility of personalized therapy in amblyopia and may have broader relevance for improving treatment outcomes in additional indications.
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http://dx.doi.org/10.1038/s41598-020-65234-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239850PMC
May 2020

Virtual Visits in Ophthalmology: Timely Advice for Implementation During the COVID-19 Public Health Crisis.

Telemed J E Health 2020 09 14;26(9):1113-1117. Epub 2020 May 14.

Harvard Medical School, Boston, Massachusetts, USA.

Virtual visits (VVs) are necessitated due to the public health crisis and social distancing mandates due to COVID-19. However, these have been rare in ophthalmology. Over 3.5 years of conducting >350 ophthalmological VVs, our group has gained numerous insights into best practices. This communication shares these experiences with the medical community to support patient care during this difficult time and beyond. We highlight that mastering the technological platform of choice, optimizing lighting, camera positioning, and "eye contact," being thoughtful and creative with the virtual eye examination, and ensuring good documenting and billing will make a successful and efficient VV. Moreover, we think these ideas will stimulate further VV creativity and expertise to be developed in ophthalmology and across medicine. This approach, holds promise for increasing its adoption after the crisis has passed.
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http://dx.doi.org/10.1089/tmj.2020.0121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7640749PMC
September 2020

Novel homozygous mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

Ophthalmic Genet 2019 12 13;40(6):570-573. Epub 2020 Jan 13.

Boston University School of Medicine, Boston, Massachusetts, USA.

: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causing 3-methylglutaconic aciduria type III with optic atrophy.: Retrospective case series.: Three siblings (2 male, 1 female) among 6 children in a consanguineous Afghani family developed decreased vision from early childhood. Both parents and all extended family members were unaffected. All 3 affected siblings suffered from severe visual impairment ranging from visual acuities of 20/150 to counting fingers. All had spastic lower extremity weakness and ataxia. Two of the three affected siblings also had a history of seizures, and the female sibling had limited cognition with diffuse atrophic changes on brain MRI. Two of the three individuals also had migraine-like headaches. Urine organic acid analysis revealed mildly elevated 3-methylglutaconic acid for the male siblings. Whole exome sequencing and subsequent PCR confirmation revealed a novel variant in OPA3 (intron1, c.142 + 2_142 + 3dupTG), affecting the consensus sequence of the splice site, for which all 3 clinically affected siblings were homozygous.: Mutations in OPA3 can cause optic atrophy in a dominant pattern of inheritance associated with cataract or in a recessive pattern associated with spastic paresis and ataxia. The novel recessive mutation and clinical presentations described herein further support how different mutation types affecting OPA3 can produce distinct clinical phenotypes and underscore the critical and susceptible role of mitochondrial health in optic nerve function.
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http://dx.doi.org/10.1080/13816810.2019.1711428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7050282PMC
December 2019

Pediatric Idiopathic Intracranial Hypertension.

Semin Neurol 2019 12 17;39(6):704-710. Epub 2019 Dec 17.

Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.

The presentation of idiopathic intracranial hypertension (IIH) in pediatric populations has several important distinctions from that in adults, especially among prepubertal patients, in which there is no apparent association with gender or obesity. Pediatric patients are more likely to be asymptomatic or present with atypical symptoms than their adult counterparts, posing a diagnostic challenge in some cases. It is important to be aware of the ways in which diagnostic criteria for IIH are modified from that of adults. Ideal treatment practices and the natural history of pediatric IIH remain unclear. Acetazolamide is the mainstay of medical treatment, but some patients with significant visual loss may require surgical intervention. Multicenter studies to accrue a large number of cases and future prospective studies will help to better define pediatric IIH and to formulate consensus guidelines for treatment and management of these patients.
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http://dx.doi.org/10.1055/s-0039-1698743DOI Listing
December 2019

Poor prognoses of open globe injuries with concomitant orbital fractures.

Orbit 2020 Aug 28;39(4):241-250. Epub 2019 Oct 28.

Department of Ophthalmology, University of California , San Francisco, CA, USA.

Purpose: Orbital trauma, particularly with open globe injury, can have a wide range of visual outcomes, which can be difficult to predict at presentation. Clinical features on presentation may provide insight into visual prognosis. We hypothesized that patients with open globe injuries and concomitant orbital fractures have poorer visual outcomes than patients without orbital fractures.

Methods: We reviewed the charts of 77 patients with isolated open globe injuries (OG) and 76 patients with open globe injuries and concomitant orbital fractures (OGOF). Multivariate regression analysis was performed to assess the relative influence of individual presenting historical and clinical features on visual outcome.

Results: OGOF patients were more likely to have sustained blunt trauma than a sharp, penetrating injury compared to OG patients. Ocular wound locations were more posterior and likely to involve multiple zones in OGOF compared to OG patients. Among OGOF patients, orbital floor fractures were the most common and roof fractures were the least common, but the latter was associated with presenting NLP vision and multiple zone involvement. The presence of an orbital fracture independently increased the odds of subsequent evisceration/enucleation (OR: 4.6, 95% CI 1.3-20.1, = .0246) and NLP vision (OR: 6.81, 95% CI 2.42-21.85, = .0005) when controlling for zone, mechanism of injury, uveal prolapse and demographic variables.

Conclusions: The presence of an orbital fracture independently confers a worse visual and ocular prognosis in patients with open globe injuries. Patients with open globe injuries in this category should be appropriately counseled.
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http://dx.doi.org/10.1080/01676830.2019.1663881DOI Listing
August 2020

Imaging Amblyopia: Insights from Optical Coherence Tomography (OCT).

Semin Ophthalmol 2019 3;34(4):303-311. Epub 2019 Jun 3.

a Department of Ophthalmology , Boston Children's Hospital , Boston , MA , USA.

Amblyopia refers to visual impairment resulting from perturbations in visual experience during visual development, typically secondary to strabismus, uncorrected refractive error, and/or deprivation. Amblyopia has traditionally been considered a cortical disease, but the depth of our understanding of this complex neurodevelopmental condition is limited by our ability to appreciate structural pathophysiology in the visual pathway. Recent advances in Optical Coherence Tomography (OCT) have facilitated numerous studies of the structural changes in the retina and optic nerve, thereby expanding our appreciation for the pathogenesis of this condition. In this review, we summarize findings from studies evaluating retinal, retinal nerve fiber layer, and choroidal thickness changes in patients with amblyopia. Focusing on the largest and most recent studies, we discuss common limitations and confounding variables in these studies. We summarize recent advances in ocular imaging technology and reconcile the findings of early histological reports with those of structural OCT in amblyopia.
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http://dx.doi.org/10.1080/08820538.2019.1620810DOI Listing
July 2019

Diagnosis and Imaging of Optic Nerve Head Drusen.

Semin Ophthalmol 2019 3;34(4):256-263. Epub 2019 Jun 3.

a Department of Ophthalmology, Massachusetts Eye and Ear Infirmary , Harvard Medical School , Boston , MA , USA.

The presence of optic nerve swelling in pediatric patients is a frequent cause for referral to pediatric ophthalmologists and neuro-ophthalmologists because this finding can be the harbinger of serious neurologic disease including brain tumor, demyelinating disease, infiltrative disease of the optic nerve, or idiopathic intracranial hypertension. Optic nerve head drusen (ONHD) are common and can be particularly difficult to distinguish from true optic nerve swelling in pediatric patients because the ONHD are typically buried beneath the substance of the optic nerve. Correct identification of ONHD is relevant because of the visual morbidity associated with this condition and because of the need to distinguish pseudopapilledema secondary to ONHD from true optic nerve swelling. A variety of imaging modalities may be employed to evaluate for the presence of ONHD, including ultrasound, optical coherence tomography (OCT), enhanced depth imaging-OCT, fluorescein angiography, fundus autofluorescence, and optical coherence tomography angiography. To date, there is no consensus as to which of these techniques is most accurate and which should be part of a standardized evaluation for children suspected of ONHD. This review examines the recent literature analyzing these diagnostic tools and summarizes data regarding best practices for identifying ONHD.
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http://dx.doi.org/10.1080/08820538.2019.1620804DOI Listing
July 2019

Bilateral uveal effusions in a 23-year-old man.

Digit J Ophthalmol 2018;24(3):13-15. Epub 2018 May 22.

Department of Ophthalmology, Atrius Health, Boston, Massachusetts.

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http://dx.doi.org/10.5693/djo.03.2018.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380252PMC
May 2019

Quantitative analysis of optical coherence tomographic angiography (OCT-A) in patients with non-arteritic anterior ischemic optic neuropathy (NAION) corresponds to visual function.

PLoS One 2018 28;13(6):e0199793. Epub 2018 Jun 28.

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, United States of America.

Purpose: Non-arteritic anterior ischemic optic neuropathy (NAION) is the most common cause of non-glaucomatous optic neuropathy in older adults. Optical coherence tomographic angiography (OCT-A) is an emerging, non-invasive method to study the microvasculature of the posterior pole, including the optic nerve head. The goal of this study was to assess the vascular changes in the optic nerve head and peripapillary area associated with NAION using OCT-A.

Design: Retrospective comparative case series.

Methods: We performed OCT-A in 25 eyes (7 acute and 18 non-acute) in 19 patients with NAION. Fellow, unaffected eyes were analyzed for comparison. Patent macro- and microvascular densities were quantified in the papillary and peripapillary regions of unaffected, acutely affected, and non-acutely affected eyes and compared across these groups according to laminar segment and capillary sampling region, and with respect to performance on automated visual field testing.

Results: In acutely affected eyes, OCT-A revealed a reduction in the signal from the major retinal vessels and dilation of patent superficial capillaries in the peripapillary area. By contrast, non-acutely affected eyes showed attenuation of patent capillaries. The peripapillary choriocapillaris was obscured by edema in acute cases, but was similar between non-acute and unaffected eyes. The degree of dilation of the superficial microvasculature in the acute phase and attenuation in the non-acute phase each correlated inversely with visual field performance. The region of reduced patent capillary density correlated with the location of visual field defects in 80% of acute cases and 80% of non-acute cases.

Conclusions: OCT-A reveals a dynamic shift in the superficial capillary network of the optic nerve head with strong functional correlates in both the acute and non-acute phases of NAION. Further study may validate OCT-A as a useful adjunctive diagnostic tool in the evaluation of ischemic optic neuropathy.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0199793PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023180PMC
December 2018

Pseudohemangioma in Nonarteritic Anterior Ischemic Optic Neuropathy.

Ophthalmology 2018 06;125(6):903

Neuro-ophthalmology Service, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.ophtha.2018.01.029DOI Listing
June 2018

Double Optic Disc Pit With Glial Plugs Imaged by Wide-Field Optical Coherence Tomography.

Ophthalmic Surg Lasers Imaging Retina 2018 01;49(1):52-54

A rare case of a woman in her thirties with double optic disc pits involving opposing sectors is reported. Significantly decreased vision due to macular schisis was noted. Wide-field optical coherence tomography revealed distinct laminar defects and glial tufts associated with each pit. This case illustrates a rare view into the pathogenesis of optic disc pits. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:52-54.].
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http://dx.doi.org/10.3928/23258160-20171215-08DOI Listing
January 2018

Optical coherence tomographic angiography identifies peripapillary microvascular dilation and focal non-perfusion in giant cell arteritis.

Br J Ophthalmol 2018 08 9;102(8):1141-1146. Epub 2017 Nov 9.

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

Aims: We set out to determine the optical coherence tomographic angiography (OCT-A) characteristics of arteritic anterior ischaemic optic neuropathy (AAION) in the context of giant cell arteritis (GCA).

Methods: This is an observational case series of four patients with AAION secondary to GCA, three with unilateral AAION and one with bilateral AAION. We reviewed the charts, fundus photography, visual fields, fluorescein angiography (FA) and OCT-A images for all patients to identify a unifying theme in a range of AAION clinical severity. Imaging of two healthy control eyes from two patients of similar age to the patients in our series were used for comparison.

Results: Superficial peripapillary capillary dilation was seen in eyes with acute AAION. It was also noted in the fellow eyes of two patients. Retinal capillary perfusion defects corresponded to visual field loss. Dense optic disc oedema and cotton-wool spots imparted blockage effects. OCT-A laminar analysis did not highlight the choroidal/choriocapillaris perfusion defects seen on FA in two patients. Follow-up OCT-A was obtained in two patients and revealed progression to superficial peripapillary capillary attenuation that corresponded with visual field loss.

Conclusions: There are acute and chronic vascular changes in AAION that are detectable by OCT-A that correspond with visual function. Though the microvascular changes seen in GCA and AAION are not specific, the nearly ubiquitous findings among preclinical and clinically affected eyes in this series of patients with GCA support OCT-A as a potentially useful adjunctive diagnostic test in the work-up of ambiguous cases of suspected ischaemic optic neuropathy.
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http://dx.doi.org/10.1136/bjophthalmol-2017-310718DOI Listing
August 2018

Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to mutation status.

Mol Vis 2017 10;23:548-560. Epub 2017 Aug 10.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary Boston, MA.

Purpose: Inherited optic neuropathy is genetically heterogeneous, and genetic testing has an important role in risk assessment and counseling. The purpose of this study is to determine the prevalence and spectrum of mutations in a group of patients referred for genetic testing to a tertiary center in the United States. In addition, we compared the clinical features of patients with and without mutations in , the gene most commonly involved in dominantly inherited optic atrophy.

Methods: Clinical data and genetic testing results were reviewed for 74 unrelated, consecutive patients referred with a history of insidious, relatively symmetric, bilateral visual loss secondary to an optic neuropathy. Patients were evaluated for disease-causing variants in , , , and the entire mitochondrial genome with DNA sequencing and copy number variation (CNV) testing.

Results: Pathogenic DNA variants were found in 25 cases, with the majority (24 patients) located in . Demographics, clinical history, and clinical features for the group of patients with mutations in were compared to those without disease-causing variants. Compared to the patients without mutations, cases with mutations in were more likely to have a family history of optic nerve disease (p = 0.027); however, 30.4% of patients without a family history of disease also had mutations in . mutation carriers had less severe mean deviation and pattern standard deviation on automated visual field testing than patients with optic atrophy without mutations in (p<0.005). Other demographic and ocular features were not statistically significantly different between the two groups, including the fraction of patients with central scotomas (42.9% of mutation positive and 66.0% of mutation negative).

Conclusions: Genetic testing identified disease-causing mutations in 34% of referred cases, with the majority of these in Patients with mutations in were more likely to have a family history of disease; however, 30.4% of patients without a family history were also found to have an mutation. This observation, as well as similar frequencies of central scotomas in the groups with and without mutations in , underscores the need for genetic testing to establish an genetic diagnosis.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561143PMC
April 2018

Congenital anomalies of the optic disc: insights from optical coherence tomography imaging.

Curr Opin Ophthalmol 2017 Nov;28(6):579-586

aMassachusetts Eye and Ear Infirmary bDepartment of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

Purpose Of Review: Congenital anomalies of the optic nerve are rare but significant causes of visual dysfunction in children and adults. Accurate diagnosis is dependent on a thorough funduscopic examination, but can be enhanced by imaging information garnered from optical coherence tomography (OCT). We review common congenital optic nerve anomalies, including optic disc pit, optic nerve coloboma, morning glory disc anomaly, and hypoplasia of the optic nerve, review their systemic associations, and discuss insights from OCT imaging.

Recent Findings: Optic disc pits are a result of a defect in the lamina cribrosa and abnormal vitreomacular adhesions have been shown to cause maculopathy. In patients with optic nerve colobomas, OCT can be instrumental in diagnosing choroidal neovascularization, a rare but visually devastating complication. The pathogenesis of morning glory disc anomaly has been more clearly elucidated by OCT as occurring from a secondary postnatal mesenchymal abnormality rather than only the initial neuroectodermal dysgenesis of the terminal optic stalk in isolation. OCT studies of optic nerve hypoplasia have demonstrated significant thinning of the inner and outer retinal layers of the perifoveal region and thicker layers in the fovea itself, resulting in a foveal hypoplasia-like pathology, that is, significantly correlated to poorer visual outcomes.

Summary: OCT provides detailed in-vivo analysis of these anatomic anomalies and their resulting pathologies, shedding new insights on the pathogenesis, diagnosis, and potential visual outcomes of these conditions in children. Further study employing OCT to elucidate structure-function relationships of congenital optic nerve anomalies will help expand the role of OCT in clinical practice related to diagnosis, prognosis, and management of these entities.
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http://dx.doi.org/10.1097/ICU.0000000000000425DOI Listing
November 2017

Retinal Loop Vessel Captured with Optical Coherence Tomography-Angiography.

Ophthalmology 2017 08;124(8):1174

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.ophtha.2017.01.034DOI Listing
August 2017

Focal Capillary Dropout Associated With Optic Disc Drusen Using Optical Coherence Tomographic Angiography.

J Neuroophthalmol 2017 12;37(4):405-410

Neuro-Ophthalmology (EDG, JFR, DMC) and Retina (JBM), Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts.

Optic disc drusen may be a cause of visual field defects and visual loss. The mechanism by which this occurs is unclear. We report a patient who developed decreased vision in the right eye and was found to have a heavy burden of superficial optic disc drusen. Optical coherence tomography (OCT) confirmed focal retinal nerve fiber layer thinning that corresponded with the distribution of drusen. OCT angiography, with superficial laminar segmentation, showed focal capillary attenuation overlying the most prominent drusen. These findings demonstrate alterations in the superficial retinal capillary network associated with optic disc drusen.
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http://dx.doi.org/10.1097/WNO.0000000000000502DOI Listing
December 2017

PV16-Positive Invasive Conjunctival Squamous Cell Carcinoma in an Anophthalmic Socket.

Ophthalmic Plast Reconstr Surg 2017 May/Jun;33(3S Suppl 1):S2-S4

*Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts; †David G. Cogan Laboratory of Ophthalmic Pathology, Boston, Massachusetts; ‡Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts; and §Harvard Medical School, Boston, Massachusetts, U.S.A.

Squamous cell carcinoma arising from conjunctiva in the anophthalmic socket decades following enucleation is rare, but has been previously described. The authors report the first case associated with human papillomavirus (serotype 16) with regional metastases. The patient ultimately underwent orbital exenteration along with parotidectomy and neck dissection which revealed positive lymph nodes. The literature is reviewed relating to this uncommon entity and its management with an analysis of potential contributing risk factors.
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http://dx.doi.org/10.1097/IOP.0000000000000521DOI Listing
September 2017

Combined Central Retinal Vein Occlusion and Central Retinal Arterial Obstruction with Cilioretinal Artery Sparing.

Ophthalmology 2017 04;124(4):576

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.ophtha.2016.10.020DOI Listing
April 2017

The enigma of nonarteritic anterior ischemic optic neuropathy: an update for the comprehensive ophthalmologist.

Curr Opin Ophthalmol 2016 Nov;27(6):498-504

aDepartment of Ophthalmology, Massachusetts Eye and Ear Infirmary bHarvard Medical School cDivision of Ophthalmology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.

Purpose Of Review: Nonarteritic anterior ischemic optic neuropathy (NAION) is the most common cause of acute optic nerve injury, and frequently presents to comprehensive ophthalmologists. We review the typical and atypical clinical features and current literature on various treatment modalities for NAION.

Recent Findings: The epidemiology and clinical presentation of this disease can be variable, making a definitive diagnosis difficult in many cases. In addition, the differential diagnoses for this disorder, although comprising much less prevalent entities, are quite broad and can have substantial systemic implications if these alternatives go unrecognized. NAION has many systemic associations and comorbidities that deserve inquiry when the diagnosis is made. There are currently no widely accepted, evidence-based treatments for NAION. All recommendations made to patients to reduce their risk of sequential eye involvement, including avoidance of potential nocturnal hypotension, erectile dysfunction medication, and treatment of obstructive sleep apnea, have theoretical bases.

Summary: NAION is a common cause of acute vision loss in adult and older patients, and thus, comprehensive ophthalmologists need to be able to diagnose and appropriately manage this disorder. We anticipate fruitful results from current and future trials aimed at neuroprotection in the affected eye and prevention of sequential eye involvement.
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http://dx.doi.org/10.1097/ICU.0000000000000318DOI Listing
November 2016

Peripapillary Capillary Dilation in Leber Hereditary Optic Neuropathy Revealed by Optical Coherence Tomographic Angiography.

JAMA Ophthalmol 2016 11;134(11):1332-1334

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.3593DOI Listing
November 2016