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BMJ Case Reports Oct 2021
Topics: Fluorescein Angiography; Fundus Oculi; Humans; Retinal Diseases; Vision Disorders; White Dot Syndromes
PubMed: 34642221
DOI: 10.1136/bcr-2021-246140 -
Journal of Neuro-ophthalmology : the... Mar 2022Syphilis is an uncommon cause of optic nerve head edema; however, differentiating syphilis from other etiologies of optic nerve head swelling may be challenging. We...
BACKGROUND
Syphilis is an uncommon cause of optic nerve head edema; however, differentiating syphilis from other etiologies of optic nerve head swelling may be challenging. We describe 4 cases of ocular syphilis presenting with swollen optic nerve head(s) without overt signs of intraocular inflammation to better define the phenotypic presentation of this condition to allow its early recognition and treatment and discuss potential pathophysiological mechanisms of syphilitic optic neuropathy.
METHODS
Retrospective case series of patients presenting to a tertiary neuro-ophthalmology practice with a swollen optic nerve head(s) but no overt signs of intraocular inflammation, which was eventually determined to be secondary to syphilis.
RESULTS
Four patients were included in the study. The mean age was 43 years, 2 were women and 2 had bilateral involvement. Two patients had a recent history of skin rash, and one patient was investigated for abdominal pain and elevated liver enzymes. Two patients presented with photopsias and preserved visual function, whereas 2 presented with vision loss. Although chorioretinitis was present in all cases, it was very subtle in all and was only appreciated on fundus autofluorescence (FA) in 3 of 4 cases. Three patients demonstrated evidence of optic perineuritis on neuro-imaging. All patients were treated with a course of intravenous penicillin with a variable degree of visual recovery.
CONCLUSIONS
Systemic symptoms are common in patients with syphilic optic neuropathy. Optic disc edema as a manifestation of syphilis is usually accompanied by subtle chorioretinitis, which is best appreciated on FA. Optic perineuritis is common in patients with syphilitic optic neuropathy, with its pathophysiology likely similar to meningitis seen in neurosyphilis.
Topics: Adult; Chorioretinitis; Female; Humans; Inflammation; Male; Optic Nerve Diseases; Papilledema; Retrospective Studies; Syphilis; Vision Disorders
PubMed: 34629401
DOI: 10.1097/WNO.0000000000001302 -
Retinal Cases & Brief Reports Jul 2023To report a case of nonparaneoplastic autoimmune retinopathy with phenotypical features of pericentral retinal degeneration (PRD) who responded to IV immunoglobulin...
PURPOSE
To report a case of nonparaneoplastic autoimmune retinopathy with phenotypical features of pericentral retinal degeneration (PRD) who responded to IV immunoglobulin therapy.
METHODS
A case report. A 27-year-old man presented with recent subacute progressive nyctalopia and photopsia.
RESULTS
Dilated fundoscopy demonstrated confluent yellow-white patches along the main temporal vascular arcades with sparing of the central island in the posterior pole. Color vision, fundus autofluorescence, fluorescein angiography, static visual field, and electroretinographic studies were inconclusive for retinal degeneration. Subsequent genetic testing for known mutations was negative. Workup for paraneoplastic autoimmune retinopathy was negative. Antiretinal antibodies were positive. The patient was diagnosed with nonparaneoplastic autoimmune retinopathy and was treated with IV immunoglobulin, which resulted in objective and subjective improvement on electroretinography, visual field, and optical coherence tomography of the retina.
CONCLUSION
Nonparaneoplastic autoimmune retinopathy may present in a patient with the clinical phenotype of PRD. It is essential to rule out nonparaneoplastic autoimmune retinopathy in patients with subacute changes in the natural course of pericentral retinal degeneration because treatment with IV immunoglobulin may be helpful.
Topics: Humans; Retinal Diseases; Retinal Degeneration; Autoimmune Diseases; Immunoglobulins, Intravenous; Retina; Electroretinography; Paraneoplastic Syndromes; Phenotype; Tomography, Optical Coherence; Fluorescein Angiography
PubMed: 34618714
DOI: 10.1097/ICB.0000000000001199 -
Retinal Cases & Brief Reports Jul 2023To report a case of ophthalmomyiasis interna with optic nerve invasion that was treated with oral ivermectin and prednisone.
PURPOSE
To report a case of ophthalmomyiasis interna with optic nerve invasion that was treated with oral ivermectin and prednisone.
METHODS
Case report with retrospective review of medical records and multimodal imaging studies.
RESULTS
A Christmas tree farmer in his sixties presented with expanding multicolored, spiraling photopsias in the left eye. The visual acuity measured 20/50, and examination and imaging findings showed subretinal tracks consistent with ophthalmomyiasis interna. After several weeks of spontaneous improvement, the visual acuity decreased to 20/150 and fundus examination showed new optic disc edema that was treated with ivermectin and prednisone. Despite the development of optic disc pallor, the visual acuity improved to 20/25.
CONCLUSION
Subretinal fly larvae can occasionally exit the eye by invading the optic nerve. Treatment of optic nerve involvement with ivermectin and prednisone can result in an excellent visual outcome.
Topics: Humans; Ivermectin; Prednisone; Fundus Oculi; Optic Disk; Myiasis; Optic Nerve
PubMed: 34608017
DOI: 10.1097/ICB.0000000000001194 -
Retinal Cases & Brief Reports May 2023To evaluate a patient with multiple evanescent white dot syndrome with multimodal imaging including high-resolution spectral-domain optical coherence tomography.
PURPOSE
To evaluate a patient with multiple evanescent white dot syndrome with multimodal imaging including high-resolution spectral-domain optical coherence tomography.
METHODS
The patient was evaluated with wide-field color and autofluorescence imaging, microperimetry, and near-infrared imaging. Spectral-domain optical coherence tomography was performed using an instrument capable of 3- μ m axial resolution, the high-resolution Heidelberg Spectralis.
RESULTS
A 28-year-old woman developed photopsias and a scotoma in the field of vision of her left eye. She had multiple whitish spots with granularity in her fovea, consistent with the diagnosis of multiple evanescent white dot syndrome. She had supportive fluorescein angiographic and autofluorescence findings. Because of the high resolution and good layer contrast, it was possible to create en face slab images of the external limiting membrane, ellipsoid zone, interdigitation zone, and retinal pigment epithelium. The external limiting membrane showed no abnormalities. There were multiple regions of decreased reflectance in the ellipsoid zone slab but even more prominent changes in the interdigitation zone. The retinal pigment epithelium showed nearly no variation in layer reflectivity. With resolution of symptoms, the color and autofluorescence images returned to normal, the defects in the ellipsoid zone almost completely resolved, and the interdigitation zone continued to show abnormalities.
CONCLUSION
Although past studies concluded that the ellipsoid zone was the main region of involvement in multiple evanescent white dot syndrome, high-resolution spectral-domain optical coherence tomography suggests the interdigitation zone was more prominently affected in this case.
Topics: Female; Humans; Adult; Tomography, Optical Coherence; Retina; Retinal Diseases; White Dot Syndromes; Fovea Centralis; Fluorescein Angiography
PubMed: 34580246
DOI: 10.1097/ICB.0000000000001192 -
Retinal Cases & Brief Reports Jul 2023To describe a case of nonsyndromic retinitis pigmentosa caused by presumed compound heterozygous A615T and T522M mutations in HGSNAT, characterized by bilateral cystoid...
PURPOSE
To describe a case of nonsyndromic retinitis pigmentosa caused by presumed compound heterozygous A615T and T522M mutations in HGSNAT, characterized by bilateral cystoid macular edema and retinal neovascularization.
METHODS
Case report. The patient underwent clinical evaluation, multimodal imaging, and next-generation panel sequencing. In silico analysis was performed with PolyPhen-2, SIFT, and MutationTaster. Segregation analysis was not available.
RESULTS
A 35-year-old hypertensive man presented with nyctalopia, photopsia, and difficulty reading for six months. He had no family history of visual deficits. The best-corrected visual acuity was 20/25 in the right eye and 20/20 in the left eye. Examination revealed midperipheral bone spicules and macular neovascularization in both eyes. Multimodal imaging demonstrated cystoid macular edema, ellipsoid band loss outside the central macula, and leakage from the neovascularization in both eyes. Sequencing detected four mutations in three genes, including two heterozygous mutations in HGSNAT (c.1843G>A, p.A615T and c.1565C>T, p.T522M). A615T is a pathogenic, hypomorphic mutation. T522M has not been previously phenotypically described. It is predicted damaging by in silico analysis and occurs at a conserved position near the eighth transmembrane domain, adjacent to residues in which missense mutations result in protein misfolding.
CONCLUSION
This is, to the best of our knowledge, the first reported case of retinal neovascularization in a case of nonsyndromic retinitis pigmentosa due to HGSNAT mutation. The T522M variant likely functions as a severe mutation alongside the hypomorphic A615T mutation. These findings expand the genotypic and phenotypic spectrum of nonsyndromic retinitis pigmentosa.
Topics: Male; Humans; Adult; Macular Edema; Retinal Neovascularization; Retinitis Pigmentosa; Mutation; Retinal Diseases; Acetyltransferases
PubMed: 34580245
DOI: 10.1097/ICB.0000000000001193 -
Cureus Aug 2021Ocular syphilis can occur at any time after initial infection and most commonly presents as posterior uveitis or panuveitis, although many other ocular findings have...
Ocular syphilis can occur at any time after initial infection and most commonly presents as posterior uveitis or panuveitis, although many other ocular findings have been documented. We present the case of a young, otherwise healthy Caucasian HIV-negative male who presented with acute onset of photopsias, floaters, and a rapidly progressive unilateral scotoma who was originally diagnosed with acute zonal occult outer retinopathy (AZOOR) and started on a high dose prednisone taper. Although his clinical symptoms improved on corticosteroids, he was later switched to Penicillin G treatment when his blood and cerebrospinal fluid (CSF) testing demonstrated syphilis as his underlying diagnosis. Given his ocular findings on the exam and reactive syphilitic testing, he was ultimately diagnosed with acute syphilitic posterior placoid chorioretinitis (ASPPC). Our patient's clinical improvement after a high-dose prednisone trial offers further evidence of an autoimmune component to the pathophysiology of ASPPC.
PubMed: 34540495
DOI: 10.7759/cureus.17274 -
JNMA; Journal of the Nepal Medical... Feb 2021Idiopathic Intracranial Hypertension is a rare occurrence in young, physically fit male and a diagnosis of exclusion among most patients presenting with signs and...
Idiopathic Intracranial Hypertension is a rare occurrence in young, physically fit male and a diagnosis of exclusion among most patients presenting with signs and symptoms of raised intracranial pressure. Here we describe a case of a young male in the ideal weight range with no previous exposure to offending chemicals presented with a history of headache, obscuration of vision, and photopsia. On examination, there were no positive neurological findings. Increased opening pressure was found on the lumbar puncture. Ophthalmological examination revealed bilateral papilledema. Humphrey’s Visual field test showed peripheral field loss. Magnetic resonance imaging scan of the brain and orbits were normal. The patient was diagnosed and managed in primary care setting after neurosurgical consultation. Though rare, we should suspect idiopathic intracranial hypertension in ideal body weighted male if the headache is persistent after other causes of headache have been ruled out.
Topics: Headache; Humans; Intracranial Hypertension; Male; Papilledema; Pseudotumor Cerebri; Vision Disorders
PubMed: 34506475
DOI: 10.31729/jnma.5176 -
Survey of Ophthalmology 2022Ocriplasmin is used to treat vitreomacular traction (VMT), with or without full-thickness macular hole (MH). We systematically reviewed the evidence on ocriplasmin's... (Meta-Analysis)
Meta-Analysis Review
Ocriplasmin for treatment of vitreomacular traction and macular hole: A systematic literature review and individual participant data meta-analysis of randomized, controlled, double-masked trials.
Ocriplasmin is used to treat vitreomacular traction (VMT), with or without full-thickness macular hole (MH). We systematically reviewed the evidence on ocriplasmin's effect on vitreomacular adhesion resolution (VMAR), MH closure, vitrectomy, and best-corrected visual acuity (BCVA) and investigated the effect of baseline covariates on outcome. We applied individual participant data meta-analyses to the entire population and to subgroups defined by MH or epiretinal membrane (ERM) presence. Safety data were pooled and tabulated. Five randomized controlled trials (1,067 participants) were included. Six months after treatment, ocriplasmin achieved higher rates of VMAR and MH closure versus control, lowered vitrectomy odds, and increased the likelihood of a ≥10-letter BCVA increase. VMAR rates were lower when ERM, broad VMA (> 1500 µm), diabetic retinopathy, or pseudophakia were present and higher in younger participants, women, and eyes with MHs. Ocriplasmin-treated participants experienced more short-term visual impairment that was not predictive of final BCVA, as well as vitreous floaters, photopsia, photophobia, eye pain, blurred vision, and dyschromatopsia. The most common serious adverse events for ocriplasmin and control, respectively, were MH progression (22.5%, 17.3%), new MH (1.5%, 3.4%) and retinal detachment (0.8%, 1.2%). Ocriplasmin promotes VMAR and MH closure. Transient visual phenomena are not uncommon.
Topics: Female; Fibrinolysin; Humans; Intravitreal Injections; Peptide Fragments; Retinal Diseases; Retinal Perforations; Tomography, Optical Coherence; Traction; Treatment Outcome; Vision Disorders; Visual Acuity; Vitreous Body; Vitreous Detachment
PubMed: 34480895
DOI: 10.1016/j.survophthal.2021.08.003 -
Archivos de La Sociedad Espanola de... Sep 2021A presentation is made of two cases of acute zonal occult outer retinopathy (AZOOR); one a young man of 19 years, and the other a 42-year-old woman. The young man...
A presentation is made of two cases of acute zonal occult outer retinopathy (AZOOR); one a young man of 19 years, and the other a 42-year-old woman. The young man complained of unilateral scotoma and photopsia. The woman presented with bilateral visual loss and photopsia. Multimodal imaging, including fundus photography, fluorescein angiography, fundus autofluorescence, spectral-domain optical coherence tomography, and visual field testing, supported the diagnosis of AZOOR. The differential diagnosis is complicated, since it has clinical features in common with other retinopathies. This means that it is essential to use modern imaging tests, especially those where the characteristic trizonal pattern is shown, such as in autofluorescence and OCT.
Topics: Adult; Female; Fluorescein Angiography; Humans; Male; Scotoma; Visual Acuity; White Dot Syndromes; Young Adult
PubMed: 34479708
DOI: 10.1016/j.oftale.2020.07.010