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Medicine Jan 2021Retinitis pigmentosa is a major cause of visual disability and blindness. Photopsia is usually presented in patients with retinal traction caused by posterior vitreous...
INTRODUCTION
Retinitis pigmentosa is a major cause of visual disability and blindness. Photopsia is usually presented in patients with retinal traction caused by posterior vitreous detachment in clinic, which would occur more commonly in those suffer from moderate or high myopia. We describe a patient with leopard-like retinopathy initially complaining of photopsia caused not by myopia but by retinitis pigmentosa.
PATIENT CONCERNS
A 39-year-old woman with a history of moderate myopia presented to us complaining of photopsia for several days.
DIAGNOSIS
Fundus examination revealed leopard-like retinopathy with normal optic disc and macula appearance in both eyes. The atrophy of retinal pigment epithelium was found in peripheral retina while no bone spicule was present. Retinal multimodal imaging helped in the correct diagnosis of retinitis pigmentosa (sine pigmento), later confirmed by genetic testing.
INTERVENTIONS
At current no specific treatment was applied, but the patient was required for follow-up observation every six months.
OUTCOMES
Follow-up observation.
CONCLUSION
This case highlights the potential for retinitis pigmentosa sine pigmento to present with photopsia under cover of myopia and the importance of performing multimodal imaging including fundus autofluorescence for fundus disorders. Careful history review and multimodal imaging with genetic testing would help for the correct diagnosis of retinitis pigmentosa sine pigmento.
Topics: Adult; Diagnosis, Differential; Female; Humans; Myopia; Retinitis Pigmentosa; Vision Disorders
PubMed: 33545995
DOI: 10.1097/MD.0000000000024006 -
Archivos de La Sociedad Espanola de... Jan 2021A clinical case is presented in order to show the usefulness of multimodal analysis in the diagnosis and monitoring of patients with Acute Zonal Occult Outer Retinopathy...
A clinical case is presented in order to show the usefulness of multimodal analysis in the diagnosis and monitoring of patients with Acute Zonal Occult Outer Retinopathy (AZOOR). A 22 year-old patient was seen in the emergency department complaining of photopsia and paracentral scotoma of the left eye. Several structural and functional tests were performed and the patient was diagnosed with AZOOR. The evolution of the case was towards an initial structural worsening, followed by the almost complete resolution of the lesions identified in the different tests carried out, with an obvious symptomatic improvement. Multimodal analysis of AZOOR cases allows a fairly accurate diagnosis of this condition, and its differentiation from others with a similar appearance, such as multiple white point syndromes, or multifocal choroiditis.
PubMed: 33485739
DOI: 10.1016/j.oftal.2020.10.012 -
Journal of Neuro-ophthalmology : the... Dec 2021A 58-year-old man noticed shadows in the temporal visual field of each eye and photopsias within these scotomas for the past year. Formal visual fields demonstrated...
A 58-year-old man noticed shadows in the temporal visual field of each eye and photopsias within these scotomas for the past year. Formal visual fields demonstrated bitemporal hemianopia. MRI of the sella was normal, but fundus autofluorescence (FAF) demonstrated an area of hyperautofluorescence in the nasal retina of each eye corresponding to the loss of retinal pigment epithelium and photoreceptors. A diagnosis of acute zonal occult outer retinopathy was made based on the presence of trizonal involvement on FAF. This case is a reminder that bitemporal hemianopia can be caused by a retinopathy involving nasal retina in each eye, and FAF is a very useful test when assessing patients with suspected outer retinal disorders.
Topics: Fluorescein Angiography; Fundus Oculi; Hemianopsia; Humans; Male; Middle Aged; Scotoma; Tomography, Optical Coherence; Visual Acuity; White Dot Syndromes
PubMed: 33470740
DOI: 10.1097/WNO.0000000000001167 -
BMJ Case Reports Jan 2021A 49-year-old Asian Indian woman, with a previous history of biopsy proven stage IV primary lung adenocarcinoma with metastasis to liver, bones and central nervous...
A 49-year-old Asian Indian woman, with a previous history of biopsy proven stage IV primary lung adenocarcinoma with metastasis to liver, bones and central nervous system, presented with 1-month history of photopsia in right eye. She was on oral erlotinib since 6 months. Dilated fundus examination of right eye revealed a solitary dome-shaped brownish elevated lesion of approximately 1-disc diameter along the inferotemporal midperiphery with surrounding areas of hypopigmentation. Based on multimodal imaging, a diagnosis of resolved solitary unilateral choroidal metastasis from lung carcinoma in the right eye was made. In view of inactive and regressed choroidal metastasis, no intervention was mandated.
Topics: Adenocarcinoma; Antineoplastic Agents; Base Sequence; Biomarkers, Tumor; Choroid Neoplasms; Erlotinib Hydrochloride; Exons; Female; Genes, erbB-1; Humans; Incidental Findings; Lung Neoplasms; Middle Aged; Sequence Deletion
PubMed: 33462020
DOI: 10.1136/bcr-2020-238131 -
Retinal Cases & Brief Reports Jan 2023To document a peculiar case of optic disk pit-associated maculopathy with extensive nasal retinoschisis with lamellar outer retinal hole.
PURPOSE
To document a peculiar case of optic disk pit-associated maculopathy with extensive nasal retinoschisis with lamellar outer retinal hole.
METHODS
A 41-year-old woman presented to the eye clinic complaining of new photopsias and enlargement of the blind spot in the left eye. Uncorrected visual acuity was 20/20 in both eyes. Fundus examination of the left eye revealed an anomalous appearing optic nerve with a gray oval depression at the temporal margin of the disk consistent with an optic disk pit.
RESULTS
Optical coherence tomography confirmed the presence of the pit and demonstrated outer plexiform layer schisis superonasal to the fovea and extensive inner and outer retinal schisis nasal to the nerve extending to the equator. A large lamellar outer retinal hole was noted nasal to the disk without associated retinal detachment. The vitreous appeared to be attached over the nasal retina.
CONCLUSION
Multimodal imaging revealed an unusual optic disk pit-associated retinopathy with dramatically more extensive retinoschisis and a lamellar outer retinal hole nasal to the nerve despite the temporal location of the pit. Although the precise pathophysiologic mechanisms are not fully understood, forces associated with the vitreo-retinal adhesion may have contributed to the distribution of the schisis in this case.
Topics: Female; Humans; Adult; Optic Disk; Retinoschisis; Retinal Perforations; Retinal Detachment; Eye Abnormalities; Tomography, Optical Coherence; Retinal Diseases
PubMed: 33394960
DOI: 10.1097/ICB.0000000000001110 -
Retinal Cases & Brief Reports Nov 2022To describe the peripheral optical coherence tomography findings in a female choroideremia carrier.
PURPOSE
To describe the peripheral optical coherence tomography findings in a female choroideremia carrier.
METHODS
A 56-year-old woman was referred for visual disturbance complaining of some occasional photopsias and increasing difficulty with her vision at night in both eyes. Best-corrected visual acuity was 20/20 in the right eye and 20/150 in the left eye. Fundus examination revealed mildly tilted disks and peripapillary atrophy with subtle retinal pigment epithelial changes in the periphery.
RESULTS
Macular optical coherence tomography in the right eye appeared unremarkable, but the in the left eye, there was diffuse ellipsoid zone band disruption. Green-light fundus autofluorescence revealed mottled areas of decreased autofluorescence in the mid and far periphery creating an irregular mosaic pattern. Peripheral optical coherence tomography scans revealed more diffuse ellipsoid zone alterations than were apparent on the fundus autofluorescence imaging. Genetic testing revealed a heterozygous pathogenic variant in the CHM gene (c.715C>T, p.Arg239). An additional heterozygous mutation was noted in the CNGB1 gene (c.290+2T>C, splice donor).
CONCLUSION
Choroideremia carriers may manifest widespread photoreceptor alterations, which may be more extensive than apparent on fundus autofluorescence imaging.
Topics: Female; Humans; Middle Aged; Choroideremia; Tomography, Optical Coherence; Fundus Oculi; Heterozygote; Vision Disorders; Retinal Pigments; Fluorescein Angiography; Cyclic Nucleotide-Gated Cation Channels
PubMed: 33394956
DOI: 10.1097/ICB.0000000000001109 -
American Journal of Ophthalmology Case... Mar 2021We report a patient with unilateral symptoms presenting with bilateral multiple evanescent white dot syndrome (MEWDS) in order to highlight the utility of multimodal...
PURPOSE
We report a patient with unilateral symptoms presenting with bilateral multiple evanescent white dot syndrome (MEWDS) in order to highlight the utility of multimodal imaging in revealing asymptomatic lesions in the fellow eye and underscore the importance of looking for silent bilateral disease.
OBSERVATIONS
A 39-year-old man presented with blurry vision and photopsias in the left eye (OS). Funduscopic examination revealed characteristic granular white dots in the posterior pole OS. Multimodal imaging included fundus autofluorescence, which revealed numerous hyperautofluorescent lesions in both eyes, more than appreciated on clinical examination alone and corresponding ellipsoid disruption on OCT. Seven bilateral cases have been previously reported, all of which are asymmetric, similar to the case reported and are summarized here.
CONCLUSIONS AND IMPORTANCE
While MEWDS is most often thought of as a unilateral disease, it may rarely present bilaterally as in the case presented here. Multimodal imaging is especially useful in diagnosis and follow-up. Fundus autofluorescence may be the most sensitive and practical test for detecting MEWDS, revealing lesions in the absence of white dots on clinical exam.
PubMed: 33376834
DOI: 10.1016/j.ajoc.2020.101004 -
Acta Ophthalmologica Sep 2021Effectiveness of ocriplasmin for vitreomacular traction (VMT) varies depending on the presence of common ocular conditions and patient selection criteria. We carried out... (Meta-Analysis)
Meta-Analysis
PURPOSE
Effectiveness of ocriplasmin for vitreomacular traction (VMT) varies depending on the presence of common ocular conditions and patient selection criteria. We carried out a systematic literature review and meta-analysis of ocriplasmin studies conducted in real-world settings (RWS) and compared outcomes with those from randomized controlled trials (RCTs).
METHODS
We included prospective and retrospective studies from RWS documenting effectiveness of ocriplasmin in patients with VMT with or without MH, and RCTs of ocriplasmin versus control. Key end-points were vitreomacular adhesion resolution (VMAR), nonsurgical MH closure, need for vitrectomy and safety. We conducted meta-regression on pooled results to evaluate effects of baseline covariates and study design on outcomes.
RESULTS
Thirty RWS (2402 patients) and 5 RCTs (737 patients) were included epiretinal membrane (ERM) and broad VMA were more prevalent in RCTs. Primary VMAR, vitrectomy and MH closure rates were comparable between RWS and RCTs. Rates of nsVMAR were significantly higher in RWS than RCTs (odds ratio 1.66; 95% confidence interval [CI]: 1.18-2.34). nsVMAR rates were inversely associated with ERM prevalence (odds ratio 0.20; 95% CI: 0.08-0.51). Compared with the recent OASIS trial, RWS reported a higher incidence of new/worsening subretinal fluid cases and less photophobia, photopsia, vitreous floaters, electroretinogram abnormalities and MH progression.
CONCLUSIONS
Ocriplasmin was significantly more effective in achieving nsVMAR in RWS than in RCTs. Lower ERM prevalence in RWS was the single significant explanatory variable for this difference. Conclusions on ocriplasmin safety in RWS are limited due to inconsistent reporting.
Topics: Fibrinolysin; Humans; Intravitreal Injections; Peptide Fragments; Randomized Controlled Trials as Topic; Retinal Diseases; Tomography, Optical Coherence; Visual Acuity
PubMed: 33369248
DOI: 10.1111/aos.14686 -
Cureus Nov 2020Serologic tests for syphilis can be quite complex. The screening and confirmatory tests, which number at least eight, are mathematically interpreted as a total of 16...
Decomplexifying Serum and Cerebrospinal Fluid (CSF) Serologic Testing of Neurosyphilis: A Case Report of Ocular Syphilis and Highlights of the Principles of Serologic Testing.
Serologic tests for syphilis can be quite complex. The screening and confirmatory tests, which number at least eight, are mathematically interpreted as a total of 16 possible combinations, if we choose one test from each of two sets of four. However, this bewildering complexity is simplified if we apply certain principles. We reiterate and propose four axioms. First, we distinguish between treponemal versus non-treponemal tests. The former, the treponemal test, is specific for the spirochete, treponema pallidum, and is used as a confirmatory test. It rarely declines over time. The latter, the non-treponemal test, is a screening test and reflects treponemal or tissue damage, is reported as a titer, and is used to monitor disease activity. We usually need both for screening and confirmatory diagnostic testing. Secondly, for rapid plasma reagin (RPR) tests, a non-treponemal serology test titer of at least 1:8 is suggestive of syphilis, but not necessarily neurosyphilis. A false-negative test usually registers below this dilution level and may be due to the "prozone phenomenon". Serum RPR titers are usually greater than 1:32. Thirdly, a negative treponemal test in the cerebrospinal fluid excludes neurosyphilis and a positive test is highly sensitive but lacks specificity, usually due to blood contamination. Most patients with neurosyphilis will have a positive non-treponemal test in the cerebrospinal fluid (CSF) with elevated protein and pleocytosis. Fourthly, a serological cure is defined as at least a four-fold decline in a non-treponemal test titer at three and six months, or a persistently low titer after treatment. Patients who do not fulfill these criteria are known as "serofast". We describe the case of a 38-year-old man with human immunodeficiency virus-type 1 who developed bilateral optic disc edema with photopsias and transient visual obscurations.
PubMed: 33354477
DOI: 10.7759/cureus.11533 -
European Journal of Ophthalmology Dec 2020Acute zonal occult outer retinopathy (AZOOR) is a rare syndrome characterized by sudden onset of photopsia, scotomas, and abnormal electrophysiological tests,...
Acute zonal occult outer retinopathy (AZOOR) is a rare syndrome characterized by sudden onset of photopsia, scotomas, and abnormal electrophysiological tests, predominantly affecting young women. Although its pathogenesis remains unknown, auto-reactivity to retinal components is thought to mediate tissue damage. A 42-year-old woman presented with symptoms and examination consistent with the diagnosis of AZOOR. She was treated with azathioprine for 5 years. In spite of the immunosuppressive treatment, clear progression in the visual field, autofluorescence, electrophysiological tests and optical coherence tomography was observed. Treatment with intravenous immunoglobulins (IVIg) and subcutaneous Abatacept was subsequently started with little efficacy. Hereby, we present a case of progressive AZOOR despite aggressive immunosuppression with 10-year follow up. Currently, there is no consensus regarding management of AZOOR, and the convenience of administering aggressive immunosuppression remains uncertain.
PubMed: 33349048
DOI: 10.1177/1120672120981874