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European Journal of Case Reports in... 2024Most lung cancers are diagnosed at an advanced stage. Common metastatic sites include the brain, bone, liver and adrenal glands. Ocular metastases, however, are...
INTRODUCTION
Most lung cancers are diagnosed at an advanced stage. Common metastatic sites include the brain, bone, liver and adrenal glands. Ocular metastases, however, are extremely rare. We present a case of advanced lung adenocarcinoma presenting exclusively with photopsias attributable to retinal metastases.
CASE DESCRIPTION
We describe a woman in her fifties, a lifetime non-smoker with an unremarkable medical and family history, who presented to the emergency department with photopsias for a week. Ophthalmology evaluation revealed decreased visual acuity bilaterally, and a fundus examination disclosed lesions suggestive of bilateral retinal metastases. A comprehensive evaluation diagnosed a stage IVb lung adenocarcinoma with exon 19 mutation on epidermal growth factor receptor gene. Subsequently, she developed complaints of headaches and dizziness. She received frontline osimertinib 80 mg daily, preceded by upfront whole-brain radiation therapy with partial orbital inclusion for symptomatic ocular and brain metastases. After ten radiation therapy sessions, her complaints were resolved and an ophthalmology revaluation revealed improvement in visual acuity and resolution of photopsia complaints. The patient is currently on osimertinib and preserves an ECOG score of 0.
CONCLUSION
Retinal metastases usually indicate advanced disease, so presenting with isolated ocular symptoms is exceedingly rare. Especially in cases of uncommon metastases, a multidisciplinary approach is fundamental for a prompt diagnosis and timely treatment, impacting prognosis and quality of life.
LEARNING POINTS
Ocular metastases in lung cancer are usually a sign of advanced disease.Advanced lung adenocarcinoma presenting solely with retinal metastases is extremely rare.A multidisciplinary team is essential for the diagnosis and treatment of lung cancer with uncommon metastases.
PubMed: 38223273
DOI: 10.12890/2023_004190 -
Ophthalmic Plastic and Reconstructive...Crizotinib, a targeted molecular therapy drug which inhibits tyrosine kinase, is approved for treatment of non-small cell lung carcinoma which has some ocular side...
Crizotinib, a targeted molecular therapy drug which inhibits tyrosine kinase, is approved for treatment of non-small cell lung carcinoma which has some ocular side effects like photopsia and delayed dark adaptation.This report documents a unique case of persistent conjunctival chemosis likely due to side effects of crizotinib therapy. A 64-year-old gentleman on crizotinib for metastatic adenocarcinoma of the lung presented with conjunctival chemosis in right eye which appeared 1 month after uneventful clear corneal phacoemulsification surgery. The patient was on crizotinib 250 mg twice a day started 2 months before cataract surgery. Clinical examination revealed marked inferior bulbar conjunctival edema of the right eye. Anterior segment optical coherence tomography, slit-lamp photographs, and magnetic resonance imaging orbit and systemic investigation were done to rule out other causes of conjunctival edema. Magnetic resonance imaging shows conjunctival and preseptal edema around both eye and thinning of the optic nerve in the right eye. Anterior segment optical coherence tomography revealed elevated hyper-reflective thickened conjunctival layer with dilated empty thin wall dark spaces of varying caliber. Chemosis was persisted for the next 3 months and not responded to oral acetazolamide, topical steroid and decongestive eyedrops. After 3 months, crizotinib was discontinued by oncologist due to drug intolerance and surprisingly within 1 week, the conjunctival edema was disappeared totally. To the best of the authors' knowledge, this is the first reported case of persistent unilateral non-inflammatory conjunctival chemosis caused by crizotinib. The physicians should be vigilant about these complications.
Topics: Conjunctiva; Conjunctival Diseases; Crizotinib; Edema; Humans; Male; Middle Aged; Tomography, Optical Coherence
PubMed: 32501881
DOI: 10.1097/IOP.0000000000001710 -
Indian Journal of Ophthalmology Jul 2021
Topics: Cataract; Cataract Extraction; Humans; Retinal Diseases; Vision Disorders
PubMed: 34146030
DOI: 10.4103/ijo.IJO_545_21 -
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 -
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 -
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 -
Retinal Cases & Brief Reports 2019To describe the multimodal imaging findings of transient subretinal deposits occurring in multiple evanescent white dot syndrome (MEWDS).
PURPOSE
To describe the multimodal imaging findings of transient subretinal deposits occurring in multiple evanescent white dot syndrome (MEWDS).
METHODS
The multimodal imaging characteristics of transient subretinal deposits occurring in MEWDS were investigated with ultra-widefield color and fundus autofluorescence, cross-sectional and en-face optical coherence tomography (OCT), en face OCT-angiography, and quantitative autofluorescence.
RESULTS
A 28-year-old woman presented with photopsia and temporal visual field loss in her right eye. Her best-corrected visual acuity was 20/20 in her right eye and 20/25 in her left eye. Funduscopic examination showed characteristic peripapillary hyperautofluorescent white dots of MEWDS corresponding to ellipsoid zone disruption on OCT. These lesions became confluent throughout the posterior fundus over the next 4 weeks. As the patient's symptoms were resolving, a second type of transient hyperautofluorescent lesion was noted which corresponded to hyperreflective subretinal deposits on cross-sectional and en face structural OCT. These subretinal deposits were most evident at 10-week follow-up and had nearly resolved at 14-week follow-up. Quantitative autofluorescence showed that, unlike the acute MEWDS lesions, the hyperautoflurescence of the subretinal deposits persisted after photobleaching. At multiple time points over 14 weeks of follow-up, OCT angiography showed no evidence of retinal or choroidal flow abnormalities.
CONCLUSION
Transient subretinal deposits may develop during MEWDS in areas of previous diffuse outer retinal disruption. As these deposits remain hyperautoflurescent on quantitative autofluorescence after photobleaching, they may represent accumulations of debris originating from damaged photoreceptor outer segments.
Topics: Adult; Disease Progression; Female; Fluorescein Angiography; Follow-Up Studies; Fundus Oculi; Humans; Multimodal Imaging; Ophthalmoscopy; Retina; Retinal Diseases; Tomography, Optical Coherence; White Dot Syndromes
PubMed: 28614139
DOI: 10.1097/ICB.0000000000000602 -
European Journal of Ophthalmology Jan 2022The purpose of this study is to report a case of venous-air embolism during a vitrectomy for endoresection of choroidal melanoma.
INTRODUCTION
The purpose of this study is to report a case of venous-air embolism during a vitrectomy for endoresection of choroidal melanoma.
CASE DESCRIPTION
A 31-year-old man went to the clinic because of photopsias and vision loss in his right eye. On fundoscopy of the right eye, a choroidal mass with an associated retinal detachment was found near the inferotemporal vascular arcade. Multimodal imaging was performed and diagnosis of choroidal melanoma was made. Metastatic workup ruled out systemic extension. The patient underwent pars plana vitrectomy for endoresection of the lesion. During the application of laser under air, he started complaining of chest pain and dyspnea. He presented signs of supraventricular tachycardia, tachypnea, hypotension and oxygen desaturation. He was managed with orotracheal intubation, bronchodilators and vasopressor support, and stabilization was achieved. He was discharged 2 days after with no sequalae. After 1-year of follow-up, the patient has a visual acuity of counting fingers and no signs of tumor recurrence or systemic extension.
CONCLUSIONS
Although rare, vitreoretinal surgeons should be aware of this potentially fatal complication and take steps to prevent it.
Topics: Adult; Choroid Neoplasms; Embolism, Air; Humans; Male; Melanoma; Neoplasm Recurrence, Local; Retinal Detachment; Vitrectomy
PubMed: 33626942
DOI: 10.1177/1120672121995101 -
European Journal of Neurology Oct 2020Visual snow manifests as a pan-field, dynamic visual disturbance described as continuous television static-like tiny flickering dots. Current diagnostic criteria further... (Comparative Study)
Comparative Study
BACKGROUND AND PURPOSE
Visual snow manifests as a pan-field, dynamic visual disturbance described as continuous television static-like tiny flickering dots. Current diagnostic criteria further require at least two additional symptoms for visual snow syndrome (VSS) from: palinopsia (afterimages and trailing); entoptic phenomena (floaters, blue field entoptic phenomenon, photopsia, self-light of the eye); photophobia and nyctalopia. Our objective was to compare the phenotype of VSS in an Italian and British population.
METHODS
Patients with VSS were characterized clinically using the current criteria. An online survey was prepared in collaboration with the patient group Eye-on-Vision. Patients were directed to the site if they contacted us by email asking to be involved in research. After data collection, we compared the phenotypic characteristics of a subgroup of British versus Italian patients taking part in the survey. As we expected more responses from the UK, we matched 100 UK patients for gender and age with our Italian cohort.
RESULTS
Patients were enrolled from the UK (n = 100) and Italy (n = 100). The populations had similar demography. After multiple correction testing there were no differences in VSS features between the two groups. The same was true for the prevalence of migraine and previous use of recreational drugs.
CONCLUSION
This is the first study comparing the phenotype of VSS between two distinct populations. Our findings suggest that the visual snow phenotype, as well as migraine comorbidity, is similar across the two groups.
Topics: Comorbidity; Humans; Italy; Migraine Disorders; Prevalence; Vision Disorders
PubMed: 32478974
DOI: 10.1111/ene.14369 -
PloS One 2022Photopsia is a photic phenomenon that can be associated with intraocular lenses after cataract surgery. To calculate the relative light intensity of photic effects...
Photopsia is a photic phenomenon that can be associated with intraocular lenses after cataract surgery. To calculate the relative light intensity of photic effects observed after cataract surgery at the foveal region as the most sensitive region of the retina, photopsia was simulated using the ZEMAX optical design software. The simulations are based on the Liou-Brennan eye model with a pupil diameter of 4.5 mm and incorporating implanted IOLs. The hydrophilic IOLs implanted in the eye model have a power of 21 diopter (D) with an optic diameter of 6 mm and 7 mm. Four different intensity detectors are located in specific regions of the eye in this simulation. The ray-tracing analysis was carried out for variations of incident ray angle of 0° to 90° (temporally) in steps of 1°. Depending on the range of incident ray angle, the light intensity was detected at detectors located on the fovea, nasal side of the retina, or the edge surface of the IOLs. Some portion of the input light was detected at specific incident angles in the foveal region. By altering the IOLs edge design to a fully reflective or anti-reflective surface, the range over which the light intensity is detected on the fovea can be shifted. Additionally, with the absorbing edge design, no intensity was detected at the foveal region for incident ray angles larger than 5°. Therefore an absorbing edge design can make photic effects less disturbing for patients.
Topics: Cataract; Computer Simulation; Humans; Lenses, Intraocular; Light; Optics and Photonics; Prosthesis Design; Vision Disorders
PubMed: 35930598
DOI: 10.1371/journal.pone.0272705