Review

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15 pages, 1297 KiB

Open AccessReview

Highlights on Genetic Polymorphism Associated with Thromboembolic Risk; Implications in Ophthalmic and Autoimmune Disorders—A Review

by Mihaela Oana Romanitan, Matei Popa-Cherecheanu, Victor Andrei Vasile, Simona Stanca, George Iancu, Mihail Zemba, Daniel Branisteanu, Raluca Iancu and Ruxandra Angela Pirvulescu

Diagnostics 2023, 13(7), 1267; https://doi.org/10.3390/diagnostics13071267 - 27 Mar 2023

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Abstract

The present paper explores genetic polymorphism and its association with thromboembolic retinal venous disorders, such as central/hemi-retinal vein occlusion, as well as possible correlations with other ocular findings, such as closed angle glaucoma, but also with autoimmune general disorders. In this review, we [...] Read more.

The present paper explores genetic polymorphism and its association with thromboembolic retinal venous disorders, such as central/hemi-retinal vein occlusion, as well as possible correlations with other ocular findings, such as closed angle glaucoma, but also with autoimmune general disorders. In this review, we are highlighting the importance of establishing a correspondence between all of the above, since they all have complex etiopathogeneses; sometimes, when all coexist together, they could generate effects that may be very difficult to manage. There are studies supporting that genetic polymorphism, such as the variant MTHFR A1298C, may increase the risk for developing glaucoma, especially in the heterozygote model. Being aware of all these aspects may prove to be useful in patients with several associated diseases, as a combined effort between several medical specialties may prove to the benefit of these patients. Our review, completed with an exemplifying clinical case, shows that it is necessary to raise awareness of all aspects of a complex medical situation, including the genetic one, of a patient being at risk for thromboembolic episodes, for preventing them or managing them promptly and properly in the future. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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12 pages, 1074 KiB

Open AccessReview

Pseudopterygium: An Algorithm Approach Based on the Current Evidence

by Facundo Urbinati, Davide Borroni, Marina Rodríguez-Calvo-de-Mora, José-María Sánchez-González, María García-Lorente, Francisco Zamorano-Martín, Rahul Rachwani-Anil, Santiago Ortiz-Pérez, Vito Romano and Carlos Rocha-de-Lossada

Diagnostics 2022, 12(8), 1843; https://doi.org/10.3390/diagnostics12081843 - 30 Jul 2022

Cited by 4 | Viewed by 6662

Abstract

Pseudopterygium is a non-progressive conjunctival adhesion to the peripheral cornea secondary to a corneal-limbus damage. According to the literature, the main etiology is a previous eye trauma. Nevertheless, this could be biased by the existence of other underdiagnosed causes of pseudopterygium, some of [...] Read more.

Pseudopterygium is a non-progressive conjunctival adhesion to the peripheral cornea secondary to a corneal-limbus damage. According to the literature, the main etiology is a previous eye trauma. Nevertheless, this could be biased by the existence of other underdiagnosed causes of pseudopterygium, some of which may have severe consequences for the integrity of the eye and patient’s life. This comprehensive literature review was performed based on a search on the PubMed and Google Scholar databases of relevant pseudopterygium published papers according to our current knowledge and seeks to gather the existing evidence about its diverse etiologies and clinical features, as well as to propose a diagnostic algorithm to simplify its correct approach. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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3 pages, 468 KiB

Open AccessInteresting Images

Lipid Keratopathy: Histopathology, Major Differential Diagnoses and The Importance of Clinical Correlation

by Nora Knez, Molly Walkenhorst and Mohammad Haeri

Diagnostics 2023, 13(9), 1628; https://doi.org/10.3390/diagnostics13091628 - 04 May 2023

Cited by 1 | Viewed by 1644

Abstract

Lipid keratopathy (LK) is a rare ophthalmological condition characterized by a progressive reduction in visual acuity caused by corneal opacification due to central lipid accumulation. LK is characterized by lipid deposits, cholesterol clefts, and neovascularization (NV) leading to disruption in corneal optical quality. [...] Read more.

Lipid keratopathy (LK) is a rare ophthalmological condition characterized by a progressive reduction in visual acuity caused by corneal opacification due to central lipid accumulation. LK is characterized by lipid deposits, cholesterol clefts, and neovascularization (NV) leading to disruption in corneal optical quality. LK classification includes a primary and secondary form which depend on pre-existing corneal or systemic disorders and the evidence of NV. Secondary LK is typically associated with a prior occurrence of herpetic infection, such as herpes zoster keratitis. Patients with LK usually present with progressive vision loss and dense cream-colored corneal opacification. Treatment modalities include conservative and surgical approaches focused on corneal NV elimination. When evaluating corneal lipidosis, it is crucial to consider a range of differential diagnoses, including corneal arcus, Schnyder corneal dystrophy, and other corneal deposit conditions. We report a case of a 62-year-old male with herpes zoster keratitis complicated with LK. He presented with painless progressive vision loss and corneal scarring, which raised suspicion about LK diagnosis. This paper emphasizes the importance of correlating clinical and histological findings for accurate LK diagnosis. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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6 pages, 4208 KiB

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Interpreting Discordant Monosomy 3 FISH and Chromosomal Microarray Analysis Results in Uveal Melanoma

by Christopher P. Long, Nicholas Coley, John Thorson and Jonathan H. Lin

Diagnostics 2023, 13(5), 946; https://doi.org/10.3390/diagnostics13050946 - 02 Mar 2023

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Abstract

Uveal melanoma is the most common primary ocular tumor in adults and causes morbidity through lymphovascular metastasis. The presence of monosomy 3 in uveal melanomas is one of the most important prognostic indicators for metastasis. Two major molecular pathology testing modalities used to [...] Read more.

Uveal melanoma is the most common primary ocular tumor in adults and causes morbidity through lymphovascular metastasis. The presence of monosomy 3 in uveal melanomas is one of the most important prognostic indicators for metastasis. Two major molecular pathology testing modalities used to assess monosomy 3 are fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA). Here, we report two cases of discordant monosomy 3 test results in uveal melanoma enucleation specimens, performed using these molecular pathology tests. The first case is of uveal melanoma from a 51-year-old male that showed no evidence of monosomy 3 when assessed by CMA, but where it was subsequently detected by FISH. The second case is of uveal melanoma from a 49-year-old male that showed monosomy 3 at the limit of detection when assessed by CMA, but where it was not detected by subsequent FISH analysis. These two cases underscore the potential benefits of each testing modality for monosomy 3. Mainly, while CMA may be more sensitive to low levels of monosomy 3, FISH may be best method for small tumors with high levels of adjacent normal ocular tissue. Our cases suggest that both testing methods should be pursued for uveal melanoma, with a single positive result for either test interpreted as indicating the presence of monosomy 3. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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3 pages, 10659 KiB

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Massive Retinal Gliosis Mistaken as a Malignant Intraocular Tumor in Phthisis Bulbi

by Soyoung Im, Hong Sik Park, Uiju Cho and Tae Yoon La

Diagnostics 2022, 12(12), 3090; https://doi.org/10.3390/diagnostics12123090 - 08 Dec 2022

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Abstract

Massive retinal gliosis (MRG) is a rare condition of non-neoplastic glial proliferation, which forms massive lesions that fill the eye. MRG is commonly associated with phthisis bulbi (a non-functional eye), congenital anomalies, or malformations. Herein, we report a case of massive retinal gliosis [...] Read more.

Massive retinal gliosis (MRG) is a rare condition of non-neoplastic glial proliferation, which forms massive lesions that fill the eye. MRG is commonly associated with phthisis bulbi (a non-functional eye), congenital anomalies, or malformations. Herein, we report a case of massive retinal gliosis associated with a traumatic phthisis bulbi, which was initially mistaken as a malignant intraocular tumor and confirmed only after an eye enucleation. A 70-year-old woman presented with a protruding ocular mass in her left eye which had slowly grown for a year. She had phthisis bulbi in her left eye due to trauma during her childhood. An orbital CT revealed an intraocular mass lesion with calcifications, raising the possibility of retinoblastoma or other malignant intraocular tumors. Enucleation of the left eye globe was performed. Histopathologic examination revealed exuberant proliferation of the glial cells, metaplastic bone formation, hyalinized vessels, and hyperplasia of the retinal pigment epithelium, confirming the diagnosis of MRG. Although rare, the possibility of MRG should be considered as a differential diagnosis when encountering an intraocular mass lesion, as it can be misdiagnosed as a malignant tumor. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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6 pages, 1346 KiB

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Acute Orbital Apex Syndrome Caused by Idiopathic Sclerosing Orbital Inflammation

by Chung-Chih Chang, Yung-Ching Chang, Kuei-Ying Su, Yuan-Chieh Lee, Fang-Ling Chang, Ming-Hsun Li, Yen-Chang Chen and Nancy Chen

Diagnostics 2022, 12(12), 3003; https://doi.org/10.3390/diagnostics12123003 - 01 Dec 2022

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Abstract

Idiopathic sclerosing orbital inflammation (ISOI) is a distinct entity among other orbital diseases. It is characterized by marked fibrosis and inflammatory cell infiltration that can damage orbital structures. Clinical manifestations were variable, including ocular and periocular redness, proptosis, and pain. Ocular motor restrictions [...] Read more.

Idiopathic sclerosing orbital inflammation (ISOI) is a distinct entity among other orbital diseases. It is characterized by marked fibrosis and inflammatory cell infiltration that can damage orbital structures. Clinical manifestations were variable, including ocular and periocular redness, proptosis, and pain. Ocular motor restrictions and optic nerve dysfunction might occur in severe cases. We herein report a patient of ISOI who presented with total ophthalmoplegia and acute vision loss. His symptoms were relieved mainly as his vision improved to 20/25 after receiving corticosteroid and immunosuppressant therapies. Therefore, ISOI should be one of the deferential diagnoses when we encounter cases with acute orbital apex syndrome. With prompt evaluation and in-time treatment, a favorable outcome is possible. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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8 pages, 1578 KiB

Open AccessCase Report

A Rare Presentation of Metastatic Renal Cell Carcinoma Masquerading as Vitritis: A Case Report and Review of Literature

by Maria Del Valle Estopinal, Robert T. Swan and Kevin Rosenberg

Diagnostics 2022, 12(7), 1712; https://doi.org/10.3390/diagnostics12071712 - 14 Jul 2022

Cited by 1 | Viewed by 1740

Abstract

We report a case of a 74-year-old gentleman who presented with floaters and decreased vision in the right eye after cataract surgery. His past medical history was significant for metastatic renal cell carcinoma (mRCC) to bone, lung and abdomen which was presumed stable [...] Read more.

We report a case of a 74-year-old gentleman who presented with floaters and decreased vision in the right eye after cataract surgery. His past medical history was significant for metastatic renal cell carcinoma (mRCC) to bone, lung and abdomen which was presumed stable for the last two years while on the tyrosine kinase inhibitor (TKI), pazopanib. Clinical examination revealed significant vitritis with a distinctive clumping of cells on the pre-retinal surface and posterior hyaloid face. Magnetic resonance imaging of the brain revealed new lesions suspicious for metastases. A diagnostic vitrectomy was performed to determine the nature of the vitritis and clear the visual axis. Cytopathologic evaluation of the vitreous demonstrated clusters of malignant cells that were positive for AE1/AE3 and PAX-8, and negative for the CD20, CD3, RCC, SOX-10 and S-100 immunohistochemical markers. The overall findings favored a metastatic RCC to the vitreous. Choroidal and retinal metastases from mRCC have been previously reported; however, vitreous involvement by mRCC with no evidence of retinal or choroidal mass has not been described. New treatments of mRCC include TKIs which target vascular endothelial growth factor receptors (VEGFRs). Herein, we analyze the factors that could have precipitated this unusual metastasis to the vitreous. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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4 pages, 1272 KiB

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Acute Vision Loss as the Initial Manifestation of Granulomatosis with Polyangiitis Involving the Orbital Apex

by Shang-Yen Wu, Ling-Shuo Chang, Yuan-Chieh Lee, Yu-Jen Pan, Yu-Fu Chou, Fang-Ling Chang, Yu-Hsuan Lu and Nancy Chen

Diagnostics 2022, 12(7), 1540; https://doi.org/10.3390/diagnostics12071540 - 24 Jun 2022

Cited by 2 | Viewed by 1286

Abstract

Granulomatosis with polyangiitis (GPA) is a systemic autoimmune disease consisting of necrotizing granulomatosis of the respiratory tract, necrotizing vasculitis, and necrotizing glomerulonephritis. It is under the category of ANCA-associated vasculitis, which involves small vessels. The nose, sinus, and ear were the most affected [...] Read more.

Granulomatosis with polyangiitis (GPA) is a systemic autoimmune disease consisting of necrotizing granulomatosis of the respiratory tract, necrotizing vasculitis, and necrotizing glomerulonephritis. It is under the category of ANCA-associated vasculitis, which involves small vessels. The nose, sinus, and ear were the most affected sites besides lung and kidney in localized form. They might precede other disease manifestations before progressing to the systemic form. Our patient presented with an intractable headache, followed by acute vision loss. His symptoms deteriorated regardless of antibiotic treatment for paranasal sinusitis. The sequential CT/MRI images showed the inflammatory raid of the orbital apex and cavernous sinus within days. The sinus biopsy and elevated PR3-anti-neutrophil cytoplasmic antibody led us to the diagnosis of GPA. Fortunately, the patient’s vision improved gradually after steroid and immunosuppressant treatment. Full article

(This article belongs to the Special Issue Current Diagnostic Concepts of Eye Pathology)

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