Abstract
Intraocular inflammation can hide a variety of eye pathologies. In 33% of cases, to obtain a correct diagnosis, investigation of the intraocular sample is necessary. The combined analyses of the intraocular biopsy, using immuno-pathology and molecular biology, point to resolve the diagnostic dilemmas in those cases where history, clinical tests, and ophthalmic and systemic examinations are inconclusive. In such situations, the teamwork between the ophthalmologist and the molecular pathologist is critically important to discriminate between autoimmune diseases, infections, and intraocular tumors, including lymphoma and metastases, especially in those clinical settings known as masquerade syndromes. This comprehensive review focuses on the diagnostic use of intraocular biopsy and highlights its potential to enhance research in the field. It describes the different surgical techniques of obtaining the biopsy, risks, and complication rates. The review is organized according to the anatomical site of the sample: I. anterior chamber containing aqueous humor, II. iris and ciliary body, III. vitreous, and IV. choroid and retina. We have excluded the literature concerning biopsy for choroidal melanoma and retinoblastoma, as this is a specialized area more relevant to ocular oncology.
Highlights
The diagnostic approach to intraocular infectious or inflammatory diseases is based on clinical history and examination supported by serologic, microbiologic, and fundamental imaging tests
Kitazawa et al described a new technique for Anterior chamber (AC) paracentesis, using a short 30 G needle combined with a disposable pipette with a squeeze bulb located at its head, which allows the aqueous humor sample to be drawn from the patient using one hand
Since ophthalmic oncology goes beyond the objectives of this article, we will focus on those conditions where iris and ciliary body biopsies can help in the diagnosis of intraocular inflammation of uncertain origin
Summary
The diagnostic approach to intraocular infectious or inflammatory diseases is based on clinical history and examination supported by serologic, microbiologic, and fundamental imaging tests. The tests include ocular echography, fluorescein, and indocyanine green (ICG) angiography as well as more advanced imaging technologies. The combined immunopathological and molecular diagnostics of the intraocular biopsy discriminate between infectious and non-infectious, autoimmune or neoplastic causes by using cutting-edge methods, such as laser capture microdissection (LCM) followed by polymerase chain reaction (PCR), or multiplex PCR, real-time PCR, or metagenomic deep sequencing (MDS). These procedures overcome the diagnostic limits of the traditional cytology, histology, immunohistochemistry, and flow cytometry and are suitable for specimens with few or poorly preserved cells. Since in some clinical pictures the anterior chamber sampling can be diagnostic, the authors decided to describe it in this review for completeness
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