Intraocular Biopsy and ImmunoMolecular Pathology for “Unmasking” Intraocular Inflammatory Diseases

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.

Uveitis masquerade syndromes: An approach to diagnosis

“…14 Apart from cytology, additional laboratory techniques such as flow cytometry for clonal B cell populations, interleukin analysis for elevated IL-10:IL-6 ratios, polymerase chain reaction (PCR) for immunoglobulin heavy chain (IGH) gene-rearrangement or mutation of the myeloid differentiation primary response gene (MYD88-L265P) studies and metagenomic deep sequencing may add to diagnostic yield. 27,28 In fact, less invasive methods of diagnosis are currently being explored since the MYD88-L265P mutation, which is present in approximately 70% of PVRL 29 and nearly 70% of PCNSL, 30,31 has recently been shown to be detectable with small volumes from either the aqueous or vitreous humor 28,32 and may be used in the future as a surrogate marker for disease recurrence. 32 Similarly, vitreous sampling obtained via pars plana vitrectomy alone may initially miss the diagnosis of lymphoma as the diagnosis is reliant on cellularity, viability and volume of the specimen.…”

“…The diagnostic yield can be increased by performing subretinal aspirates or biopsy of chorioretinal tissue particularly if the sub-RPE space is primarily involved and if there is not marked vitreous infiltration. 27,34 It is important to remember that concurrent treatment with corticosteroids at the time of vitreous or chorioretinal biopsy may result in a false negative biopsy. A recent consensus statement by 28 uveitis specialists worldwide recommended cessation of local or systemic corticosteroids at least 2 weeks prior to biopsy to allow for an increase in vitreous infiltration and improved diagnostic sensitivity.…”

Pars plana vitrectomy in uveitis in the era of microincision vitreous surgery

“…20G PPV for performing CRB has been the preferred approach for many years with a very few studies on CRB using the MIVS platform. [ 86 87 88 89 90 ] Use of 27G PPV for CRB has been shown to yield positive diagnostic results in about 89% cases if the lesion size was larger than 0.8 mm. [ 87 89 ] Recently, intra-operative optical coherence tomography has shown that it may improve the diagnostic yield of CRB by providing real-time information of biopsy site and depth.…”

Intraocular biopsy in uveitis

“…Reassessment is done after half an hour to ensure reformation of AC and to exclude hyphema. [ 5 ] [ Fig. 1 ].…”