Adenoma and adenocarcinoma of the retinal pigment epithelium (RPE) are rare intraocular tumours that are often misdiagnosed as posterior uveal melanoma or other simulating lesions. It is important to be able to differentiate these tumours from melanoma for 3 reasons. First, an inability to rule out melanoma often tilts the management towards enucleation. Second, management options like radiotherapy and local resection which work well for melanoma may not be easily applied to these tumours. Third, and most importantly, patients with melanoma need a lifetime follow-up to rule out metastases (metastatic dormancy) whereas RPE tumours hardly metastasize. An abruptly elevated, often deeply pigmented tumour, with a prominent retinal feeding artery and a draining vein causing exudation, should raise a suspicion of RPE tumours. RPE tumours have a remarkable local invasive potential but a low metastatic potential. Most RPE tumours require treatment due to local complications. Small, asymptomatic tumours can be generally observed. Enucleation is still the gold standard of treatment, although local resection has been reported in selected cases with good results. Here, we provide a comprehensive review of the demographic, clinical, and imaging features of true acquired neoplasms of the RPE, namely adenoma and adenocarcinoma, the ways to differentiate them from melanoma, their clinical course and prognosis, and Options for their management.
A 7-year-old girl presented with defective vision in the left eye (OS) since three years of age. Her right eye (OD) was emmetropic, while OS had refraction of –12.50DS/–3.50 Dcyl @ 150 degrees with best-corrected visual acuity (BCVA) of counting fingers at 1 meter. Slit-lamp examination with diffuse illumination showed early posterior capsular opacity in the visual axis in OS [Figure 1a, yellow arrow] and retro-illumination revealed persistent hyaloid vasculature [Figure 1b, blue arrows]. Fundus examination (pseudocolor fundus picture [Optos 200Tx imaging system, Optos PLC, Dunfermline, Scotland, UK]) of left eye [Figure 2a, red arrow] showed extensive myelinated nerve fibers over the posterior pole with a small fibrous stalk was found to emanate from optic nerve head (ONH), possible distal remnant of hyaloid artery [Figure 2b, white arrows]. Swept Source optical coherence tomography (SSOCT, DRI-OCT1 Atlantis; Topcon, Tokyo, Japan) of the macula showed gross retinal thinning, with posterior staphyloma, and hyperreflectivity of retinal layers due to myelination with loss of retinal architecture [Figure 2c, red arrow] in left eye. SSOCT of the ipsilateral ONH showed elevation with a hyperreflective echo suggestive of hyaloid remnant [Figure 2d, blue arrowhead] and shadowing caused by the vascular stalk [Figure 2e, yellow arrowhead]. The girl was advised patching with correction. At six months follow up, BCVA in left eye improved to 20/60. Informed consent from parents was obtained.Figure 1: Slit lamp (diffuse) photograph (a) of the left eye, showing early central posterior subcapsular opacification (yellow arrow). Retro-illumination (b, blue arrows) shows the entire network of persistent anterior hyaloid vasculatureFigure 2: Pseudocolor fundus picture of the left eye showing extensive myelinated nerve fibres over the posterior pole (a, red arrow) with a small fibrous stalk emanating from the disc (b, white arrows). Corresponding Swept Source optical coherence tomography showed gross retinal thinning at macula (c, red arrow), with posterior staphyloma and hyperreflectivity of inner retinal layers with loss of retinal architecture; and optic disc elevation with an overlying hyperreflective echo suggesting hyaloid remnant (d, blue arrowhead) and shadowing caused by the vascular stalk (e, yellow arrowhead)Discussion Straatsma syndrome consists of ipsilateral extensive myelinated retinal nerve fibers, anisometropic myopia, amblyopia, and strabismus.[1,2,3,4,5] Early diagnosis is important as it makes possible correction of the anisometropia by amblyopia therapy and appropriate strabismus management.[1] Although many ocular associations (including persistent hyaloid vasculature) have been described with this entity,[3,4] this is the first photographic documentation of the persistent hyaloid vasculature with straatsma syndrome in the literature. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Purpose: Vitreoretinal lymphoma (VRL) is the most common intraocular lymphoma (IOL). This can be either primary or secondary to the central nervous system lymphoma. The diagnosis of primary intraocular lymphoma (PIOL) currently relies on clinical diagnosis and cytological analysis of the vitreous or subretinal biopsy. Although most cases are diagnosed without much issue, the limited amount of vitreous fluid, subjectivity in cytological reporting, and special expertise in ocular pathology make the diagnosis challenging. MYD88 L265P mutation has been implicated to have diagnostic utility in PIOL. In this study, we screened consecutive vitreous biopsies for the presence of MYD88 L265P mutation to understand its diagnostic utility compared to conventional cytological analysis. Methods: Cytological analysis and MYD88 L265P mutation by PCR-based sequencing and restriction fragment length polymorphism (RFLP) were carried out on consecutive vitreous and subretinal biopsies collected from 21 patients. The diagnostic utility of the cytology and MYD88 L265P mutation analysis were compared. Results: Out of the 21 patients, 15 had clinical suspicion of having PIOL. Out of these suspected cases of PIOL, nine were confirmed on follow-up, while six were diagnosed as other intraocular pathologies. Diagnostic utility of MYD88 L265P mutation analysis revealed a sensitivity of 88.9%, specificity of 91.6%, positive and negative predictive value of 88.9% and 91.7%, respectively. Diagnostic accuracy of 90.5% was achieved with the mutation analysis that shows the superiority of MYD88 in both ruling in and ruling out PIOL. The diagnostic utility of MYD88 L265P mutation was superior to conventional cytological analysis. Conclusion: The analysis of MYD88 L265P mutation is reliable and efficient in the diagnosis of PIOL.
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