Caroline Thaung

Introduction The prevalence of incidental intraocular malignancy in eye removal cases due to phthisis bulbi remains poorly understood. This retrospective study evaluates the prevalence of unsuspected intraocular malignancies in eye removal specimens. Methods Retrospective study of 1897 evisceration and enucleation specimens submitted for histopathological examination in the UK between 2014 and 2023 submitted to Department of Eye Pathology (DEP), a laboratory within the National Specialist Ophthalmic Pathology Service (NSOPS). Results Among 664 cases meeting inclusion criteria, the incidence of unsuspected malignancy was 0.75% (n = 5). All cases involved evisceration, with malignancies including melanoma, squamous cell carcinoma in situ, and undifferentiated spindle cell tumours, involving one case of malignancy of a corneal button. One case changed to suspected malignancy intraoperatively due to the findings noted during evisceration. Preoperative clinical assessments, including B-scan ultrasonography, failed to detect malignancies in these cases, highlighting the importance of comprehensive preoperative evaluation. Conclusion These findings underscore the need for histological examination in end-stage eyes to identify hidden malignancies and inform treatment decisions. While the overall risk of unsuspected intraocular malignancy remains low, this study reinforces the necessity of considering enucleation when intraocular tumours cannot be reliably excluded preoperatively. This data also emphasises the importance of informed consent and shared decision-making, incorporating the small but material risk of malignancy into pre-operative discussions with patients.

Purpose: To report a case with tumor dissemination after diagnostic choroidal biopsy. Methods: Multimodal imaging and histopathology correlation. Results: A 64-year-old man presented with an atypical uveal mass and underwent a diagnostic transretinal 23-gauge vitrector biopsy to diagnose melanoma. Postoperative course was complicated by prolonged vitreous hemorrhage which required vitrectomy, delaying proton beam treatment by two months. One year after the biopsy, the tumor cells had disseminated to the retina, optic nerve, iris, iridocorneal angle, and extraocularly via the vitrectomy port. The patient died from metastatic melanoma 1 year later. To the best of our knowledge, there are 10 prior cases with biopsy-related tumor seeding in the literature, with risk features including multiple vitreous surgeries, a long interval between biopsy and treatment, and high-risk melanoma cytogenetics. Severe vitreous hemorrhage following biopsy further postpone treatments or warrant vitrectomy, both increasing the risk of tumor spread. Conclusion: Biopsy of choroidal melanoma, especially when complicated by severe vitreous hemorrhage, can lead to dissemination of the malignant tumor.

We report the first case of concurrent iridocorneal endothelial (ICE) syndrome and keratoconus, treated successfully with Descemet’s membrane endothelial keratoplasty (DMEK). A 60-year-old male presented with gradual visual deterioration in his left eye over 4 years. Best corrected visual acuity was 1.1 LogMar, with corneal stromal oedema. Hypertonic saline and systemic acyclovir provided no improvement. Further examination revealed peripheral anterior synechiae and possible ICE syndrome. Combined cataract surgery and adapted DMEK were performed, using right eye data for intraocular lens calculation. Postoperative histopathology confirmed ICE syndrome. Two months postoperatively, vision improved to 0.54 LogMar, with normal intraocular pressure and optical coherence tomography. Ten months later, unaided visual acuity reached 0.4 LogMar, with no significant changes observed in regular follow-ups. The patient remains satisfied with his vision. This case highlights the rare association of keratoconus with Chandler Syndrome and the first report of such a case where DMEK was used as management. The diagnosis of ICE syndrome complicates treatment, however, despite the challenges, DMEK demonstrated promising results for ICE-related corneal oedema in a patient with concurrent keratoconus, offering improved visual acuity and no complications.

Background: Differentiating neoplastic and non-neoplastic uveal tumours can present a diagnostic challenge; intra-ocular biopsy may be necessary. The novel trans-scleral Essen Forceps biopsy (TSEB) technique can improve diagnostic yield compared to fine needle aspiration biopsy (FNAB). We present a case demonstrating the technique and its added value. We also review the success rate of TSEB performed at two tertiary eye centres. Methods: Retrospective case report and consecutive case series from August 2021 to March 2023. Inclusion criteria were patients who underwent TSEB of posterior uveal lesions from Moorfields Eye Hospital and Sheffield Teaching Hospitals in the United Kingdom. The outcomes were biopsy success rate and complication rate Results: Eleven biopsies met the inclusion criteria. Eight (73%) were successful, which comprised six uveal melanomas, one melanocytoma and one extranodal marginal zone (ENMZ) lymphoma. One TSEB did not yield tissue for histological examination because of perioperative sample handling. Two (18%) biopsies were histologically inconclusive; both were treated as uveal melanoma on clinical grounds or repeat biopsy. The only complication was vitreous loss and retinal hole without retinal detachment in one eye with a very posterior, shallow choroidal lesion. Conclusion: TSEB is an effective alternative to established biopsy techniques, yielding larger tissue samples than FNAB with intact tissue architecture. We recommend adding TSEB to the armamentarium of the ocular oncologist.

Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree with eight affected individuals in three generations. Affected individuals had diffuse central stromal opacity, with reduced visual acuity in older family members. Histopathology of affected cornea tissue removed during surgery revealed mild stromal textural alterations with alcianophilic deposits. Whole genome sequence data were generated for four affected individuals. No rare variants (MAF < 0.001) were identified in established corneal dystrophy genes. However, a novel heterozygous missense variant in exon 4 of SPARCL1, NM_004684: c.334G > A; p.(Glu112Lys), which is predicted to be damaging, segregated with disease. SPARC-like protein 1 (SPARCL1) is a secreted matricellular protein involved in cell migration, cell adhesion, tissue repair, and remodelling. Interestingly, SPARCL1 has been shown to regulate decorin. Heterozygous variants in DCN, encoding decorin, cause autosomal dominant congenital stromal corneal dystrophy, suggesting a common pathogenic pathway. Therefore, we performed immunohistochemistry to compare SPARCL1 and decorin localisation in corneal tissue from an affected family member and an unaffected control. Strikingly, the level of decorin was significantly decreased in the corneal stroma of the affected tissue, and SPARCL1 appeared to be retained in the epithelium. In summary, we describe a novel autosomal dominant corneal stromal dystrophy associated with a missense variant in SPARCL1, extending the phenotypic and genetic heterogeneity of inherited corneal disease.

Einleitung: Die Brachytherapie mit Ruthenium-106 (Ru-106) ist eine der am weitesten verbreiteten augenschonenden Behandlungsmethoden des Aderhautmelanoms. Diese Patienten benötigen eine langfristige Überwachung des behandelten Tumorrestes, um sicherzustellen, dass es nicht zu einem lokalen Rezidiv kommt. Neue oder fortschreitende pigmentierte Läsionen in behandelten Augen werden oft als verdächtig angesehen, insbesondere wenn eine extrasklerale Ausbreitung befürchtet wird. Fallvorstellungen: Wir stellen 2 Fälle von posteriorem Aderhautmelanom vor, die 5 bzw. 10 Jahre zuvor mit Ru-106 behandelt worden waren. In beiden Fällen entwickelten sich dunkle/schwarze subkonjunktivale Läsionen auf der vorderen Augenoberfläche im Quadranten der Bindehautperitomie während der Behandlung mit Ru-106. Beide wiesen ähnliche histopathologische Befunde auf: schwarzes, anorganisches, partikuläres Fremdmaterial unterschiedlicher Konfluenz, das sich auf Elastin- und Kollagenfasern ablagerte. Die energiedispersive Röntgenmikroanalyse bestätigte das Vorhandensein von Silber im Material.

Introduction: Ruthenium-106 (Ru-106) brachytherapy is one of the commonest eye-sparing treatments for choroidal melanoma. These patients require long-term surveillance of the treated tumour remnant to ensure there is no local recurrence. New or progressive pigmented lesions in treated eyes are often regarded as suspicious – especially if there are concerns of extra-scleral extension. Case Presentations: We present two cases of posterior choroidal melanoma treated five and 10 years previously with Ru-106. Both cases developed subconjunctival dark/black lesions on the anterior surface of the eye in the quadrant of the conjunctival peritomy during Ru-106 treatment. Both had similar findings on histopathology: black, non-organic, particulate foreign material of varying confluence deposited on elastin and collagen fibres. Energy dispersive X-ray microanalysis confirmed the material contained silver. Discussion: The Ru-106 applicator consists of a radioactive core of Ru-106 encapsulated within pure silver as a radiation shield. During surgical insertion, stainless steel suture needles and forceps can occasionally scratch the applicator’s silver eyelets and scatter microscopic particles of elemental silver into the operative field. These particles were likely deposited within the subconjunctival tissues of these patients during brachytherapy administration, leading to localised ocular argyrosis. Iatrogenic ocular argyrosis should be considered in the differential diagnosis of new pigmented lesions in patients treated with Ru-106 brachytherapy. This study is the first to unequivocally identify the cause of some post-brachytherapy ocular surface pigmentation as caused by silver.