Malignant rhabdoid tumor of the orbit in an infant.

We present the case of an infant with rapidly progressing orbital tumor that had initial radiological and clinical features of both rhabdomyosarcoma and capillary hemangioma. The patient was eventually diagnosed with malignant rhabdoid tumor of the orbit. We discuss the salient histological and radiological features of our case and review the literature on orbital malignant rhabdoid tumors.

A case of Lemierre's syndrome causing panhypopituitarism, cavernous sinus thrombosis, ischaemic stroke and pulmonary embolism.

Infection is a rare cause of panhypopituitarism and has not been reported in the context of Lemierre's syndrome. We present the case of a previously well 19-year-old man, who presented acutely unwell with meningitis and sepsis. Fusobacterium necrophorum was isolated from peripheral blood cultures and identified on cerebrospinal fluid with 16S rDNA Polymerase Chain Reaction (PCR). Imaging demonstrated internal jugular vein thrombosis with subsequent cavernous venous sinus thrombosis. Pituitary function tests were suggestive of panhypopituitarism. The patient was diagnosed with Lemierre's syndrome complicated by meningitis, cavernous sinus thrombosis, base of skull osteomyelitis, ischaemic stroke and panhypopituitarism. He was treated with 13 weeks of intravenous antibiotics followed by 3 weeks of oral amoxicillin, and anticoagulated with dalteparin then apixaban. His panhypopituitarism was managed with hydrocortisone, levothyroxine and desmopressin.

Emerging Gene Manipulation Strategies for the Treatment of Monogenic Eye Disease.

Genetic eye diseases, representing a wide spectrum of simple and complex conditions, are one of the leading causes of visual loss in children and working adults, and progress in the field has led to changes in disease investigation, diagnosis, and management. The past 15 years have seen the emergence of novel therapies for these previously untreatable conditions to the extent that we now have a licensed therapy for one form of genetic eye disease and many more in clinical trial. This is a systematic review of published and ongoing clinical trials of gene therapies for monogenic eye diseases. Databases of clinical trials and the published literature were searched for interventional studies of gene therapies for eye diseases. Standard methodological procedures were used to assess the relevance of search results. A total of 59 registered clinical trials are referenced, showing the significant level of interest in the potential for translation of these therapies from bench to bedside. The breadth of therapy design is encouraging, providing multiple possible therapeutic mechanisms. Some fundamental questions regarding gene therapy for genetic eye diseases remain, such as optimal dosing, the relative benefits of adeno-associated virus (AAV)-packaging and the potential for a significant inflammatory response to the therapy itself. As a result, despite the promise of the eye as a target, it has proven difficult to deliver clinically effective gene therapies to the eye. Despite setbacks, the licensing of Luxturna (voretigene neparvovec, Novartis) for the treatment of RPE65-mediated Leber congenital amaurosis (LCA) is a major advance in efforts to treat these rare, but devastating, causes of visual loss.

A short-sighted approach to high myopia-not just an eye problem.

We present the first case of rapid onset high myopia in early childhood as the presenting feature of Loeys-Dietz syndrome. The patient progressed from a normal degree of hyperopia (+2 diopter sphere [DS]) at 18 months of age to high myopia (-10 DS) 9 months later. Subsequent genetic testing revealed both her brothers and her father to carry the same TGFB3 pathogenic variant. This case aims to highlight the importance of considering systemic conditions in children with high myopia.

Influence of stereopsis on the ability to perform simulated microsurgery.

PURPOSE: To determine whether impaired or absent stereopsis affects the ability to perform simulated microsurgical tasks. SETTING: University of Edinburgh, United Kingdom. DESIGN: Prospective randomized cross-over study. METHODS: Visual acuity and stereoacuity were measured. A band-pass filter was placed over the nondominant eye to reduce stereoacuity to 150 seconds of an arc (partial stereopsis), or the nondominant eye was completely occluded (absent stereopsis). Participants completed a computerized surgical simulator task 3 times with a randomized testing order (normal stereopsis, absent stereopsis, and partial stereopsis). The task involved using forceps to grasp and position objects in the anterior chamber. Outcomes included area of ocular injury, time to task completion, and overall score. RESULTS: Ocular damage area was significantly worse with partial stereopsis (P = .002) and worse still when stereopsis was absent (P < .001 for normal vs absent stereopsis and P = .005 for partial vs absent stereopsis). The median ocular damage area was 3.55 mm (interquartile range [IQR], 1.21-5.88 mm) with normal stereopsis, increasing to 6.10 mm (IQR, 3.96-12.47 mm) with stereopsis reduced to 150 seconds of an arc and to 9.25 mm (IQR, 4.93-18.70 mm) with no stereopsis. Time taken to complete the task increased and overall score decreased as stereopsis was reduced. The overall score decreased from 53% (IQR, 22.5-82%) under normal stereopsis to 0% (IQR, 0-43.5%) with absent stereopsis. CONCLUSIONS: Impaired stereopsis was associated with worse microsurgical performance, which may have implications for surgical training. The absence of stereopsis resulted in worse performance than partial reduction in stereopsis.

Paediatric glaucoma in Scotland.

BACKGROUND: The primary aim was to estimate the incidence of primary and secondary childhood glaucoma in Scotland over a 2-year period. The secondary aim was to gauge the confidence and experience of ophthalmologists in Scotland in managing these patients. METHODS: A 7 question electronic survey was distributed to all consultant members of the Scottish Paediatric Club and Scottish Glaucoma Club. Respondents were asked to report the number of cases and types of childhood glaucoma they had managed in the last 2 years. Respondents were also asked about experience and confidence in a range of glaucoma procedures, number of patients requiring referral to specialist centres and interest in the development of a centre of excellence in Scotland. RESULTS: The survey returned a 56% response rate, reporting 85 new cases of paediatric glaucoma in Scotland over the preceding 2 years. 11 (12.9%) had primary glaucoma and 74 (87.1%) had secondary glaucoma. The most common subtype of secondary glaucoma was uveitic glaucoma (n = 29). None of the respondents declared confidence or experience in trabeculotomy or goniotomy procedures. Eleven children required referral to a specialist unit outside Scotland. 85.7% of respondents felt Scotland would benefit from a specialist unit for paediatric glaucoma. CONCLUSIONS: This survey reflects an appetite for a specialist service for paediatric glaucoma in Scotland. However, further consideration is needed to determine if there is sufficient patient load to maintain such a service.

Bilateral cataracts as the presenting feature of type 1 diabetes in an 11-year-old girl.

Paediatric cataracts can present a diagnostic dilemma to ophthalmologists. Next-generation DNA sequencing (NGS) has been promoted as a tool to expedite the diagnosis of an underlying cause in such cases.1 The authors present an unusual case of bilateral cataracts in an 11-year-old girl as the first presenting feature of new type 1 diabetes mellitus. Prompt diagnosis and subsequent management of this potentially life-threatening condition were achieved through careful history taking and targeted biochemical testing. The authors feel this case highlights the significance of simple measures such as thorough history taking in the assessment of paediatric cataracts. It is important that these skills are not lost through the availability of clinical tools such as NGS.