Drusen and Other Retinal Findings in People With IgA Glomerulonephritis.

PURPOSE: Retinal drusen have been described in people with IgA nephropathy. We examined the frequency of drusen in IgA nephropathy and compared their location and composition with those for drusen in age-related macular degeneration. DESIGN: Immunohistological case series of eyes of patients with IgA nephropathy, and a comparison eye with age-related macular degeneration. METHODS: Donor eyes from 4 individuals (3 male, 1 female, aged 40-80 years) with biopsy-proven IgA nephropathy and kidney failure were examined for the presence of drusen, and location and composition using antibodies for vitronectin, IgA, IgM, IgG, C3, and C1q. Results were compared with those for drusen in macular degeneration without IgA nephropathy. RESULTS: All 4 donors had sparse, subretinal pigment epithelium drusen of 55-65 mm diameter that stained for vitronectin but not for IgA or complement. All donors had retinal capillaries and choriocapillaris staining for IgA. The youngest donor (female, 40) had rare deposits in the outer nuclear layer that stained for IgA, but not for vitronectin. The oldest donor (male, 82) had large cystlike spaces in the inner nuclear and plexiform layers, and smaller cysts in the outer nuclear layer, with no staining for IgA or complement. CONCLUSIONS: Retinal drusen are uncommon in IgA nephropathy, even with kidney failure. Drusen in IgA nephropathy resemble drusen found in age-related macular degeneration. IgA-staining deposits in the outer nuclear layer were likely due to systemic deposition of IgA and complement activation. The nature of cystic spaces is unknown. Further analysis of the retinas of people with glomerulonephritis is recommended.

KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.

INTRODUCTION: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defect, prominent ears, and rudimentary breasts. We describe here further clinical associations in the eye and kidney. METHODS: Fifteen affected members from two unrelated families with p.(Ala30Glu) or p.(Pro31Leu) in KCTD1 were examined for ocular and renal abnormalities. The relevant proteins were studied in the eye and kidney, and the mutation consequences determined from mouse knockout models. RESULTS: Five males and 10 females with a median age of 40 years (range 1-70) with pathogenic variants p.(Ala30Glu) (n = 12) or p.(Pro31Leu) (n = 3) in KCTD1 were studied. Of the 6 who underwent detailed ophthalmic examination, 5 (83%) had low myopic astigmatism, the mean spherical equivalent of 10 eyes was 2.38D, and one (17%) had hypermetropic astigmatism. One female had a divergent strabismus.Five individuals had renal cysts (5/15, 33%), with renal biopsy in one demonstrating a thinned glomerular basement membrane identical to that seen in Thin basement membrane nephropathy (AD Alport syndrome).In the eye, KCTD1 and its downstream targets, TFAP2, and the collagen IV α3 and α4 chains localised to the cornea and near the retinal amacrine cells. In the kidney, all these proteins except TFAP2 were expressed in the podocytes and distal tubules. TFAP2B and COL4A4 knockout mice also had kidney cysts, and COL4A3 and COL4A4 knockout mice had myopia. CONCLUSION: Individuals with a pathogenic KCTD1 variant may have low myopic astigmatism and represent a further rare genetic cause for a thinned glomerular basement membrane.

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Hypomagnesemia and hypocalciuria are typical of GS, while juxtaglomerular hyperplasia is characteristic of BS. GS is due to SLC12A3 variants, whereas BS is due to variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND, MAGED2, or CASR. We had the opportunity to follow up one of the first reported cases of a salt-wasting tubulopathy, who based on clinical features was diagnosed with GS. The patient had presented at age 10 years with tetany precipitated by vomiting or diarrhea. She had hypokalemia, a hypochloremic metabolic alkalosis, hyponatremia, mild hypercalcemia, and normomagnesemia, and subsequently developed hypocalciuria and hypomagnesemia. A renal biopsy showed no evidence for juxtaglomerular hyperplasia. She developed chronic kidney failure at age 55 years, and ocular sclerochoroidal calcification, associated with BS and GS, at older than 65 years. Our aim was therefore to establish the genetic diagnosis in this patient using whole-genome sequencing (WGS). Leukocyte DNA was used for WGS analysis, and this revealed a homozygous c.226C > T (p.Arg76Ter) nonsense CLCNKB mutation, thereby establishing a diagnosis of BS type-3. WGS also identified 2 greater than 5-Mb regions of homozygosity that suggested likely mutational heterozygosity in her parents, who originated from a Greek island with fewer than 1500 inhabitants and may therefore have shared a common ancestor. Our results demonstrate the utility of WGS in establishing the correct diagnosis in renal tubular disorders with overlapping phenotypes.

Online Faculty Development on Curriculum Design in Simulation-based Education by International Collaboration - An Example from the Democratic Republic of the Congo.

PURPOSE: Faculty development for procedural specialists is intended to improve clinical education and surgical/procedural skills. Despite challenging in under-resourced settings, this may be enhanced by developing international collaboration agreements and supported by online learning experiences. The Congolese Society of Ophthalmology and the International Council of Ophthalmology agreed to collaborate on implementing an online educational program to form a community of practice (CoP) of ophthalmologists educators and enhance competence in curriculum design and simulation-based education (SBE) on cataract surgery. METHODS: Ten Congolese ophthalmologists, faculty for the "Centre de Formation Ophthalmologique pour l'Afrique Centrale" (CFOACF), participated in a group-mentored 12-webinar modular program on curriculum design, in 2019. Considering the geo-social-cultural learning environment, we developed a curriculum framework incorporating social constructivism and experiential learning principles to facilitate the implementation of learning. Educational strategies included flipped, practice-based and social learning, group mentoring, and individual and collective reflection opportunities. A CoP was virtually nurtured using WhatsApp. Program evaluation relied on (a) feedback survey per module and 3 months upon conclusion, (b) individual declarative knowledge assessment, and (c) group assignment to test competence improvement. RESULTS: The CFOACF formed a virtual CoP, commented on an enjoyable opportunity to develop scholar teaching competence, expressed intention in systematically building educational curricula design that includes active learning strategies and effective feedback and showed individual learning and team-competence improvement. CONCLUSION: This first iteration of our online faculty development program nurtured the formation of a CoP of ophthalmologists' educators and enabled to practice a scholar teaching approach, especially applied to SBE.

Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.

INTRODUCTION: Voretigene neparvovec-rzyl (Luxturna) was approved by the Australian Therapeutic Goods Administration on 4 August 2020 for the treatment of biallelic mutations in the RPE65 gene, a rare cause of congenital and adult-onset retinal dystrophy (predominantly Leber congenital amaurosis). Previous studies have shown that individuals who might participate in gene therapy trials overestimate clinical effect and underestimate risks. However, little is known about the perspectives of patients who may be offered approved gene therapy treatment for ocular conditions (as distinct from participating in clinical trials of gene therapy). The main objective of this study is to develop a tool to assess knowledge, attitudes and perceptions of approved and future genetic therapies among potential recipients of ocular gene therapy. In addition, we aim to assess the quality of life, attitudes towards clinical trials and vision-related quality of life among this cohort. METHODS AND ANALYSIS: A new 'Attitudes to Gene Therapy for the Eye' tool will be developed following consultation with people with inherited retinal disease (IRD) and content matter experts. Australians with IRD or their guardians will be asked to complete an internet-based survey comprising existing quality of life and visual function instruments and items for the newly proposed tool. We expect to recruit 500 survey participants from patient support groups, the practices of Australian ophthalmologists who are specialists in IRD and Australian ophthalmic research institutions. Launch is anticipated early 2021. Responses will be analysed using item response theory methodology. ETHICS AND DISSEMINATION: This study has received ethics approval from the University of Melbourne (#2057534). The results of the study will be published in a peer-reviewed journal and will be presented at relevant conferences. Organisations involved in recruitment, and the Patient Engagement Advisory committee will assist the research team with dissemination of the study outcomes.

Online Faculty Development: An African Lusophone Ophthalmic Society Experience During the COVID-19 Pandemic.

PURPOSE: Faculty development for procedural specialists aims at developing both their medical education and surgical competence. This has been challenging during the COVID-19 pandemic, especially in under-resourced settings and African Lusophone ophthalmology community has been no exception. The Mozambican College of Ophthalmology (MOC) and the Continuing Professional Development Committee of the International Council of Ophthalmology (ICO) established a collaboration to enhance simulation-based clinical teaching competence in cataract surgery. METHODS: Ten Mozambican ophthalmologists experienced in teaching cataract surgery participated in a group mentoring assisted 6 month/11 flipped-learning online experience on curriculum design, which included practice-based and social learning strategies, continuous bidirectional feedback, individual and group reflection opportunities, and the demonstration of declarative and procedural competencies. Program evaluation consisted of pre and post-test knowledge assessment; individual homework, informed by curated reading and a recorded lesson; feedback surveys for each module and one month after the program's conclusion, and a longitudinal project on creating a simulation-based education session on one step of cataract surgery. RESULTS: Participants a) highlighted the opportunity to advance their scholarly teaching skills as facilitators; b) showed an increase in knowledge post-test, expressed commitment to improve their learning experiences´ design, include interactive educational methods, and provide constructive feedback; and c) formed a sustained community of practice of ophthalmologists educators (CoP). CONCLUSION: This online faculty development program, assisted by group mentoring, held during the COVID-19 pandemic, facilitated the development of a CoP and was effective in enhancing teaching competence in curriculum design to apply in simulation-based learning environments.

Ocular complications of tumour necrosis factor alpha inhibitors.

Tumour necrosis factor alpha inhibitors are a relatively recent development and are becoming increasingly common in the management of many chronic inflammatory conditions such as rheumatoid arthritis, inflammatory bowel disease, ankylosing spondylitis and juvenile idiopathic arthritis. However, their ocular side effect profile is incomplete and poorly recognised, with mostly anecdotal cases reported in the literature. In this report we review the literature regarding ocular side effects associated with tumour necrosis factor alpha blockade.

How to Add Metacognition to Your Continuing Professional Development: Scoping Review and Recommendations.

Participation in continuing professional development (CPD) is part of lifelong learning required by ophthalmologists. Metacognition is a new area of educational research. It is important because metacognitive skills are essential in medical education and likely to improve effectiveness of CPD activities. We systematically searched PubMed using the terms "metacognition" and "CPD" or "continuing medical education (CME)" and found only 5 articles. These articles were supplemented by a broadbased review of published literature including educational psychology, across the continuum of medical education. We summarize the techniques that may improve metacognition in CPD: awareness of and instruction in metacognition, awareness and mitigation of cognitive errors, appropriate needs analysis, and choosing appropriate activities. Metacognition and learning of new surgical techniques, the role of portfolios, and the role of the educator are described. The evidence is weak however, and it is usually extrapolated to CPD activities from other fields. Ophthalmologists may be able to improve their metacognitive skills in the CPD context, but the evidence supporting this is of low quality.

Partnering to develop a continuing professional development program in a low-resource setting: Cambodia.

OBJECTIVE: To design and implement a continuing professional development (CPD) program for Cambodian ophthalmologists. DESIGN: Partnering (twinning) between the Royal Australian and New Zealand College of Ophthalmologists (RANZCO) and the Cambodian Ophthalmological Society (COS). PARTICIPANTS: Practicing ophthalmologists in Cambodia. METHODS: A conjoint committee comprising 4 ophthalmologists from RANZCO and 3 ophthalmologists from COS was established, supported by a RANZCO administrative team experienced in CPD administration. CPD requirements and recording were adapted from the RANZCO CPD framework. Cambodian ophthalmologists were surveyed during program implementation and after handover to COS. RESULTS: At the end of the 3-year program at handover to COS, a CPD program and online recording system was established. All 47 (100%) practicing ophthalmologists in Cambodia were registered for CPD, and 21/47 (45%) were actively participating in the COS CPD program online recording. Surveys of attitudes toward CPD demonstrated no significant change. CONCLUSIONS: Partnering was moderately effective in establishing a CPD program for Cambodian ophthalmologists. Uptake of CPD may have been limited by lack of a requirement for CPD for continuing medical licensure in Cambodia. Follow-up will be necessary to demonstrate CPD program longevity.

Developing educators for continuing professional development.

Continuing professional development (CPD) is part of the medical education continuum, has been shown to produce improved physician practice and good patient outcomes, and is increasingly required for revalidation of medical licensure. CPD can be considered a discipline in its own right but is the least formally organized stage in medical education. CPD educators play a central role, but there has been remarkably little published work specifically describing CPD educators. This narrative review, using ophthalmology as exemplar medical specialty, describes trends affecting CPD educators and their sources, attributes, and development needs, mainly extrapolated from information regarding other medical educators in the medical education continuum spectrum. Future research needs are discussed.

Bilateral retrobulbar optic neuropathy in the setting of interferon alpha-2a therapy.

The development of biopharmaceutical agents, including the interferons (IFN), offers new treatment options for a wide range of medical conditions. Such advancements, however, have not come without risk to patients. Optic neuropathy in the setting of IFN therapy has been previously documented and is usually attributed to anterior ischaemic optic neuropathy; however, the pathophysiology remains poorly understood. Retrobulbar optic neuropathy associated with IFN treatment has not been described in the medical literature to date. We report the case of a 38-year-old Caucasian female with refractory acute myeloid leukaemia who developed painless bilateral blurred vision within 2 weeks of commencing a course of IFN alpha-2a. Extensive clinical workup demonstrated bilateral retrobulbar optic neuropathy. We report the clinical evaluation of this first documented case and discuss the possible aetiologies of her presentation.

Cystoid macular edema in a patient with Danon disease.

To report a patient with Danon retinopathy with cystoid macular edema treated with topical dorzolamide 2% eye drops and oral acetazolamide. A 37-year-old Caucasian man with Danon disease treated with topical and oral carbonic anhydrase inhibitors participated in the study. Examinations performed before and during treatment included visual acuity (VA), spectral-domain optical coherence tomography, and electroretinography. Following total 48 weeks of treatment, VA decreased from 20/30 OD, 20/200 OS, to 20/40 OD, CF OS. The mean central retinal thickness was unchanged from baseline 263 µm OD , 226 µm OS, after treatment 283 µm OD and 202 µm OS. In our case, carbonic anydrase inhibitors were not effective. However, a general recommendation cannot be given based on a single case.

Orbital compartment syndrome following aneurysm surgery.

Orbital compartment syndrome (OCS) is a rare cause of blindness following intracranial surgery. We report a patient with OCS following intracranial cerebrovascular surgery precipitated by severe straining. OCS occurred due to a rapid increase in intraorbital pressure within the rigid confines of the orbit causing hypoperfusion of critical neural structures, which resulted in visual loss and a complete external ophthalmoplegia. Treatment involved urgent surgical soft tissue decompression of the orbit, corticosteroids and osmotic agents. It is important to consider OCS as a cause of blindness in the neurosurgical postoperative setting as without rapid treatment this condition has a very poor prognosis.

Becoming an expert: a review of adult learning theory and implications for vocational training in ophthalmology.

One of the key responsibilities of professional bodies, such as the Royal Australian and New Zealand College of Ophthalmologists, is to determine, teach and assess the competencies required for trainees to reach an expert level. Vocational training programs (VTP) need to incorporate advances in educational research and reflect changes in generational thinking and learning styles to provide the most optimal learning environment to meet the desired educational outcomes. This paper seeks to introduce some of the important concepts of adult educational theory and to explain how they connect to four strategic areas in the development and implementation of the VTP: 1 What are the learning needs of trainees? 2 What educational methods best address these needs? 3 What assessment methods best test the acquisition of the desired learning outcomes? 4 What are the needs of supervisors and teachers?