Heather G. Mack

Isolated metastases to the retina or optic nerve.

Isolated metastases to the retina or optic nerve are extremely rare. Retinal metastases arise from cutaneous malignant melanoma and carcinomas (lung, gastrointestinal, genitourinary, and breast). Most patients present with reduced vision. The clinical appearance of these metastases is variable. Melanoma metastases are brown or black, whereas carcinoma metastases are white. Frequently, retinal hemorrhages and exudates are seen. Optic nerve metastases arise from carcinomas (lung, breast, and gastrointestinal) in adults and acute leukemias in children. As is true of retinal metastases, most patients present with reduced vision. Though in most cases there is a visible optic nerve mass, some patients have optic disc edema only. Investigations are directed by a known history of malignancy in many patients and by physical examination. Cytological workup of vitreous may be required. Treatment options include observation, radiotherapy in eyes with visual potential, and enucleation for pain control. The visual prognosis is poor. In patients with retinal or optic nerve metastases, median survival is approximately 9 months after the onset of visual symptoms, but is slightly longer in cases in which the primary lesion is breast carcinoma.

Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable. In contrast, the rarer ophthalmic complications of posterior polymorphous corneal dystrophy, giant macular hole, and maculopathy all produce visual loss. Many of the ocular features of Alport syndrome are common, easily recognizable, and thus, helpful diagnostically, and in identifying the likelihood of early-onset renal failure. Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. A peripheral retinopathy in the mother of a male with hematuria suggests X-linked inheritance, and central retinopathy or lenticonus in a female means that recessive disease is likely. Ocular examination, retinal photography, and optical coherence tomography are widely available, safe, fast, inexpensive, and acceptable to patients. Ocular examination is particularly helpful in the diagnosis of Alport syndrome when genetic testing is not readily available or the results are inconclusive. It also detects complications, such as macular hole, for which new treatments are emerging.

Retinal disease in the C3 glomerulopathies and the risk of impaired vision

ABSTRACT Background: Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations. This study describes the retinal abnormalities in dense deposit disease and, for the first time, atypical haemolytic uremic syndrome. It also reviews our understanding of drusen pathogenesis and their relevance for glomerular disease. Methods: Six individuals with dense deposit disease and one with atypical haemolytic uremic syndrome were studied from 2 to 40 years after presentation. Five had renal transplants. All four who had genetic testing had CFH mutations. Individuals underwent ophthalmological review and retinal photography, and in some cases, optical coherence tomography, and further tests of retinal function. Results: All subjects with dense deposit disease had impaired night vision and retinal drusen or whitish-yellow deposits. Retinal atrophy, pigmentation, and hemorrhage were common. In late disease, peripheral vision was restricted, central vision was distorted, and there were scotoma from sub-retinal choroidal neovascular membranes and atypical serous retinopathy. Drusen were present but less prominent in the young person with atypical uremic syndrome due to a heterozygous CFH mutation. Conclusions: Drusen are common in forms of C3 glomerulopathy caused by compound heterozygous or heterozygous CFH mutations. They are useful diagnostically but also impair vision. Drusen have an identical composition to glomerular deposits. They are also identical to the drusen of age-related macular degeneration, and may respond to the same treatments. Individuals with a C3 glomerulopathy should be assessed ophthalmologically at diagnosis, and monitored regularly for vision-threatening complications.

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:

Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome.

ABSTRACT Background and Objectives: The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. Methods: We identified a case of bull’s eye maculopathy 20 years previously in a 68-year-old female, and reviewed archived retinal images from our cohort of X-linked (28 males, 28 females) or autosomal recessive (n = 13) Alport syndrome. All individuals had Alport syndrome confirmed on genetic testing or renal biopsy, were examined by an ophthalmologist, and underwent retinal imaging (KOWA non-mydriatic camera, Japan). Results: The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m2), bilateral hearing loss, and central and peripheral retinopathies. Her maculopathy had deteriorated, and she had a bilateral central visual field loss. Optical coherence tomography (Heidelberg Spectralis) demonstrated a disrupted retinal pigment epithelium and retinal atrophy. We identified a further early bull’s eye maculopathy (1/69, 1.4%) from a female with autosomal recessive disease and normal renal function. We also noted a subtle pigment maculopathy associated with an abnormal retinal pigment epithelium in 27 (27/69, 39%) subjects with Alport syndrome, in both males (8/28, 29%) and females (13/28, 46%) with X-linked disease, and in autosomal recessive disease (6/13, 38%). Conclusions: The bull’s eye and pigment maculopathies in Alport syndrome result mainly from the damaged Bruch’s membrane and overlying retinal pigment epithelium. Bull’s eye maculopathy affects vision and patients should undergo regular monitoring for retinal complications.

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.

Behavioral measures of cortical hyperexcitability assessed in people who experience visual snow

Objective: To determine whether visual perceptual measures in people who experience visual snow are consistent with an imbalance between inhibition and excitation in visual cortex. Methods: Sixteen patients with visual snow and 18 controls participated. Four visual tasks were included: center-surround contrast matching, luminance increment detection in noise, and global form and global motion coherence thresholds. Neuronal architecture capable of encoding the luminance and contrast stimuli is present within primary visual cortex, whereas the extraction of global motion and form signals requires extrastriate processing. All these tasks have been used previously to investigate the balance between inhibition and excitation within the visual system in both healthy and diseased states. Results: The visual snow group demonstrated reduced center-surround contrast suppression (p = 0.03) and elevated luminance increment thresholds in noise (p = 0.02). Groups did not differ on the global form or global motion task. Conclusion: Our study demonstrates that visual perceptual measures involving the suprathreshold processing of contrast and luminance are abnormal in a group of individuals with visual snow. Our data are consistent with elevated excitability in primary visual cortex; however, further research is required to provide more direct evidence for this proposed mechanism. The ability to measure perceptual differences in visual snow reveals promise for the future development of clinical tests to assist in visual snow diagnosis and possibly a method for quantitatively assaying any benefits of treatments.

Free Continuing Professional Development Resources for Low-Resource Settings.

We agree with Hudspeth et al regarding challenges for physicians undertaking continuing professional development (CPD) in low-resource settings and the need for development of CPD materials in a multilateral manner. They envisage using the Internet to disseminate material suitable for each country via a range of approaches, including databases of CPD presentations and interactive modules for individual clinicians. Ophthalmology has a proud history of promoting high standards of patient care through education. The International Council of Ophthalmology (ICO) dates back to 1857 when 150 ophthalmologists from 24 countries convened in Brussels for the first World Ophthalmology Congress. Participants in the Congress founded the ICO in 1927 in Scheveningen, Holland. The ICO represents 141 national ophthalmic societies and subspecialty groups, many of which are in low-resource countries. ICO educational materials are examples of multilateral CPD already developed for low-resource settings, disseminated via the Internet, available free of charge, and available in different languages. Among the many resources relevant to CPD are the following:

Conduzindo de Forma Efetiva Experiências de Aprendizagem em Desenvolvimento Profissional Contínuo

This narrative review focuses on the conceptual learning cycle and covers the key practical aspects of reflecting on personal career development, deciding on the most appropriate learning experiences to undertake and self-assessment to successfully fill learning gaps. We a) describe the rationale behind the systematic learning cycle, b) explain a practical model of conducting an effective continuing professional development (CPD) plan under the physician perspective, c) summarize methods of gap analysis and needs assessment, learning methodologies, and assessment strategies suited to the physician educational practice. We conclude by expressing our own views on the topic within the broad frame of the CPD stakeholders’ multiple perspectives. Palavras-chave: Educação Médica Continuada; Avaliação; Aprendizagem. Undertaking Effective Continuing Professional Development Learning Experiences http://eoftalmo.org.br REVISÃO NARRATIVA DE LITERATURA RESUMEN Esta revisión narrativa se centra en el concepto del ciclo de aprendizaje y aborda los principales aspectos prácticos sobre el desarrollo de la carrera profesional sugiriendo las experiencias de aprendizaje más apropiadas para conducir y autoevaluar con éxito el llenado de las lagunas de aprendizaje identificadas en la práctica clínica. En el artículo presentamos: a) la descripción del racional subyacente al ciclo sistemático de aprendizaje, b) la explicación de un modelo práctico para la conducción de un plan de desarrollo profesional continuo (DPC) desde la perspectiva del médico especialista, c) un resumen de los resultados métodos analíticos de lagunas en la práctica clínica y de la evaluación de necesidades, de metodologías de aprendizaje y de estrategias de evaluación más apropiadas en educación médica continua y desarrollo profesional. Concluimos expresando nuestros puntos de vista sobre el tema en el contexto de las múltiples perspectivas de las distintas partes interesadas en el DPC.