Case Presentation Format Research Articles

Inherited retinal disease

AbstractPurpose To illustrate several inherited retinal dystrophies and dysfunctions and their management in the ophthalmic genetic clinic.Methods A case presentation format will be used to illustrate different genetically determined retinal dystrophies and dysfunctions. Case descriptions will include clinical and electrophysiological phenotypes as well as genotypes.Results Phenotypes and genotypes of genetically determined retinal diseases are very different. An important distinction to be made is the one between stationary and progressive diseases, as the visual outcome differs considerably between different conditions.Conclusion Inherited retinal diseases are very diverse. Taking a thorough history in combination with an extensive clinical examination and psychophysical and electrophysiological tests most often allows a to make a specific diagnosis. It is important to distinguish between progressive and stationary conditions.

Photophobia in inherited retinal disease

AbstractPurpose To describe the phenotypes and genotypes of photophobia due to inherited retinal disease.Methods A case presentation format will be used to illustrate different genetically determined conditions leading to photophobia. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed.Results Phenotypes and genotypes of genetically determined diseases leading to photophobia are very different. An important distinction to be made is the one between stationary and progressive diseases. Indeed, such distinction is important as the visual outcome may differ considerably between different conditions.Conclusion Genetically determined retinal diseases leading to photophobia are very diverse. Visual electrophysiology allows an important distinction between progressive and stationary conditions.

Mechanisms & recovery of vitamin A deficiency

AbstractPurpose To illustrate different mechanisms which lead to vitamin A deficiency and result in retinal dysfunction. To show how a diagnosis can be made, and how, and to which degree, in such cases, retinal function can be recovered.Methods A case presentation format will be used to illustrate different mechanisms of retinal dysfunctions due to vitamin A deficiency. Patient history taking, clinical and electrophysiological phenotypes and therapeutic approaches will be addressed.Results Mechanisms of vitamin A deficiency are very different, but all have fat malabsorption in common. Often, other concomitant vitamin deficiencies exist. With vitamin A repletion therapy, either partial or complete restoration of retinal function can be attained.Conclusion Causes of vitamin A deficiency are very diverse. Thorough history taking, in combination with an extensive clinical examination and psychophysical and electrophysiological tests, most often allows making a more specific diagnosis of an underlying malabsorption. Vitamin A repletion therapy is effective in such cases.

Causes of night blindness

AbstractPurpose To describe the causes of both genetically determined and acquired night blindness.Methods A case presentation format will be used to illustrate different genetically determined and acquired conditions leading to night blindness. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed.Results Phenotypes and genotypes of genetically determined diseases leading to night blindness are very different. An important distinction to be made is the one between stationary and progressive diseases. Indeed, other than night blindness the visual outcome differs considerably between different conditions.Conclusion The causes of night blindness are diverse. Taking a thorough history in combination with an extensive clinical examination and psychophysical and electrophysiological tests most often allows a to make a specific diagnosis. Acquired conditions are generally treatable, and should be differentiated from those that are inherited. For genetic disease, it is important to distinguish between progressive and stationary conditions.

The Bestrophinopathies

AbstractPurpose To describe the phenotypes of conditions due to mutations in BEST1, the gene encoding bestrophin‐1.Methods A case presentation format will be used to illustrate the phenotypes and genotypes of the different bestrophinopathies, with special attention to both the clinical and electrophysiological features that distinguish one phenotype from the other, and those they have in common. In addition, the different BEST1 genotypes will be discussed.Results The phenotypes of Best vitelliform macular dystrophy (BVMD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and autosomal recessive bestrophinopathy (ARB) are very different as far as their clinical phenotypes are concerned. Nevertheless at the electrophysiological level, they share an abnormal electro‐oculography (EOG) as a common feature. Electroretinography is normal in BVMD, whereas a rod‐cone dystrophy is evident in the later stages of disease of ADVIRC and ARB. The BEST1 genotypes differ in that BVMD is due to a heterozygous missense mutation in BEST1, ADVIRC is due to interaction of several bestrophin protein isoforms, and ARB is probably the null phenotype.Conclusion The phenotypes of the bestrophinopathies are diverse, although they share an abnormal EOG as the common feature. The specific genotypes are also different, leading to different molecular pathogenetic mechanisms.

Controversies in the Management of Pediatric Aspiration

Program Description: This miniseminar is supported by the Airway and Swallowing Committee. It will be an open forum and interactive discussion on the management of dysphagia and aspiration in the pediatric population. The panelists will discuss diagnostic methods as well as medical and surgical treatment options. They will assist the attendee in understanding the pathophysiology and morbidity of chronic aspiration in children. A case presentation format will be used and the audience will be able to help determine the focus of the discussion. Attendees will have the opportunity to submit a case for presentation by emailing to aspirationaao@me.com prior to the meeting. Each case presented will have a set of questions developed regarding differential diagnosis, evaluation, and treatment for the audience to select prior to discussion by the panel. The audience response will be a springboard for more in-depth discussions. Controversies that will be reviewed include the use of videofluoroscopic swallow studies vs fiber optic endoscopic evaluation of swallowing; sialorrhea management options, including botox, ductal ligation, and salivary gland excision, and surgical management options for persistent aspiration following maximal treatment for sialorrhea and GERD. Educational Objectives: 1) Understand diagnostic tests available for children with dysphagia and aspiration. 2) Formulate algorithm for investigation of children who present with symptoms of dysphagia and aspiration. 3) Understand treatment options for mild, moderate, and severe dysphagia and aspiration.

Complications in FESS: Doing Right When Things Go Wrong

Program Description: Functional Endoscopic Sinus Surgery (FESS) is one of the most frequently performed procedures in otorhinolaryngology and is thus responsible for a significant incidence of complications. Thorough knowledge of the paranasal sinuses and their surrounding structures and adequate surgical experience are keys to preventing surgical complications. Special considerations in hemostasis help optimize visualization and increase safety. Meticulous preoperative review of the patient’s imaging studies is critical in successfully identifying the patient’s unique anatomic and surgical issues, thereby facilitating avoidance of complications. Maxillofacial CT is an absolute requirement prior to surgery, and systematic review of danger areas is critical. These will be reviewed and discussed in detail. Despite these preparatory measures, both minor and major complications may still occur. The surgeon must therefore possess the skill set to deal with these complications in order to consider him- or herself a safe surgeon. Specific complications including cerebrospinal fluid leak, neurovascular injuries, and orbital complications will be discussed in a case presentation format. Algorithms on how to address such scenarios will be presented. Finally, the medicolegal aspects of surgical complications will be considered including documentation and discussion with the patient and their families. Educational Objectives: 1) Learn strategies to avoid complications during FESS. 2) Understand management (both surgical and medicolegal) of FESS-related complications.

Rhinology/Allergy

Program Description: The miniseminar provides an open forum for interactive discussion of management options and the decision rationale involved in sinus and skull base cases of varying complexity. A case presentation format is utilized with case presentations from each of the panelists. Questions regarding differential diagnosis, evaluation, imaging, and treatment are posed to the audience in multiple choice format. The responses provided by the audience response system are then discussed and expanded upon by the panelists in an interactive discussion. In general, cases are selected that might be encountered by either a general otolaryngologist or a subspecialty rhinologist, but which have important decision and management dilemmas. Each panelist has been chosen because of their depth of knowledge in the field and because of the clarity of their presentations. Particular emphasis is placed on the decision making process and on frontal sinus disease, revision surgery, and fungal sinusitis, as well as the management of more common tumors. The rationale behind each recommendation will be carefully elucidated. Discussion from the floor is encouraged and the use of a touch pad audience response system creates audience participation as an integral aspect of the case discussions. Educational Objectives: 1) Improve knowledge of the surgical decision making process in chronic sinus disease. 2) Learn different imaging modalities and improve quality of interpretation for both CT and MRI images. 3) Improve understanding of the management of difficult to treat chronic rhinosinusitis.

Potential retinal causes: when and how to investigate

Abstract Purpose To describe the retinal conditions that need to be excluded when non‐organic visual loss is suspected, and the investigations required to either confirm or exclude them. Methods A case presentation format will be used to illustrate those conditions which can be discovered using psychophysical and electrophysiological tests as well as special imaging including autofluorescence, infrared and red free imaging and spectral‐domain optical coherence tomography, in patients in whom a non‐organic origin for visual loss is suspected. Results Inherited retinal diseases such as Stargardt macular dystrophy, X‐linked retinoschisis and cone dystrophy as well as Batten disease in their early stages all need to be excluded when visual loss is thought to be non‐organic. In addition, several acquired retinal conditions such as acute acular neuroretinopathy need to be taken into account. visual field testing, ISCEV‐standard full‐field flash electroretinography, pattern electroretinography and visual evoked potentials and specialised imaging techniques contribute significantly to making the correct diagnosis. Conclusion Visual loss in a list of organic conditions may mimic non‐organic visual loss. Functional testing as well as specialised imaging techniques are essential in differentiating true organic from non‐organic visual loss.

Ask the Experts: An Endoscopic Potpourri

Program Description:Rhinologic diagnostic and treatment problems commonly create dilemmas in practice. This miniseminar provides for interactive discussion of the management options and the decision rationale involved in difficult sinus diagnostic and treatment situations. A case presentation format is used with case presentations from each of the panelists emphasizing questions with regard to differential diagnosis, evaluation, imaging, and treatment. Cases are representative of those encountered by either a general otolaryngologist or a subspecialty rhinologist but have critical decision points for discussion. The session focuses on the decision-making process, frontal sinus disease, revision surgery, and fungal sinusitis, as well as common tumors.Educational Objectives:(1) Review the surgical decision-making process in chronic sinus disease. (2) Implement different imaging modalities and improved quality of interpretation for both computed tomography and magnetic resonance images. (3) Improve the manag...

Retinal causes

Abstract Purpose To describe conditions which affect retinal function and can lead to seeing things which aren't there. Methods A case presentation format will be used to illustrate different genetically and environmentally determined conditions leading to visual hallucinations. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Results Phenotypes of environmentally and genetically determined retinal diseases leading to visual hallucinations are very different. In some instances, the ophthalmologist can make a real difference when systemic treatment is indicated. Conclusion Very diverse conditions may give rise to seeing things which aren't there. Clinical examination and electrophysiology allow making a correct diagnosis, with sometimes far reaching implications for therapy.

Doctor, my baby doesn't fix and follow

Abstract Purpose To describe the phenotypes and genotypes of genetically determined disease leading to either abnormalities of, or complete absence of visual development in the first few years of life. Methods A case presentation format will be used to illustrate different genetically determined conditions leading to delayed or absent visual development. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Results Phenotypes and genotypes of genetically determined diseases leading to delayed or absent visual development are very different. An important distinction to be made is the one between stationary and progressive diseases. Indeed, such distinction is important as the visual outcome varies considerably between those different conditions. Conclusion Very diverse conditions may give rise to genetically determined abnormal visual development. Genetics and visual electrophysiology allows an important distinction between progressive and stationary conditions.

Electroretinography

Abstract Purpose To illustrate the value of electroretinography in clinical practice. Methods A case presentation format will be used to illustrate how pattern electroretinography, full‐field flash electroretinography and multifocal electroretinography can be used in clinical practice. Results As will be shown by the cases to be discussed, each of the electroretinography techniques has a specific role to play in making a better diagnosis. Conclusion All electroretinography techniques have a specific role to play in the evaluation of retinal disease.

Genetic determinants of abnormal eye movements

Abstract Purpose To describe the phenotypes and genotypes of genetically determined disease leading to nystagmus. Methods A case presentation format will be used to illustrate different genetically determined conditions leading to nystagmus. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Results Phenotypes and genotypes of genetically determined nystagmus are very different. An important distinction to be made is the one between stationary and progressive diseases. Indeed, such distinction is important as the visual outcome varies considerably between those different conditions. Conclusion Very diverse conditions may give rise to genetically determined nystagmus. Genetics and visual electrophysiology allows an important distinction between progressive and stationary conditions.

Pulmonary embolism in the ECT patient: a case report and discussion

Objectives Our objective was to discuss the risk for pulmonary embolism (PE) in the patient population with comorbid psychiatric and medical issues and risk management. It was also our objective to discuss the potential use of electroconvulsive therapy (ECT) following a PE with a case presentation format. Methods We present a case report, a review of the literature and a discussion. Results We report on the case of a 68-year-old man with bipolar disorder who had a PE after two ECTs. He required stabilization and treatment in the intensive care unit before returning to the psychiatry unit for completion of a course of ECT, which was well tolerated and highly effective. Conclusions Patients with comorbid medical and psychiatric illness are at high risk of developing deep venous thrombus/PE and need to be monitored for this. They often require ECT, which can be administered safely even after a PE.

Photophobia in inherited retinal disease

Abstract Purpose: To describe the phenotypes and genotypes of genetically determined photophobia. Methods: A case presentation format will be used to illustrate different genetically determined conditions leading to photophobia. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Results: Phenotypes and genotypes of genetically determined diseases leading to photophobia are very different. An important distinction to be made is the one between stationary and progressive diseases. Indeed, such distinction is important as the visual outcome may differ considerably between different conditions. Conclusions: Genetically determined photophobia is diverse. Visual electrophysiology allows an important distinction between progressive and stationary conditions.

Retinal dystrophies & dysfunctions

Abstract Purpose: To provide an overview of the current status of knowledge in inherited retinal dystrophies and dysfunctions. Methods: A case presentation format will be used to illustrate an overview of current insights into genotypes and phenotypes of generalised dystrophies and dysfunctions of the retina. Results: Much progress has been made in unravelling the molecular mysteries underlying generalised retinal dystrophies and dysfunctions, with a wide variety of functions attributed to proteins encoded by causative genes. Conclusions: Rapid progress is being made in the field of generalised genetic retinal disease, with the first gene therapy trial for Leber congenital amaurosis currently underway.

Mechanisms of Mitochondrial Disease and the Role of Exercise: A Symposium

Mechanisms of Mitochondrial Disease and the Role of Exercise: A Symposium

Miniseminar: Ask the experts: An endoscopic sinus surgery potpourri

This popular panel provides an open forum for interactive discussion of the management options and the decision rationale involved in difficult sinus cases and complicated treatment situations. A case presentation format will be utilized with presentations from each of the panelists. Questions regarding differential diagnosis, evaluation, and treatment are posed to the audience in multiple choice format. The responses provided by the audience response system are then discussed and expanded on by the panelist. Each panelist has been chosen because of their depth of knowledge in the field and because of the clarity of their presentations. Particular emphasis will be placed on the decision-making process and on frontal sinus disease, revision surgery, fungal sinusitis, and the management of more common tumor. The rationale behind each recommendation will be carefully elucidated. Discussion from the floor is encouraged. (Audience touch-pad participation will be limited to the number of devices available or on a first-come, first-served basis).

Miniseminar: Robotic surgery in otolaryngology: A look into the future

The moderator and discussants will introduce the audience to the rapidly expanding field of surgical robotics, using primarily a didactic format, with liberal use of videotape demonstrations. An evidence-based and case presentation format will be used to cover 3 primary areas of emphasis: 1. Introduction of the field of robotics, and some of the nonotolaryngologic applications. The first presentation will have wide applicability in that it will not only introduce the field of robotics to those unfamiliar and with an interest in pursuing it, but will also instill in the novice a first-level understanding of the technology, so that they can interact with interested patients in an informed manner. In addition to some historical comments, nonotolaryngology procedures will be mentioned, and early efforts in pediatric otolaryngology will be addressed. 2. Experimental studies in otolaryngologic procedures. For those with a higher-intensity interest in the experimental introduction of robotics to otolaryngology, this second segment will cover some of the earliest investigations that were performed in both an animal and cadaver model to assess the feasibility of merging endoscopic neck surgery and robotic surgery. 3. Early clinical applications in thyroid surgery and laryngoscopic procedures. The most prevalent surgical robot has already made its way into the otolaryngology operating suite, and this final discussant will share details about the advantages, limitation, and future potential of the clinical applications, particularly regarding thyroid and laryngoscopic surgery. The final 15 minutes will be reserved for an open forum that encourages interactive dialogue between and among the discussants and the audience regarding the appropriate future directions for surgical robotics, particularly limitations of the technology, and some of the ethical considerations.