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150: Genetics workshop: Part 1. The era of molecular ophthalmology
e36 pediatric oncologists at their American Society of Pediatric Hematology/Oncology (ASPHO) meeting in April, 2008. Methods: The Workshop focuses on explaining the 4 open retinoblastoma treatment protocols, along with the RB1 Gene/Epidemiology Study, The Rb Survivor (Late Effects) Study and the Biology Initiative to pediatric ophthalmologists. It offers AAPOS members clear guidelines on which patients are eligible and how to get patients enrolled. The role of the pediatric ophthalmologist in providing local consolidation therapy, subtenon carboplatin, and harvest of fresh retinoblastoma will be discussed. Conclusions: The Workshop provides practical information to pediatric ophthalmologists about COG protocols. In addition, it outlines the benefits of COG protocol-based treatment to the patient and enrolling institutions. 144 Pediatric cataract surgery—management strategies for intraand postoperative complications. Ken K. Nischal, I. Chris Lloyd, Shira Robbins This workshop will present 9 case presentations that demonstrate different hurdles and complications faced during pediatric cataract surgery with and without primary implantation. The case scenarios include posterior lenticonus, persistent fetal vasculature, juvenile idiopathic arthritis-related cataract, chronic inflammation postsecondary IOL, anterior capsular tears, traumatic cataract, postoperative glaucoma, coloboma, and microphthalmos. Each case presentation includes video of surgical strategies with evidence based literature. Signs before and during surgery to warn the surgeon of potential problems are discussed. The various viscosurgical devices and instrumentation available are discussed and their use in the various scenarios to enhance surgical outcome. 145 Difficult problems: Strabismus. David A. Plager, Jonathan Holmes, Burton Kushner, John Lee, Edward O'Malley, David Stager Sr. This workshop will cover the diagnosis and management of challenging but not necessarily unusual problems in strabismus. This will be done through detailed case presentations using photographs, video, and other relevant data, followed by panel discussion. 146 Adult strabismus workshop. David R. Stager Sr., David L. Guyton, Burton J. Kushner, Arthur L. Rosenbaum, Alan B. Scott, David R. Stager Jr. Topics: 1. Video as a teaching tool 2. Instructive case presentations to illustrate diagnostic and therapeutic aspects of adult strabimus 147 Leber congenital amaurosis: Clinical course, phenotype/ genotype correlations, clinical trials update and future directions. Elias I. Traboulsi, Daniel C. Chung Leber Congenital Amaurosis is a group of early-onset childhood retinal dystrophies, characterized by vision loss, nystagmus, and severe retinal dysfunction. Fifteen causative genes have been identified to date, accounting for the heterogeneous presentation and clinical course. The knowledge of key aspects of phenotype and clinical course can contribute to the determination of a precise genetic etiology using genetic testing. This workshop will allow physicians to (1) review clinical presentation and disease course, (2) correlate phenotypic characteristics to specific genotypes, (3) present gene specific mechanisms of disease, and (4) discuss/update results of recent human clinical trials for RPE65 LCA.
Volume 13 Number 1 / February 2009 148 Understanding skew deviation and differentiating it from trochlear nerve palsy. Agnes M. F. Wong Skew deviation is a vertical strabismus that is commonly accompanied by abnormal ocular torsion and head tilt (ie, the ocular tilt reaction). It is often the initial manifestation of diseases affecting the brainstem or cerebellum. Because both skew deviation and cranial fourth nerve palsy may result from intracranial lesions or trauma, and because some skew deviation may mimic fourth nerve palsy clinically, differentiating these two conditions can be challenging. Understanding skew deviation remains difficult, partly because it requires knowledge of the underlying anatomy and pathophysiology. In this workshop, we will first examine and compare the clinical presentation of the skew deviation vs fourth nerve palsy. We will then focus on understanding the pathophysiology of skew deviation, and examine some current evidence that show that skew deviation results from imbalance of the vestibulo-ocular reflex (VOR) projections from the utricles in the inner ears to ocular motoneurons. On the basis of this new knowledge, we will then discuss a novel clinical test that can be used to differentiate skew deviation from fourth nerve palsy at bedside. At the end of the workshop, the participants should be able to better understand skew deviation, including its causes, pathophysiology and clinical presentation, as well as differentiate it from fourth nerve palsy in the clinical setting. 149 Managing a child with an external ocular disease. Inez B. Y. Wong, Ken K. Nischal There are some common external eye diseases that affect children commonly. This interactive workshop presents an anatomical and physiological understanding for the basis of treatment of external eye diseases that result in ocular surface disruption. Four areas are specifically covered using case scenarios and evidence based detail: 1. Chronic conjunctivitis: a. Blepharokeratoconjunctivitis: management strategies for recurrent chalazia and corneal involvement together with simple clinical clues for diagnosing lid margin disease b. Allergic conjunctivitis: rationale for systemic and topical treatment and indications for surgical intervention c. Infection related conjunctivitis - case scenarios to show how infection related cases were missed and treated for other conditions 2. Persistent epithelial defect: Therapeutic modalities are discussed including autologous serum, botulinum-induced ptosis, lateral tarsorraphy, and if the cornea is thinning, amniotic membrane graft. The role of different tissue glues is discussed. 3. Persistent epithelial erosions: may occur for a variety of reasons. It is important to differentiate exposure keratopathy from inflammatory, toxic or mechanical traumatic causes because treatment varies. The workshop will demonstrate signs that help differentiate these various causes. 4. Lubricants for children: In the past 12 months, there has been an explosion of different topical lubricants that have been marketed for 'dry eyes'. We explain the rationale for using different lubricants in the different conditions described above and when to combine different lubricants for greatest efficacy and perhaps most importantly, when to consider alternative strategy. 150 Genetics workshop: Part 1. The era of molecular ophthalmology. Terri L. Young, Arlene V. Drack Using the resources and technologies of the Human Genome Project, researchers have made considerable progress toward personalized ophthalmic care. Nearly 1,000 genes are associated with
Journal of AAPOS
Volume 13 Number 1 / February 2009 ocular disease. Most genes are responsible for rare, Mendelian disorders, but recent discoveries have identified genes that contribute to common diseases, such as macular degeneration and pseudoexfoliative glaucoma. Screening strategies could identify individuals at risk or who are mutation carriers, and provide the right choice of selective therapy. Pharmacogenomic studies could identify risk factors that influence the effectiveness of ophthalmic medications, or reveal genetic factors that predispose individuals to adverse events. Genedirected therapies (both gene replacement and biological therapies) could result in cures. This course will (1) cover the basics and ter-
Journal of AAPOS
e37 minology of molecular genetics, including phenotype definitions (qualitative trait, quantitative trait, syndrome, common complex disorder), and genotype definitions (cytogenetic changes, sequence variants, single nucleotide polymorphism associations, copy number variants, epigenetics, miRNA); (2) provide examples of inherited eye diseases with these genotypic changes; (3) provide examples of treatment mechanisms for selected genetic ocular disorders (replacement molecule therapy, adenoviral vectors); (4) provide an update on animal and human clinical trials for specific genetic eye disorders.
Volume 13 Number 1 / February 2009 148 Understanding skew deviation and differentiating it from trochlear nerve palsy. Agnes M. F. Wong Skew deviation is a vertical strabismus that is commonly accompanied by abnormal ocular torsion and head tilt (ie, the ocular tilt reaction). It is often the initial manifestation of diseases affecting the brainstem or cerebellum. Because both skew deviation and cranial fourth nerve palsy may result from intracranial lesions or trauma, and because some skew deviation may mimic fourth nerve palsy clinically, differentiating these two conditions can be challenging. Understanding skew deviation remains difficult, partly because it requires knowledge of the underlying anatomy and pathophysiology. In this workshop, we will first examine and compare the clinical presentation of the skew deviation vs fourth nerve palsy. We will then focus on understanding the pathophysiology of skew deviation, and examine some current evidence that show that skew deviation results from imbalance of the vestibulo-ocular reflex (VOR) projections from the utricles in the inner ears to ocular motoneurons. On the basis of this new knowledge, we will then discuss a novel clinical test that can be used to differentiate skew deviation from fourth nerve palsy at bedside. At the end of the workshop, the participants should be able to better understand skew deviation, including its causes, pathophysiology and clinical presentation, as well as differentiate it from fourth nerve palsy in the clinical setting. 149 Managing a child with an external ocular disease. Inez B. Y. Wong, Ken K. Nischal There are some common external eye diseases that affect children commonly. This interactive workshop presents an anatomical and physiological understanding for the basis of treatment of external eye diseases that result in ocular surface disruption. Four areas are specifically covered using case scenarios and evidence based detail: 1. Chronic conjunctivitis: a. Blepharokeratoconjunctivitis: management strategies for recurrent chalazia and corneal involvement together with simple clinical clues for diagnosing lid margin disease b. Allergic conjunctivitis: rationale for systemic and topical treatment and indications for surgical intervention c. Infection related conjunctivitis - case scenarios to show how infection related cases were missed and treated for other conditions 2. Persistent epithelial defect: Therapeutic modalities are discussed including autologous serum, botulinum-induced ptosis, lateral tarsorraphy, and if the cornea is thinning, amniotic membrane graft. The role of different tissue glues is discussed. 3. Persistent epithelial erosions: may occur for a variety of reasons. It is important to differentiate exposure keratopathy from inflammatory, toxic or mechanical traumatic causes because treatment varies. The workshop will demonstrate signs that help differentiate these various causes. 4. Lubricants for children: In the past 12 months, there has been an explosion of different topical lubricants that have been marketed for 'dry eyes'. We explain the rationale for using different lubricants in the different conditions described above and when to combine different lubricants for greatest efficacy and perhaps most importantly, when to consider alternative strategy. 150 Genetics workshop: Part 1. The era of molecular ophthalmology. Terri L. Young, Arlene V. Drack Using the resources and technologies of the Human Genome Project, researchers have made considerable progress toward personalized ophthalmic care. Nearly 1,000 genes are associated with
Journal of AAPOS
Volume 13 Number 1 / February 2009 ocular disease. Most genes are responsible for rare, Mendelian disorders, but recent discoveries have identified genes that contribute to common diseases, such as macular degeneration and pseudoexfoliative glaucoma. Screening strategies could identify individuals at risk or who are mutation carriers, and provide the right choice of selective therapy. Pharmacogenomic studies could identify risk factors that influence the effectiveness of ophthalmic medications, or reveal genetic factors that predispose individuals to adverse events. Genedirected therapies (both gene replacement and biological therapies) could result in cures. This course will (1) cover the basics and ter-
Journal of AAPOS
e37 minology of molecular genetics, including phenotype definitions (qualitative trait, quantitative trait, syndrome, common complex disorder), and genotype definitions (cytogenetic changes, sequence variants, single nucleotide polymorphism associations, copy number variants, epigenetics, miRNA); (2) provide examples of inherited eye diseases with these genotypic changes; (3) provide examples of treatment mechanisms for selected genetic ocular disorders (replacement molecule therapy, adenoviral vectors); (4) provide an update on animal and human clinical trials for specific genetic eye disorders.