Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

Congenital cranial dysinnervation disorders

For video accompanying this chapter and supplementary materials see ExpertConsult.com. See inside cover for access details. Introduction The term “congenital cranial dysinnervation disorders” (CCDDs) refers to a group of congenital, non-progressive disorders resulting from developmental abnormalities of one or more cranial nerves or their nuclei and primary/secondary dysinnervation. A few common features characterize the patients with CCDDs ( Box 84.1 ). Box 84.1 Common features of…

“A,” “V,” and other pattern strabismus

For videos accompanying this chapter see ExpertConsult.com. See inside cover for access details. Overview and Definitions The terms “A” and “V” pattern describe horizontal strabismus that is vertically incomitant. It is characterized by a substantial difference in the horizontal deviation between the midline upgaze and downgaze positions. A patient with a V pattern is more esotropic or less exotropic in downgaze than upgaze ( Fig. 83.1…

Vertical strabismus

For videos accompanying this chapter see ExpertConsult.com. See inside cover for access details. Overview and Definitions For a patient with vertical strabismus, one should first determine whether the deviation is comitant or incomitant. If the latter, one next determines if the problem is paretic, restrictive, or a manifestation of primary oblique muscle dysfunction. Finally, one determines if the deviation is dissociated (e.g. does not appear to…

Special forms of comitant exotropia

Introduction Exotropia is a manifest divergent squint. A comitant squint is one in which the angle of deviation is the same in all positions of gaze, regardless of which eye is fixing. This chapter addresses infantile exotropia, cyclic exotropia, micro-exotropia (monofixation), sensory exotropia, and consecutive exotropia. Other than consecutive exotropia, many of these entities are uncommon. A guide for the practising ophthalmologist on the background and…

Intermittent exotropia

Definition Exodeviation may be controlled by a fusional mechanism and is classified as exophoria (X), intermittent exotropia (X(T)), or constant exotropia (XT) ( Fig. 80.1 ). X(T) is a disease that becomes manifest when fusional convergence of exophoria is intermittently lost. It differs from exophoria as manifest strabismus naturally occurs with decreased alertness or fatigue. Monocular eye closure may occur with exotropia. Near stereoacuity is mostly…

Special esotropias (acute comitant, myopia-associated, and microtropia)

Acute Acquired Concomitant Esotropia (Aace) Acute acquired concomitant esotropia (AACE) is not defined in the ICD10 or SNOMED CT and is described both as a relatively rare subtype of esotropia, distinct from paretic, incomitant strabismus and as the third most common form of strabismus. Rare or common depends somewhat on the definition but AACE certainly represents a diagnostic challenge. A typical presentation includes a sudden onset,…

Accommodative esotropias

Characteristics Accommodative esotropia describes an esotropia caused in whole, or in part, by the use of accommodation to clear vision in the presence of uncorrected hypermetropia. This association is widely attributed to Donders. Accommodative esotropia is one of the most common forms of childhood strabismus accounting for about a third of all strabismus patients in most studies in Europe and North America. The typical onset occurs…

Infantile esotropias

First, we must, I believe, firmly embed strabismus in the matrix where it belongs – an anomaly of neurodevelopment. John T Flynn Infantile esotropia (IET) is defined as a constant non-accommodative esotropia with onset before 6 months of age in a neurologically normal child ( Fig. 77.1 ). The angle of strabismus is generally >30 prism diopters (PD), there is usually mild or no amblyopia and…

The orthoptic assessment

Introduction Orthoptists provide valuable information to the ophthalmology team about a patient’s binocular status and the integrity of the oculomotor system. Their examination validates subjective symptoms, confirms clinical diagnoses, and directs timing and type of management of binocular vision disorders. They are also able to implement non-surgical management modalities for strabismus and amblyopia. This chapter outlines the components of the orthoptic assessment and highlights important aspects…

Anatomy of strabismus

Introduction Diagnosis and surgical correction of strabismus require anatomic knowledge of the extraocular muscles (EOMs) and their relationships with other orbital tissues. This chapter summarizes this anatomy and some surgical applications. Overview of the extraocular muscles The historically understood six EOMs are the effector arm of the ocular motor system. The EOMs are loosely organized as “yoked pairs” of agonists and antagonists, although exceptions to reciprocal…

Amblyopia: the basics, the questions, and the practical management

Introduction Amblyopia is the most common cause of visual impairment in children: it often persists into adulthood. The prevalence in childhood is estimated to be 1%−4%, depending on the population studied, with 2.4% as a best prevalence estimate. It is considered to be the leading cause of monocular vision loss in the 20–70 years of age group. The prevalence of visual loss from amblyopia in adults…

Binocular vision

Introduction Our two eyes view the world simultaneously from slightly different angles. The visual fields of the two eyes receive largely overlapping images on their two-dimensional retinal surfaces. The information contained in the separate and slightly dissimilar images arising in each eye is appreciated as a single image by the process of fusion, which blends sight from the two eyes to form a single percept. This…

Refractive surgery in children

Introduction Excimer laser refractive surgery for high refractive error associated with amblyopia has been performed for over two decades in children, with excellent visual acuity and refractive results and minimal complications. Intraocular refractive procedures have also been performed in children for high refractive errors that are outside the range for excimer laser procedures for over a decade, also with excellent visual and refractive outcomes and few…

Child maltreatment, abusive head trauma and the eye

Introduction Child protection and safeguarding is about protecting individual children identified as suffering or likely to suffer significant harm as a result of child maltreatment. Child maltreatment includes all types of abuse and neglect of a child under the age of 18 by a parent, caregiver or another person in a custodial role, that results in harm, potential for harm or threat of harm to a…

Accidental trauma in children

Accidental eye injuries account for 8%–14% of all injuries at children’s hospitals, and these accidental eye injuries led to visual deficit in 35%–49% of cases. This chapter will discuss the classification of eye injuries in children and review the acute, sub-acute, and long-term approach to eye injury with the purpose of serving as a quick reference guide to the on-call pediatric ophthalmologist. It is of paramount…

Neurofibromatosis type 1 and neurofibromatosis type 2

Acknowledgments Dr Avery is supported by The Children’s Tumor Foundation, The Gilbert Family Foundation, and grants EY022673 (National Eye Institute), CA236536 (National Cancer Institute), and CA180886-S1 (National Cancer Institute) of the National Institutes of Health, Bethesda, MD, and grant W81XWH1910376 (United States Department of Defense). Introduction Neurofibromatosis type 1 (NF1) is a very common genetic condition that most pediatric ophthalmologists will see frequently throughout their career.…

Phakomatoses

Definition The phakomatoses are a group of systemic disorders with neurological, ophthalmic and cutaneous manifestations resulting from disorders in cell regulation. No precise definition exists to determine if a condition should be included or not. A common feature is the development of multiorgan hamartomas. A hamartoma is composed of tissue elements normally present in the involved organ or site. The most important of these conditions are…

Mitochondrial disorders

For video accompanying this chapter see ExpertConsult.com. See inside cover for access details. The term mitochondrial disease (MD) comprises genetic disorders that lead to dysfunction of oxidative phosphorylation (OXPHOS) or to other disturbances of mitochondrial structure and function. The generation of ATP through OXPHOS is the most prominent role of mitochondria, but they also take part in processes such us modulation of calcium homeostasis, regulation of…

Leukemia

Introduction Acute lymphoblastic leukemia (ALL) is the most common cancer in childhood, accounting for more than 30% of all childhood cancers, with 400–500 new children diagnosed annually in the UK. Acute myeloid leukemia (AML) accounts for 5% of children's cancers, with 60–70 new cases in children in the UK each year. Combination chemotherapy for acute leukemia in children is highly effective; thus, serious ocular involvement is…

Neurometabolic disease and the eye

For supplementary materials see ExpertConsult.com. See inside cover for access details . Introduction Many neurometabolic diseases present in childhood with ophthalmic manifestations. In some conditions, the characteristic ophthalmic features may lead toward an early diagnosis. In others, the ophthalmic complications present later in the course of the disease but can have significant visual effects for the patient. Findings such as vertical or horizontal gaze palsy, characteristic…