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Dyslexia

For supplementary materials see ExpertConsult.com. See inside cover for access details. Introduction Pediatric ophthalmologists are often asked to evaluate children who are experiencing difficulties learning to read. Difficulty learning to read occurs in nearly 65% of students in the United States. A number of different factors can cause problems for early readers, including deficits in spoken language skills, lack of general knowledge, inadequate instruction, insufficient reading…

Visual conversion disorders and fabricated or exaggerated symptoms in children

Features and definitions of visual conversion disorder (unconscious disorders) Many terms are useful ( Table 63.1 ) but none perfectly encapsulates what we refer to as visual conversion disorder (VCD). Conversion disorder implies a particular unconscious process wherein vision is apparently and inexplicably lost, outside of the patient’s awareness. In this chapter we will cover a variety of types of unexplained vision loss, including conversion disorder…

Common issues arising in children with visual impairment

Introduction Visual impairment (VI), defined as a reduction of visual acuity and/or visual field loss, is diagnosed from the combination of history, physical examination, electrodiagnostic testing, genetic evaluation, and neuroimaging. Following counseling of the family regarding the diagnosis, the professional needs to provide support for vision habilitation. Over the past decades, many studies have focused on functional vision issues, which would broaden the definition of visual…

Delivering bad news

Introduction Pediatric ophthalmologists are frequently faced with the challenge of discussing varying degrees of vision loss. While sometimes decreased vision in children or diplopia in adults may be reversible, at other times it is permanent. Growing evidence indicates that quality verbal communication between physicians and patients influences patients’ future therapy and contributes significantly to achieving better health outcomes. Therefore, knowing how to deliver bad news effectively…

The brain and cerebral visual impairment

Introduction Many congenital and acquired disorders of the central nervous system can affect a child’s vision. Several of these directly affect vital visual structures and pathways resulting in varying disability. In many parts of the world, the prevalence of visual impairment in children from damage and disorders of the brain is equal or greater than that caused by ocular disease (see Chapter 1 ). This condition,…

Raised intracranial pressure

Introduction Raised intracranial pressure (RICP) and its potential for causing permanent vision loss requires close monitoring by the eye physician. Pseudotumor cerebri syndrome (PTCS, also known as idiopathic intracranial hypertension), brain tumors, structural brain abnormalities, and acquired infectious/inflammatory conditions are the most frequent causes of RICP in children seen in the ambulatory setting. Understanding the proper ophthalmologic assessment, monitoring, and treatment is essential for optimizing visual…

Headache in children

Introduction Headache is a common symptom in children. Recent population-based studies have found that headaches generally increased from childhood to adolescence and there is an estimated overall mean prevalence of headache in children and adolescents of about 50%–60%. Accompanying eye or vision signs and symptoms may lead these children to the ophthalmologist. Since serious neurologic morbidity and mortality can be heralded by head pain, it is…

The optic chiasm

Introduction The chiasm is so named because it is shaped like the Greek letter chi. Over 2 million nerve fibers pass through it: most are visual, but some non-visual fibers project from the optic chiasm to hypothalamic nuclei, forming the retinohypothalamic tract subserving circadian rhythms. The ratio of crossed to uncrossed fibers in the human chiasm is about 53 : 47. Evolutionary Considerations The chiasm provides the major…

Demyelinating, inflammatory, and infectious optic neuropathies

Pediatric optic neuritis Optic neuritis is an inflammatory or demyelinating process involving the optic nerve. The presentation of optic neuritis is characterized by painful, acute/subacute vision loss with corroborating evidence of an optic neuropathy on examination that may include a relative afferent pupillary defect, visual field dysfunction, dyschromatopsia, and optic nerve edema. Optic neuritis may occur as a clinically isolated syndrome or in association with neurologic/systemic…

Other acquired optic disc abnormalities in children

Introduction Acquired optic disc abnormalities in children can range from benign incidental findings to harbingers of various systemic diseases. It is important for ophthalmologists to understand the various findings that one might detect when examining the optic disc of a child, and to recognize when a systemic evaluation is required. Acquired optic disc abnormalities discussed in this chapter include pseudo-papilledema and optic disc drusen, intrinsic optic…

Hereditary optic neuropathies

The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditary, based on familial expression or genetic analysis. Clinical variability, both within and among families with the same disease, often makes recognition and classification difficult. Inherited optic neuropathies are often classified by pattern of transmission, most commonly autosomal dominant, autosomal recessive, and maternal (via mitochondrial DNA…

Congenital anomalies of the optic discs

Introduction Congenital optic disc anomalies frequently present to the pediatric ophthalmologist. These disorders, when bilateral, are important in the differential diagnosis of infants who are referred for poor vision and nystagmus. Unilateral or less severely affected patients may be diagnosed later in life when sensory strabismus or other ocular complications develop. Systemic associations, particularly neuroanatomic defects and endocrine abnormalities, are frequent in certain congenital optic disc…

The pupil

The anatomy ( Fig. 52.1 ), physiology, and pathophysiology of the pupillary pathways are important to the pediatric ophthalmologist, but they are dealt with so excellently elsewhere that only aspects relevant to children will be discussed here. Open full size image Fig. 52.1 Schematic representation of the efferent and afferent pathways involved in pupillary reactions. E.W. nucleus, Edinger–Westphal nucleus; R.N., red nucleus. Development (see Chapter 2…

Retinal detachment in childhood

Introduction Rhegmatogenous retinal detachment (RRD) is uncommon in childhood. The prognosis is often poor, because children present late, sometimes only when the second eye loses vision when its retina also detaches, but also because of the aggressive proliferative vitreoretinopathy (PVR) which often accompanies childhood retinal detachment. The majority of cases of RRD in childhood are associated with inherited vitreoretinopathies, developmental abnormalities or trauma. Rhegmatogenous retinal detachment…

Acquired and other retinal disorders (including juvenile X-linked retinoschisis)

Diabetic retinopathy Diabetic retinopathy ( Fig. 50.1 ) is uncommon in children. It is strongly correlated with the duration of diabetes mellitus and the overall long-term metabolic control (mean glycosylated hemoglobin, HbA1c). Apart from that, a higher onset age of diabetes type 1 seems to be correlated with an increased incidence of diabetic macular edema. With improved diabetes care, the prevalence of diabetic retinopathy has decreased,…

Retinal flecks, dots, and crystals

Introduction A number of conditions, inherited or acquired, can present with multiple yellow-white retinal lesions. These lesions may look like flecks, dots/drusen, or crystals and can be associated with a variable degree of retinal dysfunction. This chapter reviews the differential diagnosis of yellow-white spots in the pediatric retina; some disorders predominantly seen in adults (but also encountered in children) are included. Clinical evaluation It is important…

Congenital pigmentary and vascular abnormalities of the retina

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) Flat or slightly raised, round or oval, pigmented lesions of the retinal pigment epithelium (RPE). Located predominantly at the mid-periphery; less commonly at the posterior pole ( Fig. 48.1 ). Pigmented and non-pigmented halo surround lesions. Multiple intralesional depigmented lacunae corresponding to areas of RPE loss. Depigmented CHRPEs are less common. Intensely pigmented RPE cells that are 1.5–2…

Inherited macular dystrophies

Introduction The inherited macular dystrophies are characterized by bilateral central visual loss and symmetrical macular abnormalities. Most present in the first two decades of life with a wide range of clinical, electrophysiological, psychophysical, and histological findings. Inheritance may be autosomal dominant, autosomal recessive, X-linked recessive or associated with disease-causing variants in mitochondrial DNA. There is great genetic heterogeneity even amongst these subtypes. The molecular basis of…

Retinal dystrophies with systemic associations and the retinal ciliopathies

Introduction Children affected by retinal degeneration associated with extraocular manifestations define the inherited systemic retinitis pigmentosa (RP) syndromes (retinal dystrophies related to inborn errors of metabolism are covered in Chapter 65 ) ( Tables 46.1 and 46.2 ). The gene or the group of genes involved in the syndrome belong to a specific biologic network whose mutations lead to retinal degeneration associated with manifestations in other…

Inherited retinal disorders

Introduction The inherited retinal disorders are clinically and genetically heterogeneous and many become symptomatic in childhood. They are usually an isolated abnormality in an otherwise healthy child but, in syndromic form, they may be associated with systemic abnormalities (see Chapter 46 ). Recent advances in genetic sequencing technologies, so called next-generation sequencing (NGS), have greatly improved molecular diagnosis (see Chapter 10 ) and many genes causing…