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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…

Current treatment of retinopathy of prematurity

For videos accompanying this chapter see ExpertConsult.com . See inside cover for access details. Introduction In retinopathy of prematurity (ROP), physiologic retinal vascular development is delayed and damaged, resulting in avascularity and ischemia of the peripheral retina. This may result in increased production of growth factors, including vascular endothelial growth factor (VEGF), leading to vasoproliferation at the junction between avascular and vascular retina (stage 3 ROP)…

Retinopathy of prematurity: pathophysiology and screening

Introduction Retinopathy of prematurity (ROP), which was first described as retrolental fibroplasia in 1942, is a vasoproliferative disease of extremely preterm infants and is a leading cause of preventable childhood blindness worldwide. Low gestational age (GA) and low birth weight (BW) contribute to ROP development, and evidence supports oxygen-induced toxic effects on immature retinal vasculature. Improved oxygen supplementation protocols in preterm neonates have resulted in a…

Retinoblastoma

Epidemiology Retinoblastoma represents 3% of all pediatric cancers and is with an incidence of 1:15,000 to 20,000 live births per year not only the most frequent intraocular malignancy in children but also credited as the most frequent eye cancer in general. There is no sex or racial predilection. The disease is unilateral in 61%–75% of the cases and bilateral in 25%–39%. Mean age at diagnosis depends…

Vitreous

Introduction The vitreous, a transparent gelatinous structure that fills the posterior four-fifths of the globe, is firmly attached to the pars plana and loosely to the retina and optic nerve posteriorly. In childhood there is a firm attachment to the lens. The development of the vitreous body and zonule can be divided into three stages: 1. The primary vitreous is formed during the first month of…

Albinism

Introduction Albinism, derived from the Latin albus , meaning white, is an inherited disorder of melanin biosynthesis, which results in absent or reduced melanin production and causes a set of phenotypically heterogeneous conditions characterized by pigment deficiency. Melanogenesis requires complex interactions of enzymes and proteins within melanosomes to produce eumelanin (brown or black pigment) or pheomelanin (yellow or red pigment). This is coded for by a…

Uveitis

Introduction This chapter will discuss non-infectious childhood ocular inflammatory disease (OID), including uveitis and the vasculitides. Infectious uveitis will be discussed only as a differential diagnosis. OIDs other than uveitis will be discussed where there is a common cause. Most conditions discussed have a peak incidence in childhood, especially monogenic disorders, but some common sporadic and polygenic conditions such as HLA-B27-related diseases, Behçet’s disease, sarcoid, and…

Aniridia syndrome

Introduction Aniridia syndrome (OMIM 106210) is a rare multisystem disorder with a prevalence of 1:40,000 to 1:72,000. It is inherited in an autosomal dominant manner in about two-thirds of cases, with the remainder being sporadic. The condition is caused by heterozygous loss-of-function mutations or deletions in the PAX6 gene or in nearby regulatory elements that control PAX6 expression. Patients are often diagnosed in early infancy because…

Pediatric iris disorders

Introduction Disorders of the iris are common in childhood. Several genetic and environmental factors may result in developmental disorders of the iris including colobomas, aniridia, and albinism. The iris may be affected by systemic disorders such as neurofibromatosis type 1 (NF1), Down syndrome, CHARGE syndrome and albinism. Newly recognized associations, e.g. ACTA2 mutations, are discussed. Acquired disorders affecting the iris such as juvenile xanthogranuloma, tumors (melanoma,…

Childhood glaucoma

For video accompanying this chapter see ExpertConsult.com. See inside cover for access details. Introduction Glaucoma in children is a rare, potentially blinding condition. Characterized by elevated intraocular pressure-related damage to the eye, it is caused by a diverse group of conditions. Clinical presentation can vary; unlike glaucoma in the adult and depending on the age of onset, elevated intraocular pressure (IOP) can affect the whole eye…

Childhood cataracts

For videos accompanying this chapter see ExpertConsult.com . See inside cover for access details. Cataracts, which are opacities of the crystalline lens, are an important problem in children worldwide. The incidence varies, but in the UK the adjusted cumulative incidence at age 1 year is 2.49/10,000, increasing to 3.46/10,000 by age 15 years. Bilateral cataracts are more common than unilateral. Detection Because of visual deprivation with…

The lens

For video accompanying this chapter see ExpertConsult.com. See inside cover for access details. Anatomy The crystalline lens, like the cornea, has two principal optical properties: transparency and refractive power. Its structure reflects this. It is a transparent, biconvex, avascular mass of uniquely differentiated epithelial cells. It lies immediately posterior to the iris and is held in position behind the pupil by zonular fibers from the ciliary…

Corneal surgery

For video s accompanying this chapter see ExpertConsult.com. See inside cover for access details. Introduction Corneal surgery in children is challenging and there is reluctance to perform these procedures due to poor outcomes. However, modern imaging modalities and surgical techniques allow for better patient selection and outcomes. Previously, almost all transplants were full-thickness penetrating keratoplasty (PKP). Now lamellar surgery allows for selective replacement of only the…

Corneal abnormalities in childhood

Abnormalities of the cornea may be classed as an abnormality of shape or opacity. The etiology determines the management of any associated visual loss or amblyopia. Abnormal Corneal Shape Keratoconus Keratoconus is the most common corneal dystrophy, affecting about 1 in 375 of the general population in North Europe, although modern corneal imaging suggests that the prevalence may be as high as 1 in 45 in…

Anterior segment developmental anomalies

Introduction Anterior segment developmental anomalies (ASDA) are rare but potentially visually devastating. It is important for the pediatric ophthalmologist to know about certain important features when faced with a child with ASDA. It is worth remembering that if there is a developmental anomaly in the eye, there could be one in another organ system. A review by a pediatrician is often fruitful. Specifically, it is important…

Conjunctival tumors

For video accompanying this chapter see ExpertConsult.com. See inside cover for access details. Although rare, several conjunctival tumors can occur in the pediatric population. These tumors range from benign lesions, including the most common, conjunctival nevi, to malignant lesions such as melanoma or Kaposi sarcoma. Fortunately, most pediatric conjunctival tumors are benign. However, even benign lesions can lead to ocular morbidity and loss of vision; therefore,…

Conjunctiva and subconjunctival tissue

For video accompanying this chapter see ExpertConsult.com. See inside cover for access details. Anatomy The conjunctiva is a thin, translucent, vascular mucous membrane that lines the inner surface of the eyelids and the anterior surface of the eyeball as far as the limbus. This tissue is arranged in a sac-like fashion and is composed of a palpebral region (covering the inner aspects of the lids), a…

Inflammatory disorders

Introduction Non-infectious orbital inflammation in childhood is uncommon. As in adults, the commonest cause is thyroid-associated orbitopathy (TAO). The remainder can be divided into: (1) specific forms of inflammation, which include granulomatosis with polyangiitis (GPA, previously called Wegener granulomatosis), sarcoidosis, and the more recently characterized entity of immunoglobulin (Ig) G4-related ophthalmic disease, and (2) non-specific orbital inflammation or idiopathic orbital inflammation (IOI). Infective orbital inflammation is…

Cystic lesions and ectopias

Cystic Lesions A variety of cystic lesions may occur in and around children's orbits. By far the commonest is the dermoid cyst, but other cystic choristomas may occur, including those lined by conjunctival and respiratory epithelium. Other cystic lesions include microphthalmos with cyst, congenital cystic eyeball, lacrimal ductal cyst, meningocele and meningoencephalocele, sinus mucocele, and teratoma. In some parts of the world, parasitic cysts involving organisms…