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…
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…
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…
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…
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…
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…
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…
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…
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…
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…