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…
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…
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…
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)…
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…
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…
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…
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…
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…