Ocular manifestations of the neurocutaneous syndromes.
Ocular involvement occurs frequently in the disorders known as neurocutaneous syndromes or phakomatoses. Recognition of characteristic eye lesions in the context of related skin and systemic abnormalities may be crucial to making the diagnosis of a neurocutaneous syndrome. Ocular disease in these conditions may be the cause of serious morbidity, leading to blindness or disfigurement, but successful treatment is often possible. All clinicians involved in the care of patients with neurocutaneous syndromes should have some familiarity with their ophthalmologic aspects. This review deals with ocular manifestations of neurofibromatosis, tuberous sclerosis, Sturge-Weber syndrome, von Hippel-Lindau disease, ataxia telangiectasia, and Bloch-Sulzberger syndrome. Clinical signs and symptoms, differential diagnosis, and natural history are considered in detail, with brief discussion of pathophysiology and management. No specialized knowledge of eye disease in general is presumed.
D001260:Ataxia Telangiectasia / Q000150:complications / Q000473:pathology; D005123:Eye / Q000473:pathology*; D005128:Eye Diseases / Q000209:etiology* / Q000473:pathology; D006801:Humans; D009422:Nervous System Diseases / Q000150:complications* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000150:complications / Q000473:pathology; D010859:Pigmentation Disorders / Q000150:complications / Q000473:pathology; D012871:Skin Diseases / Q000150:complications* / Q000473:pathology; D013341:Sturge-Weber Syndrome / Q000150:complications / Q000473:pathology; D013577:Syndrome; D014402:Tuberous Sclerosis / Q000150:complications / Q000473:pathology; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000473:pathology