title: Ocular manifestations of genetic skin disorders.
abstract: Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue.
authors.affiliation: Section of Pediatric Dermatology, Children's Hospital of Philadelphia; Departments of Pediatrics and Dermatology, Perelman School of Medicine at the University of Pennsylvania, 3550 Market St, Second floor, Philadelphia, PA, 19104. Electronic address: jenm@email.chop.edu.
authors.forename: Melinda
authors.initials: M
authors.lastname: Jen
authors.affiliation: The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.
authors.forename: Sudha
authors.initials: S
authors.lastname: Nallasamy
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000150:complications*; D001768:Blister / Q000150:complications; D001816:Bloom Syndrome / Q000150:complications; D002806:Chondrodysplasia Punctata / Q000150:complications; D003057:Cockayne Syndrome / Q000150:complications; D019871:Dyskeratosis Congenita / Q000150:complications; D004535:Ehlers-Danlos Syndrome / Q000150:complications; D004820:Epidermolysis Bullosa / Q000150:complications; D005128:Eye Diseases / Q000209:etiology* / Q000628:therapy*; D005489:Focal Dermal Hypoplasia / Q000150:complications; D006712:Homocystinuria / Q000150:complications; D006801:Humans; D007057:Ichthyosis / Q000150:complications; D007634:Keratitis / Q000150:complications; D007645:Keratoderma, Palmoplantar / Q000150:complications; D008382:Marfan Syndrome / Q000150:complications; D020752:Neurocutaneous Syndromes / Q000150:complications; D009506:Nevus / Q000150:complications; D010013:Osteogenesis Imperfecta / Q000150:complications; D010510:Periodontal Diseases / Q000150:complications; D010787:Photosensitivity Disorders / Q000150:complications; D011561:Pseudoxanthoma Elasticum / Q000150:complications; D012035:Refsum Disease / Q000150:complications; D011038:Rothmund-Thomson Syndrome / Q000150:complications; D016111:Sjogren-Larsson Syndrome / Q000150:complications; D012873:Skin Diseases, Genetic / Q000150:complications*; D012878:Skin Neoplasms / Q000150:complications*; D054463:Trichothiodystrophy Syndromes / Q000150:complications; D020176:Tyrosinemias / Q000150:complications; D014983:Xeroderma Pigmentosum / Q000150:complications