Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
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Case Reports
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen.
Adams-Oliver syndrome (AOS) (MIM 100300) was first described in 1945 as a condition of terminal transverse limb defects and aplasia cutis congenita. Since then, its clinical features have been found to be highly variable and include cardiac defects, abdominal wall defects, vascular malformations, brain abnormalities, and ocular anomalies. We report the case of a 3-year-old girl with AOS who was also found to have bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen. To the best of our knowledge, this is the first case of bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen to be reported in association with the AOS.
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Case Reports
Infantile orbital cellulitis secondary to community-associated methicillin-resistant Staphylococcus aureus.
Community-associated methicillin-resistant Staphylococcus aureus (MRSA) is increasingly recognized as a cause of invasive disease in children. Orbital cellulitis typically occurs in older children, but it can occasionally affect infants and neonates. We report 2 infants with sepsis and orbital cellulitis caused by community-associated MRSA and review the relevant literature.
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To determine the efficacy of a home-based computer orthoptic program to treat symptomatic convergence insufficiency. ⋯ In our study, home-based computer orthoptic exercises reduced symptoms and improved NPC and fusional amplitudes. The computer orthoptic program is an effective option for treating symptomatic convergence insufficiency.
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Blau syndrome (MIM 186580) is a rare autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21. We report the case of a 2.5-year-old girl who presented for ophthalmic examination in the setting of rash and synovitis. ⋯ Subsequent genetic testing confirmed the diagnosis of Blau syndrome. Despite immunosuppression, at almost 7 years of age, she continues to have persistent panuveitis with vision of 20/20.
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Unilateral optic nerve aplasia is a rare, nonhereditary defect associated with anterior chamber malformations and other ocular malformations. We report the case of an 8½-week-old boy with unilateral optic nerve aplasia who was diagnosed with glaucoma on presentation with corneal edema and an intraocular pressure of 36 mm Hg. ⋯ Intraocular pressure remained well-controlled with 7½ months of follow-up. To our knowledge, this is the first documented case of optic nerve aplasia associated with glaucoma at presentation.