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Helicoid Peripapillary Chorioretinal Degeneration in Abetalipoproteinemia
Arch Ophthalmol. 1998;116:250-251.
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Abetalipoproteinemia is a rare autosomal recessive disorder characterized by the absence of apolipoprotein B.1 It is caused by mutations of the microsomal triglyceride-transfer protein gene.2 Ocular manifestations include retinitis pigmentosa–like changes, nystagmus, ophthalmoplegia, ptosis, cataracts, anisocoria, and angioid streaks.3 Helicoid peripapillary chorioretinal degeneration (HPCD) is characterized by chorioretinal atrophy that radiates from the optic disc as winglike extensions.4 No systemic disease has been associated with HPCD. We report a case of HPCD associated with abetalipoproteinemia.
Report of a Case
A 24-year-old woman had been diagnosed with abetalipoproteinemia at age 2 years. The diagnosis was based on peripheral blood acanthocytosis, low serum cholesterol levels, absence of serum lipoprotein, and characteristic lipid deposits in mucosal cells on small bowel biopsy. She was treated with vitamin E injection and oral vitamins A, D, and K. Results of initial ocular examinations were within normal limits.
At age 18 years, the patient voluntarily discontinued treatment with vitamin supplementation; afterward . . . [Full Text of this Article]
Comment
Agnes M. F. Wong, MD;
Elise Héon, MD, FRCSC
Toronto, Ontario
Corresponding author: Elise Héon MD, FRCSC, Eye Research Institute of Canada, 399 Bathurst St, Room 6-412, Toronto, Ontario, Canada M5T 2S8 (e-mail: eheon@playfair.utoronto.on.ca).
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Hum Mol Genet 2004;13:975-981.
ABSTRACT
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