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Alexandra Tészás, MD; Zoltán Pfund, MD; Éva Morava, MD, PhD; György Kosztolányi, MD, DSci; Erik Sistermans; Ron A. Wevers; Richard Kellermayer, MD, PhD

Arch Ophthalmol. 2006;124:1490-1492.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Presenile (including juvenile and congenital) cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Yet, a sizable percentage is of unknown cause. The disorder can occur isolated or more commonly as a part of a generalized systemic condition as well as a part of a syndrome. Genetic determination is likely, especially in the latter groups. Additional features besides the cataract should indicate the chance of a congenital disorder. Presenile cataract can be sporadic or familial. The mode of its inheritance can be dominant (principally in isolated forms) or recessive (typical in syndromic forms).¹

Herein, we describe 2 siblings with early-onset cataract and additional symptoms suggesting the diagnosis of a rare, treatable disorder, cerebrotendinous xanthomatosis (CTX) (Mendelian . . . [Full Text of this Article]

Report of Cases


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