Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis

Freedman, SF; Del Monte, MA; Diva, U; Donahue, SP; Drack, AV; Dutta, R; Fung, SSM; Imperiale, M; Jordan, CO; Lenhart, PD; Lim, ME; Mccourt, EA; Nihalani, BR; Sabahi, T; Stahl, ED; Utz, VAM; Wilson, MEW; Yen, KG; Vanderveen, DK

Freedman, SF (通讯作者),Duke Eye Ctr, Pediat Ophthalmol & Strabismus Div, 2351 Erwin Rd, Durham, NC 27710 USA.

JOURNAL OF AAPOS, 2023; 27 (4): 208

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal reces-sive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene inv......

Full Text Link