Prevalence of Cerebrotendinous Xanthomatosis (CTX) Among Patients Diagnosed With Early-Onset Idiopathic Bilateral Cataracts: Final Analysis

Sharon F Freedman; Monte A Del Monte; Ulysses Diva; Sean P Donahue; Arlene V Drack; Rana Dutta; Simon S M Fung; Michael Imperiale; Catherine O Jordan; Phoebe D Lenhart; Maria E Lim; Emily A McCourt; Bharti R Nihalani; Tarlan Sabahi; Erin D Stahl; Virginia A Miraldi Utz; M Edward Wilson; Kimberly G Yen; Deborah K Vanderveen

doi:10.1016/j.jaapos.2023.04.013

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Prevalence of Cerebrotendinous Xanthomatosis (CTX) Among Patients Diagnosed With Early-Onset Idiopathic Bilateral Cataracts: Final Analysis

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Prevalence of Cerebrotendinous Xanthomatosis (CTX) Among Patients Diagnosed With Early-Onset Idiopathic Bilateral Cataracts: Final Analysis

Sharon F Freedman, Monte A Del Monte, Ulysses Diva, Sean P Donahue, Arlene V Drack, Rana Dutta, Simon S M Fung, Michael Imperiale, Catherine O Jordan, Phoebe D Lenhart, …

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, Vol.27(4), pp.208-211

08/2023

DOI: 10.1016/j.jaapos.2023.04.013

PMID: 37321343

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Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene involved in bile acid synthesis. Impaired function in this gene leads to accumulation of plasma cholestanol (PC) in various tissues, often in early childhood, resulting in such clinical signs as infantile diarrhea, early-onset bilateral cataracts, and neurological deterioration. The current study aimed to identify cases of CTX in a population of patients with a greater CTX prevalence than the general population to facilitate early diagnosis. Patients diagnosed with early-onset, apparently idiopathic, bilateral cataracts between the ages of 2 and 21 years were enrolled. Genetic testing of patients with elevated PC and urinary bile alcohol (UBA) levels was used to confirm CTX diagnosis and determine CTX prevalence. Of 426 patients who completed the study, 26 met genetic testing criteria (PC ≥ 0.4 mg/dL and positive UBA test), and 4 were confirmed to have CTX. Prevalence was found to be 0.9% in enrolled patients, and 15.4% in patients who met the criteria for genetic testing.

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Title: Subtitle: Prevalence of Cerebrotendinous Xanthomatosis (CTX) Among Patients Diagnosed With Early-Onset Idiopathic Bilateral Cataracts: Final Analysis
Creators: Sharon F Freedman
Monte A Del Monte
Ulysses Diva
Sean P Donahue
Arlene V Drack
Rana Dutta
Simon S M Fung
Michael Imperiale
Catherine O Jordan
Phoebe D Lenhart
Maria E Lim
Emily A McCourt
Bharti R Nihalani
Tarlan Sabahi
Erin D Stahl
Virginia A Miraldi Utz
M Edward Wilson
Kimberly G Yen
Deborah K Vanderveen
Resource Type: Journal article
Publication Details: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, Vol.27(4), pp.208-211
DOI: 10.1016/j.jaapos.2023.04.013
PMID: 37321343
NLM abbreviation: J AAPOS
eISSN: 1528-3933
ISSN: 1091-8531
eISSN: 1528-3933
Language: English
Electronic publication date: 06/13/2023
Date published: 08/2023
Academic Unit: Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
Record Identifier: 9984436278202771

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