Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

J AAPOS. 2021 Oct;25(5):269.e1-269.e6. doi: 10.1016/j.jaapos.2021.04.015.

PMID: 34600103

Huban Atilla, Turgay Coskun, Bulent Elibol, Sibel Kadayifcilar

Highlights: The aim of this study was to determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey.

Abstract

Purpose: In Turkey, researchers wanted to see how common cerebrotendinous xanthomatosis (CTX) was in patients with idiopathic bilateral juvenile cataract.

Methods: Patients with idiopathic bilateral juvenile cataract (aged ≥1 year at study entry) were identified from the records of 31 ophthalmology clinics in this multicenter, epidemiologic observational study. All potential CTX patients underwent the Mignarri suspicion index, blood samples were taken, and genetic testing for the CYP27A1 gene mutation was done. The patients' cholestanol levels were tested, and those with a level of ≥3.75 g/mL (threshold value) received genetic testing for CYP27A1 gene mutations.

Results: In 7 of 452 patients (1.55 percent) with bilateral juvenile cataract, CTX was found. In terms of cholestanol levels and genetic test findings, there was no significant difference between individuals with a Mignarri score of <100 (n = 8) and those with a score of ≥100 (n = 19). On the basis of increased cholestanol levels, 27 patients underwent genetic testing. CYP27A1 gene alterations were found in 7 of them (26 percent). Five (71%) of the seven individuals with genetically confirmed CTX were in the higher Mignarri score (≥100) group.

Conclusions: CTX is a treatable disease, and catching it early is vital for avoiding irreversible neurological consequences. Screening for suspected CTX cases by utilizing the Mignarri suspicion index and testing cholestanol blood levels can be beneficial.

Keywords: CTX, cerebrotendinous xanthomatosis, juvenile cataract, ophthalmology