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

Atilla, Hüban; Coşkun, Turgay; Elibol, Bülent; Kadayıfçılar, Sibel; Altınel, Serdar

doi:10.1016/j.jaapos.2021.04.015

Cited by 8 publications

(3 citation statements)

References 26 publications

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“…A genetic epidemiological study (ExAC) found different incidence rates on different continents [5]. In a multicenter study conducted in Turkey, CTX was diagnosed in 7 of 452 patients (1.55%) with bilateral juvenile cataracts [6]. In addition to the suspicion of the disease with MI, the detection of mutations in the CYP27A1 gene confirms the diagnosis of CTX.…”

Section: Discussionmentioning

confidence: 97%

Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review

Eliaçık

Çil

2023

Egypt J Neurol Psychiatry Neurosurg

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Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation of the disease is quite wide. We planned to briefly review the literature with this case diagnosed as a CTX. Case A 50-year-old male patient was admitted to the neurology outpatient clinic complaining of progressive worsening of his walking, and swelling in his legs. Mild mental retardation was detected in our patient. In addition to the visual impairment that would be explained by cataracts, he had xanthomas in both lower extremities. Signs related to bilateral cataract surgery and intraocular lens were detected during an eye examination. There were no abnormal findings in electroencephalography, electroneuromyography, and brain magnetic resonance imaging of the patient, whom we learned that her visual impairment started in childhood. The Mignarri Suscipion Index index was calculated as 275. A genetic examination was requested and the CYP27A1 gene was p.A216P (c.The mutation 646G>C) (CM044609) was detected as homozygous. Conclusion Due to the low awareness of CTX and the variability of its clinical findings, its diagnosis may be delayed for years, as in our patient. When diagnosed, most patients may have severe, often irreversible neurological damage. With the early recognition of the CTX and the start of treatment, patients can have a chance to quality life.

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Section: Discussionmentioning

confidence: 97%

Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review

Eliaçık

Çil

2023

Egypt J Neurol Psychiatry Neurosurg

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“…A previous study analyzing plasma cholestanol levels retrospectively in patients with juvenile-onset bilateral cataracts selected from records, reported a prevalence of 1.8% (3/170 patients) [ 5 ], and other epidemiological studies in patients with childhood-onset bilateral cataracts have shown a prevalence of 2–3.7% [ 6 – 8 ]. In these studies, cholestanol was analyzed years after cataract diagnosis, once the full CTX phenotype is present and cholestanol levels may not be similar to those at cataract diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…7 Ophtalmologie Rive Gauche Clinic, Toulouse, France. 8 Department of Biochemistry and Molecular Biology, LBMMS, Lyon University Hospital, Lyon, France. 9 • support for research data, including large and complex data types • gold Open Access which fosters wider collaboration and increased citations maximum visibility for your research: over 100M website views per year…”

Section: Author Contributionsmentioning

confidence: 99%

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

Fernández‐Eulate

Martin

Dureau

et al. 2022

Orphanet J Rare Dis

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Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in the disease, frequently occurring before the onset of neurological manifestations. While early treatment with chenodeoxycholic acid can prevent the onset of neurological impairment, poor awareness of CTX accounts for a markedly delayed diagnosis. The objective of this study was to evaluate the utility of plasma cholestanol analysis at the moment of cataract diagnosis and before the onset of neurological impairment in CTX. Methods Multicenter prospective cohort study of patients with juvenile-onset unexplained bilateral cataracts recruited from seven French ophthalmology departments. Plasma cholestanol analysis was performed at diagnosis from January 2018 to January 2020. CYP27A1 genetic testing was performed at the ophthalmologist’s discretion. Cholestanol levels were compared with those of a similar population of patients without cataracts (control cohort). Results 30 patients were finally recruited, with a mean age at cataract diagnosis of 7.1 years (± 4.8 SD, range 1–19 years). One patient had a very high cholestanol level (68 μmol/L, reference < 10) and carried two pathogenic heterozygous mutations in CYP27A1 confirming CTX. This patient was a 19-year-old female, reporting chronic diarrhea only in childhood, and diagnosed with bilateral posterior cataracts with cortical fleck-like opacities. Therefore, the incidence of CTX in our cohort of patients was 3.3%. Five further patients (5/29; 17.2%) had moderate elevations of cholestanol level (between 10.3 and 16.5 μmol/L), compared to 12/286 (4.2%) in the control cohort (p = 0.014) after adjustment for age. Conclusion Our study argue for the relevance of plasma cholestanol CTX screening in all patients with juvenile-onset unexplained cataracts, even without other CTX identified manifestations. Whether moderate elevations of plasma cholestanol unrelated to CTX may be a risk factor for bilateral cataracts occurrence needs further examination.

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Ophthalmic Genetics in Turkiye

Tuncay

2024

Essentials in Ophthalmology

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

Cited by 8 publications

References 26 publications

Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review

Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

Ophthalmic Genetics in Turkiye

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