Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.

Ophthalmology - 1 May 2013

Khan Arif O, Aldahmesh Mohammed A, Mohamed Jawaher Y, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Cerebrotendinous xanthomatosis is a progressive neurodegenerative storage disease caused by recessive CYP27A1 mutations and is characterized by abnormal deposition of cholestanol and cholesterol in multiple tissues, including the lens and brain. Oral chenodeoxycholic acid is preventive a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Crystallin B Chain
Share to Child
Share to Cholestanetriol 26-Monooxygenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Corneal Opacity

Share to Visual Acuity

Share to Xanthomatosis, Cerebrotendinous

Share to Young Adult

Source

Identifiers

PMID: 23375591
DOI: 10.1016/j.ophtha.2012.10.032

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23375591-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.PMID 23375591Read ↗

Prospective Cholestanol Screening of Cerebrotendinous Xanthomatosis Among Patients With Juvenile-onset Unexplained Bilateral CataractsSemantic proximity Read ↗

Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant.Semantic proximity Read ↗

Genetics of Cerebrotendinous Xanthomatosis.Semantic proximity Read ↗

Update on cerebrotendinous xanthomatosis.Semantic proximity Read ↗

Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.Semantic proximity Read ↗

Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts.Semantic proximity Read ↗

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.Semantic proximity Read ↗

Juvenile-Onset Cerebrotendinous Xanthomatosis with Novel Compound Heterozygous CYP27A1 Mutations: Case Series and Literature Review.Semantic proximity Read ↗

Congenital cataract: a guide to genetic and clinical managementSemantic proximity Read ↗

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.Semantic proximity Read ↗

Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.Semantic proximity Read ↗

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.