Juvenile cataract is one of the most common, early indicator of cerebrotendinous xanthomatosis
Analyzing factors such as family history, systemic findings, and cataract morphology in children with cataracts can aid in the prompt identification of cerebrotendinous xanthomatosis (CTX), according to a recent study.
CTX is characterized by the excessive accumulation of cholestanol and cholesterol in various tissues, including the brain, tendons, and the crystalline lens. Among the early and most common indicators of CTX is juvenile cataract, making it crucial to recognize the associated symptoms for an accurate diagnosis.
In this retrospective noncomparative case series, 4 siblings displaying symptoms of CTX and their asymptomatic parents underwent detailed eye examinations and medical histories. Systemic findings, biochemical tests, and mutation analysis were used to identify the presence of CTX.
The results of the study revealed distinct patterns of cataracts in the affected siblings. One sister exhibited bilateral fleck-like opacities and posterior subcapsular cataract, while the twin sisters presented with anterior star-shaped sutural cataracts and posterior subcapsular cataracts in addition to bilateral fleck-like opacities. The fourth sibling, a 20-year-old brother who tragically passed away in a traffic accident, had bilateral juvenile cataracts of unknown morphology.
Notably, none of the cases reported a history of childhood diarrhea, which is often associated with CTX.
Furthermore, three of the siblings displayed neurological symptoms, such as difficulties in walking and slowed speech. In contrast, no significant ocular or systemic findings were observed in the asymptomatic parents. The presence of consanguinity among the parents raised additional concern, as it is a potential risk factor for inherited genetic disorders.
All symptomatic cases were found to carry a homozygous mutation, specifically the c.1263 + 1 G>A (intron 7) mutation, in the CYP27A1 gene. The identification of this genetic alteration further confirmed the diagnosis of CTX in the siblings.
Reference
Öncel Acır N, Taskiran Kandeger B. Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history. Ophthalmic Genet. 2023;1-5. doi: 10.1080/13816810.2023.2197492. Epub ahead of print. PMID: 37017268.
