cataract/diarrhea

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Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat.

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Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic acid normalizes cholestanol concentrations and abrogates progression of the disease. We present 4 patients with cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease.

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Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.

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Cataract in a preterm newborn: a possible side effect of linezolid therapy.

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Cataract may cause visual loss especially in the newborn period if early and urgent intervention is not managed. Approximately 1/3 of cases are congenital, 1/3 are related with systemic diseases and the remaining 1/3 are idiopathic or sporadic. The prevalence of congenital cataract in developed

Case-control studies and risk factors for cataract in two population studies in Nigeria.

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OBJECTIVE The aim of this study was to determine and investigate the risks associated with cataract in South Western and North Central Nigeria. METHODS A hospital-based, case-control study was conducted in Lagos (Lagos group), South Western Nigeria, and Kano (Kano group), North Central Nigeria. In

Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.

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OBJECTIVE A 15-year-old boy with developmental delay presented to the pediatric ophthalmology clinic with bilateral pulverulent cataracts. The family was examined for developmental delay, cataracts and systemic problems. METHODS The parents were consanguineous and originally from Bangladesh. All the

Prevalence of feline cataract: results of a cross-sectional study of 2000 normal animals, 50 cats with diabetes and one hundred cats following dehydrational crises.

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OBJECTIVE In this study 2000 normal cats, 50 cats with diabetes and 100 cats with a history of dehydrational crises were examined ophthalmoscopically to determine presence of cataract. METHODS The cats examined were predominantly from veterinary hospital populations but also from re-homing

Bilateral total cataract as the presenting feature of celiac disease.

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An 18-year-old male presented to the ophthalmology department with bilateral total subluxated cataract. On systemic examination, he was found to have grossly short stature, multiple severe bony deformities, hypogonadism and partial adontia. Detailed work-up revealed a biochemical and radiologic

Risk of cataract and history of severe diarrheal disease in southern India.

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A case-control study was carried out in the state of Tamil Nadu, southern India, to examine the association between the risk of visually disabling cataract and a lifetime history of severe diarrhea (including cholera). A series of 421 subjects, aged 35 to 65 years, meeting case (n = 181) and control

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

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OBJECTIVE 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 and

Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.

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BACKGROUND Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis. A diagnosis of CTX should be considered in patients with premature bilateral cataracts, intractable diarrhea, neurological signs and symptoms, and tendon xanthomas, especially in the Achilles

Years of sunlight exposure and cataract: a case-control study in a Mediterranean population.

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BACKGROUND We aimed to investigate the relation between sunlight exposure and risk of cataract. METHODS We carried out a frequency-matched case-control study of 343 cases and 334 controls attending an ophthalmology outpatient clinic at a primary health-care center in a small town near Valencia,

Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.

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Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid synthesis disorder caused by mutations in CYP27A1, the gene encoding sterol 27-hydroxylase, which results in elevated levels of plasma cholestanol and urinary bile alcohols. Clinical symptoms and signs may

Epidemiology of risk factors for age-related cataract.

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Epidemiologic studies on risk factors for cataract have progressed significantly over the last decade. Age-related cataract is a multifactorial disease, and different risk factors seem to play a role for different cataract types. Cortical and posterior subcapsular cataracts appear to be most closely

[Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis].

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BACKGROUND Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease. OBJECTIVE To identify and

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