Dr. Deborah VanderVeen is a pediatric ophthalmologist from Boston Children’s Hospital. Dr. Sharon Freedman is a pediatric ophthalmologist from Duke Eye Center. Dr. P Barton Duell is an endocrinologist and lipid specialist from Oregon Health Sciences University.

Program faculty members are available for Q&A by teleconference or email. Please note that faculty will only provide educational and informational input in response to your questions.

Please email info@p2psyncro.com to schedule. This is provided at no cost.

Cholestanol testing for CTX is provided at Oregon Health Science University, Kennedy Krieger Institution, Emory Genetic Laboratory, Mayo Laboratory, Boston Heart Diagnostics. Prevention Genetics Laboratory (https://www.preventiongenetics.com/travere_cataracts) and Oregon Health Science University (https://www.ourweb2print.com/EGL-CTX-Test-Kit/index.html) provide testing at no charge.

Please note that these testing availabilities are subject to change.

Cerebrotendinous xanthomatosis (CTX) is a metabolic disease with a defect in the CYP27A1 gene. In CTX, the increased cholestanol can deposit in tendons, ocular lens, and brain, leading to childhood cataracts, chronic diarrhea, tendon xanthomas, and neurological manifestations (e.g., developmental delays, intellectual disability/cognitive impairment, behavioral/personality disorders, ataxia, seizures).

The diagnostic delay in CTX is estimated to be 20 to 25 years. CTX is a treatable disease. Timely diagnosis is crucial to preventing neurological damage and deterioration. After significant neurological pathology is established, the effect of treatment is limited and deterioration may continue (Yahalom 2013, Stelten 2019, Amador 2018).

What went through your mind when you first heard about CTX? When I first heard about CTX, I thought I do not know what it is and I do not have patients with the disease.

Do you remember the time when you first diagnosed CTX? The first CTX patient that I diagnosed has behavioral issues, which is part of the neurological manifestations of CTX. When I tried to draw blood from him for CTX testing, he would not cooperate. I had to wait for him to fall into sleep first…

Where is CTX on the list of differential diagnosis of bilateral cataracts? There are many causes of bilateral cataracts with juvenile onset (e.g., galactosemia, diabetes, uveitis associated with chronic juvenile arthritis). It showed in one study that among patients with known neurologic disorder and early-onset cataracts, CTX may be the 2nd most common cause after myotonic dystrophy.

How often do we see cataracts in CTX patients and CTX in cataracts patients? In a systematic review of selected case series, the prevalence of cataracts in CTX patients was 88%, it presents between the ages of 4 and 18 years due to buildup of cholestanol in the lens. Among individuals with childhood onset cataracts, 3 out of 170 (1.8%) were found to have CTX, which means 500-fold increase in prevalence than in general population

Dr. Deborah VanderVeen is a pediatric ophthalmologist from Boston Children’s Hospital. Dr. Sharon Freedman is a pediatric ophthalmologist from Duke Eye Center. Dr. P Barton Duell is an endocrinologist and lipid specialist from Oregon Health Sciences University.

Program faculty members are available for Q&A by teleconference or email. Please note that faculty will only provide educational and informational input in response to your questions.

Please email info@p2psyncro.com to schedule. This is provided at no cost.

Cholestanol testing for CTX is provided at Oregon Health Science University, Kennedy Krieger Institution, Emory Genetic Laboratory, Mayo Laboratory, Boston Heart Diagnostics. Prevention Genetics Laboratory (https://www.preventiongenetics.com/travere_cataracts) and Oregon Health Science University (https://www.ourweb2print.com/EGL-CTX-Test-Kit/index.html) provide testing at no charge.

Please note that these testing availabilities are subject to change.

Cerebrotendinous xanthomatosis (CTX) is a metabolic disease with a defect in the CYP27A1 gene. In CTX, the increased cholestanol can deposit in tendons, ocular lens, and brain, leading to childhood cataracts, chronic diarrhea, tendon xanthomas, and neurological manifestations (e.g., developmental delays, intellectual disability/cognitive impairment, behavioral/personality disorders, ataxia, seizures).

The diagnostic delay in CTX is estimated to be 20 to 25 years. CTX is a treatable disease. Timely diagnosis is crucial to preventing neurological damage and deterioration. After significant neurological pathology is established, the effect of treatment is limited and deterioration may continue (Yahalom 2013, Stelten 2019, Amador 2018).

What went through your mind when you first heard about CTX? When I first heard about CTX, I thought I do not know what it is and I do not have patients with the disease.

Do you remember the time when you first diagnosed CTX? The first CTX patient that I diagnosed has behavioral issues, which is part of the neurological manifestations of CTX. When I tried to draw blood from him for CTX testing, he would not cooperate. I had to wait for him to fall into sleep first…

Where is CTX on the list of differential diagnosis of bilateral cataracts? There are many causes of bilateral cataracts with juvenile onset (e.g., galactosemia, diabetes, uveitis associated with chronic juvenile arthritis). It showed in one study that among patients with known neurologic disorder and early-onset cataracts, CTX may be the 2nd most common cause after myotonic dystrophy.

How often do we see cataracts in CTX patients and CTX in cataracts patients? In a systematic review of selected case series, the prevalence of cataracts in CTX patients was 88%, it presents between the ages of 4 and 18 years due to buildup of cholestanol in the lens. Among individuals with childhood onset cataracts, 3 out of 170 (1.8%) were found to have CTX, which means 500-fold increase in prevalence than in general population