Living with Congenital cataract-ichthyosis syndrome
A very rare inherited condition with cloudy eye lenses from birth and dry, scaly skin.
Understanding Congenital cataract-ichthyosis syndrome
GARD notes it has been described in fewer than ten people from two unrelated families.
Signs & symptoms
GARD doesn't list specific symptoms beyond the main features.
- Cataract (clouded eye lens) from birth
- Dry, scaly skin (ichthyosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation for Ichthyosis and Related Skin Types
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't name a gene here. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesCongenital cataract-ichthyosis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital cataract-ichthyosis syndrome.
Explore research for Congenital cataract-ichthyosis syndrome
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- Eligibility is confirmed by the study team
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