Living with Familial congenital nasolacrimal duct obstruction
A rare inherited condition in which a baby's tear drainage duct is blocked, causing watery eyes.
Understanding Familial congenital nasolacrimal duct obstruction
It runs in families and is seen during pregnancy or in newborns. Signs may include a lump at the inner corner of the eye, infection of the tear sac, a stuffy nose, and swelling around the eye.
Signs & symptoms
GARD lists this as the most common symptom:
- Watery eyes (epiphora)
- A lump at the inner corner of the eye
- Tear sac infection (dacryocystitis)
- Stuffy nose
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
Specialists who may be involved include ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in IGSF3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the IGSF3 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: lacrimal duct defect; lacrimal puncta, absence of
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial congenital nasolacrimal duct obstruction.
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