Living with Isolated congenital alacrima
A condition present from birth in which the eyes make few or no tears.
Understanding Isolated congenital alacrima
Tear production can range from none to lower than normal. It is present from birth and is seen in newborns and infants. The eyes may be dry and more prone to irritation.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No tears (alacrima)
- Corneal inflammation (keratitis)
- Damage to the cornea's outer layer
- Drooping upper eyelid
- Sensitivity to light
- Pink eye (conjunctivitis)
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 eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
GARD says changes in genes cause this condition. It can be inherited in an autosomal dominant way (one changed copy is enough) or an autosomal recessive way (a changed copy from each parent).
Also known as: nonsyndromic congenital alacrima
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 Isolated congenital alacrima.
Explore research for Isolated congenital alacrima
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