Living with Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
A recently described genetic condition with drooping eyelids, limited upward eye movement, and missing tear duct openings.
Understanding Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
It involves missing openings (puncta) in the lower eyelids for tear drainage, drooping of both upper eyelids, and trouble moving both eyes upward. Mild facial differences are also listed. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Drooping upper eyelids (ptosis)
- Trouble moving the eyes upward
- Missing tear duct openings (absent lacrimal punctum)
- Absent eyelashes
- Widely spaced inner eye corners
- Differences in ear shape
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 gene changes cause this condition, and it is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene yet.
Also known as: ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome
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 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome.
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