Living with Isolated cryptophthalmia
A rare condition present from birth in which the eyelids are missing and skin covers the eye, which is often smaller than usual.
Understanding Isolated cryptophthalmia
The eye underneath is often smaller than usual (microphthalmic). GARD notes six cases of complete cryptophthalmia in both eyes have been described. It starts during pregnancy and is seen in newborns.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Eyelids missing
- Skin covering the eye
- Smaller than usual eye (microphthalmia)
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.
- 3Consider genetic testing
Changes in FREM2 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
- 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 FREM2 gene are listed. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: ankyloblepharon, simple; cryptophthalmos, unilateral or bilateral, isolated; nonsyndromic cryptophthalmia
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 cryptophthalmia.
Explore research for Isolated cryptophthalmia
Explore actively recruiting Isolated cryptophthalmia studies with HealthSpark.
Find actively recruiting studies for Isolated cryptophthalmia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Isolated cryptophthalmia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Isolated cryptophthalmia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Isolated cryptophthalmia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.