Skip to content
knowrare
HealthSignal
Your condition community

Living with Brittle cornea syndrome

A genetic condition of connective tissue that thins the clear front of the eye and can affect hearing, hips, and skin.

Get Signals Ask Anything

Understanding Brittle cornea syndrome

Brittle cornea syndrome (BCS) is a genetic condition that affects connective tissue in the eyes, ears, joints, and skin.

The cornea (the clear outer layer of the eye) becomes thin and may tear or rupture after minor damage. Other eye signs include nearsightedness, bluish whites of the eyes, and retinal detachment. Hearing loss, hip dysplasia, and soft skin with unusual scarring may also occur. It can be noticed in newborns and infants.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Thin cornea that can tear after minor injury
  • Severe nearsightedness
  • Bluish-gray whites of the eyes
  • Hearing loss
  • Very flexible joints
  • Soft, stretchy skin and easy bruising

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, eye disease specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    Bobby Jones Chiari & Syringomyelia Foundation may keep lists of experts for this condition.

Care & treatment

Care team
autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
Expert care
Expert lists: Bobby Jones Chiari & Syringomyelia Foundation
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 Bobby Jones Chiari & Syringomyelia Foundation and other patient organizations
  • 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
Bring these questions to your next doctor visit
Which type of BCS do I or my child have, and can genetic testing tell us?
How can we protect the eyes from injury?
How often should hearing and hips be checked?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive

Type 1 is caused by changes in the ZNF469 gene, and type 2 by changes in the PRDM5 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.

GeneticSkin

Also known as: brittle cornea syndrome type 1; kyphoscoliosis type; type vib ehlers-danlos syndrome

Patient organizations

Source: NIH GARD · Brittle cornea syndromeGARD ID 1019 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Brittle cornea syndrome.

Explore the Brittle cornea syndrome blog
Broader resource

9 Things to Know After Diagnosis

Read article
Broader resource

The Invisible Job: What Caregiving for a Rare Disease Really Looks Like

Read article
Broader resource

Embrace the Ask: How to Seek The Support You Need

Read article
Your experience could help someone else.

Share your story with our editorial team.

Share your story You choose what to share.

Explore research for Brittle cornea syndrome

Explore actively recruiting Brittle cornea syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Brittle cornea syndrome 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 Brittle cornea syndrome 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 Brittle cornea syndrome

Stay in the loop with community stories and updates from medical researchers.

HealthStoryfor Brittle cornea syndrome

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 Brittle cornea syndrome experiences more deeply and prepare for better conversations with your doctors and care team.

Start your journal

Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.