Living with Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
A rare genetic eye condition with large corneas and a misshapen or shifted lens that can lead to glaucoma.
Understanding Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
People are born with unusually large corneas (megalocornea), together with a round lens (spherophakia) and/or a lens that has shifted (ectopia lentis). This leads to blocked fluid flow at the pupil and glaucoma. Other features may include nearsightedness, a very deep front chamber of the eye, eye pain and irritation, and a high palate.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Large corneas from birth (megalocornea)
- Lens that is round or has moved out of place
- Glaucoma (high eye pressure)
- Nearsightedness (myopia)
- Eye pain and irritation
- High arched palate
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 LTBP2 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 LTBP2 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: megalocornea-spherophakia-secondary glaucoma syndrome; megalocornea, spherophakia, secondary glaucoma 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 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea.
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