Living with Cataract-glaucoma syndrome
A condition with cataracts in both eyes from birth, followed by glaucoma later in childhood or adulthood.
Understanding Cataract-glaucoma syndrome
Glaucoma appears between ages 10 and 40. It begins in the newborn and infant years.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Its summary describes these features:
- Cloudy lenses in both eyes from birth (cataracts)
- Glaucoma that appears between ages 10 and 40
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 PITX3 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 Prevent Blindness America
- 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 PITX3 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: cataract - glaucoma; cataract glaucoma syndrome
Patient organizations
- Prevent Blindness AmericaCataract-glaucoma syndrome · United States
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