Living with Anterior segment dysgenesis 8
A rare eye condition that mainly affects the iris and lens in both eyes, usually without high eye pressure.
Understanding Anterior segment dysgenesis 8
Features can include an underdeveloped iris, an off-center pupil, a lens that is small or out of place, and cataracts. Increased pressure in the eye is absent in most people. GARD lists onset anywhere from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Clouding of the lens (cataract)
- Off-center pupil (ectopia pupillae)
- Lens out of place (ectopia lentis)
- Underdeveloped iris
- Small lens (microphakia)
- Light shining through the iris (transillumination defect)
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 CPAMD8 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation Fighting Blindness
- 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 Foundation Fighting Blindness
- 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 changes in the CPAMD8 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: anterior segment dysgenesis caused by mutation in cpamd8; anterior segment dysgenesis type 8; asgd8; autosomal recessive anterior segment dysgenesis; autosomal recessive dysgenesis of anterior segment of eye; cpamd8 anterior segment dysgenesis
Patient organizations
- Foundation Fighting BlindnessAnterior segment dysgenesis 8 · United States
You are more than your diagnosis
Perspectives from people navigating life with Anterior segment dysgenesis 8.
Explore research for Anterior segment dysgenesis 8
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