Living with Multifocal pattern dystrophy simulating fundus flavimaculatus
A rare inherited retinal condition with yellowish flecks around the macula that often causes slow vision loss only later in life.
Understanding Multifocal pattern dystrophy simulating fundus flavimaculatus
Many yellowish, irregular flecks are scattered or linked around the macula, the center of the retina. People usually have no symptoms until adulthood. Then vision loss is slow, and it often only becomes apparent in old age.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes slow vision loss that often shows up in adulthood.
- Yellowish flecks around the macula
- No symptoms until adulthood
- Slow vision loss over time
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 PRPH2 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
This condition is caused by changes in the PRPH2 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus; multifocal pattern dystrophy simulating stargardt disease
Patient organizations
- Foundation Fighting BlindnessMultifocal pattern dystrophy simulating fundus flavimaculatus · United States
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