Adult-onset foveomacular vitelliform…

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Adult-onset foveomacular vitelliform dystrophy

ORPHA:99000Disease

Also called AOFMD · AVMD · Adult-onset foveomacular dystrophy · Adult-onset foveomacular dystrophy with choroidal neovascularization · Adult-onset vitelliform macular dystrophy · Gass disease · Pseudo-Best disease · Pseudo-vitelliform macular dystrophy

What it is

A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.

Key facts

Age of onset
Adult
Inheritance
Autosomal dominant, Not applicable
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

BEST1Disease-causing germline mutation(s)
IMPG1Disease-causing germline mutation(s)
IMPG2Disease-causing germline mutation(s)
PRPH2Disease-causing germline mutation(s)

ICD-10 codes

H35.5filed under a broader ICD-10 category — shared with 49 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10909MONDO 0011979OMIM 153840OMIM 608161OMIM 616151OMIM 616152UMLS C1842914

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.