Skip to content
Use your HSA or FSA funds

Condition report · Ophthalmological

Stargardt Disease

The most common inherited macular dystrophy, usually caused by variants in ABCA4. It causes progressive loss of central vision, often starting in childhood or early adulthood.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 4 conditions we analyse

Stargardt Disease

An inherited macular dystrophy, most often ABCA4-related, with lipofuscin accumulation and progressive central vision loss.

Genes analysed

Also known as

fundus flavimaculatus; juvenile onset macular degeneration; Stargardt 1; Stargardt disease 1; Stargardt macular dystrophy

Includes 4 related subtypes ↓
  • severe early-childhood-onset retinal dystrophy
  • Stargardt disease 3
  • Stargardt disease 4
  • Stargardt disease 5
MONDO:0019353Orphanet 827MedGen 75734

ABCA4-Related Retinopathy

Autosomal recessive

A retinal dystrophy caused by changes in both copies of ABCA4, the most common cause of Stargardt disease, also causing cone-rod dystrophy.

Genes analysed

Includes 3 related subtypes ↓
  • cone-rod dystrophy 3
  • retinitis pigmentosa 19
  • severe early-childhood-onset retinal dystrophy
MONDO:0800406

ELOVL4-Related Maculopathy

Autosomal dominant

A dominant Stargardt-like macular dystrophy caused by changes in ELOVL4.

Genes analysed

Includes 1 related subtype ↓
  • Stargardt disease 3
MONDO:0700227

PROM1-Related Dominant Retinopathy

Autosomal dominant

A dominant Stargardt-like macular dystrophy caused by changes in PROM1.

Genes analysed

Includes 2 related subtypes ↓
  • retinal macular dystrophy type 2
  • Stargardt disease 4
MONDO:1040053

Other ophthalmological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium