Juvenile Onset Macular Degeneration, Stargardt’s Disease,
Fundus Flavimaculatus, Stargardt Macular Dystrophy

I. Autosomal Recessive Stargardt Macular Dystrophy
(90-95% of all cases)

Definition: Early onset macular dystrophy, leading to macular degeneration and blindness.

Clinical Presentation: Early unexplained visual loss associated with retinal changes, abnormalities of the retinal epithelium, later atrophic macular degeneration with or w/out yellow fundus flecks, pallor of optic nerve head and minimal color vision defects.

Cause: Defective ABCA4 (50 exons) gene of chromosome 1p21.
Diagnosis: Based on clinical presentation, electrooculography, electroretinography, DNA sequence variations and inheritance patterns.
Treatments: No treatment for Stargardt’s exists. One option may be laser treatment for sealing leaking vessels as used for wet macular degeneration to coagulate choroidal neovascularization membranes.
Visual aids may help.

Prognosis: Autosomal recessive means that there is a 25% chance that a child will inherit the diseased gene from each parent.

What to do:
Minimize exposure to bright light, obtain genetic counseling.

II. Autosomal Dominant Stargardt-Like Macular Dystrophy
(5-10% cases)

Definition: Early onset macular dystrophy, leading to macular degeneration and blindness.

Clinical Presentation: Early onset visual loss at age 10-20 associated with retinal changes and abnormalities of the retinal epithelium with blurry, uncorrectable vision and difficulty adapting to bright light.
Subsequent changes include atrophic macular degeneration with or w/out yellow fundus flecks, pallor of optic nerve head and minimal color vision defects. Highly penetrant by age 20; almost completely penetrant by age 30.

Cause: Defective ELOVL4 gene (6exons) of chromosome 6q14.

Diagnosis: Based on clinical presentation, electrooculography, electroretinography DNA sequence variations and inheritance patterns.

Treatments: No treatment for Stargardt’s exists. Visual aids may help.

Prognosis: Autosomal dominant means that there is a 50% chance that children will inherit the diseased gene; 90% of patients over 20 years are affected with vision of 20/200 and legal blindness by late 20s. By 40-50 the vision is 20/400 and by age 60-70 it is 20/800. Non-macular visual function however is retained throughout life.

What to do: Minimize exposure to bright light, obtain genetic counseling.

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