The most common form of inherited juvenile macular
degeneration. Characterized by a reduction of central vision with a
preservation of peripheral vision. Onset before the age of 20 years; macula
presents yellow-white spots of irregular shapes.
Stargardt Disease; Stargardt Macular Degeneration;
Familial Juvenile Macular Degeneration; Juvenile Hereditary Disciform
Macular Degeneration; Fundus Flavimaculatus; Central Retinitis Pigmentosa.
This autosomal recessive
transmitted disease with gene map locus 1p21-p13 is the most common cause of
juvenile-onset macular degeneration and affects at least 1 in 20,000
children older than the age of 6 years. The disorder is characterized by
subretinal deposition of lipofuscin-like material (termed “flecks”) around
the macular area. There is evidence that the disease is caused by a mutation
in the retina-specific ATP-binding cassette transporter (ABCR) gene.
In general, the age at manifestation of the
disease is between 6 and 20 years with decreased central vision being the
first symptom, although some patients do not suffer from any symptoms (loss
of color vision, loss of peripheral vision, photophobia, paracentral
scotoma, night blindness) until the age of 40 years. Fundus flavimaculatus
is the descriptive term for this macular degeneration surrounded by
white-yellowish flecks and spots distributed all over the fundus, although
some researchers consider fundus flavimaculatus to be an allelic variant of
Stargardt disease with differences in age at onset (between 17 and 60
years), severity, and clinical course (more progressive). The rapidly
progressive disease occurs usually bilaterally and symmetrically and results
in legal blindness in 50% of patients by the age of 50 years. No
effective treatment is available.
Especially in younger patients
undergoing ophthalmic examination under general anesthesia, oculocardiac
reflex with profound bradycardia should be expected. No other specific
anesthetic considerations are expected to arise from this disease.
Armstrong J, Meyer D, Xu S, et al: Long-term follow-up of Stargardt's
disease and fundus flavimaculatus. Ophthalmology
Hadden OB, Gass JD: Fundus flavimaculatus and Stargardt's disease. Am J Ophthal
Kaplan J, Gerber S, Larget-Piet D, et al: A gene for Stargardt's disease
(fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet