Inherited, gradually starting, progressive,
polymorphic macular degeneration.
Vitelliform Macular Dystrophy; Polymorphic Vitelline
Macular Degeneration; Juvenile Vitelliform Macular Dystrophy.
Unknown. Several large kindreds have been reported in
the literature, with one gene source being traced back to the 17th century
Autosomal dominant inheritance. Gene linkage
studies demonstrated the gene responsible for Best disease is located on
chromosome 11q13. However, later work illustrated the genetic heterogeneity
of the condition and described several allelic variants. One case of
nonpenetrance of Best disease has been reported.
Characterized by a gross yellow or orange discoid
subretinal lesion in the macula. Histopathologic findings on postmortem
specimens showed excessive lipofuscin accumulation in the retinal pigment
epithelial cells and the subretinal pigment epithelial cell space. The final
stage of retinal pigment epithelial atrophy, uncommon before the age of 40 years,
may result in a choroidal neovascularization membrane with further loss in
Usually diagnosed between 3 and 16 years of age, with a
mean age at manifestation of 6 years. The diagnosis is based on the characteristic
appearance of a discoid lesion in the macula, which usually is bilateral, but
may be asymmetric. The mass described in the macular area initially has the
appearance of the intact yolk of a fried egg and seems to be present at
birth. Progression of the disease with abnormal pigmentation then results in
a picture called scrambling the egg. Photoreceptor loss occurs in the affected area, and the
origin of the accumulated material is thought to derive from degenerated
pigment epithelial cells of the retina. Patients and carriers of the
disorder have abnormal responses in the electrooculogram.
Electroretinographic responses remain normal.
Fundoscopy reveals the changes usually before
visual impairment exists. Therefore visual acuity usually is normal at first
manifestation, but the condition tends to be progressive over many years and
results in abnormal pigmentation, chorioretinal atrophy, and gradual visual
impairment. No systemic manifestations of the condition have been noted. No
effective treatment for this disease is known. Although rare, marked loss of
central vision may render patients legally blind. Choroidal neovascularization can
be controlled by laser treatment.
No specific precautions are
Especially in younger patients
undergoing ophthalmic examination under general anesthesia, oculocardiac
reflex with profound bradycardia should be expected. Treatment is twofold
and includes first stopping the stimulation and second, if still necessary,
anticholinergic drugs. No other specific precautions are required.
No known specific pharmacological
Stargardt Syndrome: Inherited and rapidly progressive macular
degeneration with juvenile onset.
Central Serous Retinopathy (Central Serous Chorioretinopathy):
Retinal pigment epithelial disorder generally occurring in patients younger
than 50 years and presenting with unilateral, acute decrease of visual
Gorman S, Flaherty WA, Fishman GA, et ...