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Samuel G. Jacobson, Artur V. Cideciyan, Elizabeth Wright, Alan F. Wright; Phenotypic Marker for Early Disease Detection in Dominant Late-Onset Retinal Degeneration. Invest. Ophthalmol. Vis. Sci. 2001;42(8):1882-1890.
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purpose. To define early disease expression in autosomal dominant late-onset
retinal degeneration (L-ORD), a retinopathy that becomes symptomatic
after age 50 and is characterized histopathologically by sub-RPE
methods. Three families with L-ORD were included; two families had postmortem
eye donors with retina-wide sub-RPE deposits. Six patients with severe
visual loss (ages 62–93) were examined clinically, and 17 available
individuals (ages 35–60) at a 50:50 risk to inherit L-ORD were also
studied with dark adaptometry. A short-term trial of vitamin A at
50,000 IU/day was conducted in three members. Three-year follow-up
examinations were performed in a subset of members.
results. Family 1 had 12 available members at risk. On initial examination, only
one member had fundus abnormalities: yellow-white punctate lesions in
the midperipheral fundus. Dark-adaptation kinetics were abnormal in 6
of 12. The youngest age with an abnormality was 35. Family 2 had two
available members at risk, both of whom had punctate fundus lesions and
abnormal dark adaptation. Family 3 had three available members at risk.
One had fundus lesions and abnormal dark adaptation, whereas the others
had normal fundi and normal adaptometry. Vitamin A accelerated
adaptation kinetics but not to normal rates. Three-year follow-up
examinations demonstrated further slowing of adaptation kinetics,
whereas rod and cone thresholds remained unchanged.
conclusions. Dark-adaptation abnormalities can precede symptoms and funduscopic
signs of L-ORD by at least a decade. Short-term, high-dose vitamin A
accelerates the kinetics of dark adaptation to a limited degree. The
results contribute clues about early pathophysiology of this retinal
degeneration and provide additional power for genetic mapping of the
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