These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.
    Author: Jacobson SG, Cideciyan AV, Wright E, Wright AF.
    Journal: Invest Ophthalmol Vis Sci; 2001 Jul; 42(8):1882-90. PubMed ID: 11431457.
    Abstract:
    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 deposits. 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 L-ORD locus.
    [Abstract] [Full Text] [Related] [New Search]