May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Abnormalities in Cone-mediated ERGs in Eyes of Patients with Fundus Albipunctatus with RDH5 Mutations
Author Affiliations & Notes
  • Y. Niwa
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya city, Japan
  • M. Kondo
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya city, Japan
  • M. Nakamura
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya city, Japan
  • S. Ueno
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya city, Japan
  • C. Piao
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya city, Japan
  • H. Terasaki
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya city, Japan
  • Y. Miyake
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya city, Japan
  • Footnotes
    Commercial Relationships  Y. Niwa, None; M. Kondo, None; M. Nakamura, None; S. Ueno, None; C. Piao, None; H. Terasaki, None; Y. Miyake, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1862. doi:
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      Y. Niwa, M. Kondo, M. Nakamura, S. Ueno, C. Piao, H. Terasaki, Y. Miyake; Abnormalities in Cone-mediated ERGs in Eyes of Patients with Fundus Albipunctatus with RDH5 Mutations . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1862.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: Recent studies have shown that the RDH5 gene, which encodes 11-cis-retinol dehydrogenase, is required for the regeneration of both rod and cone visual pigments. We studied the cone-mediated ERGs in patients with fundus albipunctatus (FA) from RDH5 mutations. Methods: Eight patients with FA were studied (5 men and 3 women; age, 10-55, mean, 24.3). Genomic analysis showed that all patients had mutations in the RDH5 gene. FA patients associated with cone dystrophy or maculopathy (Miyake et al, 1992; Nakamura et al, 1999) were excluded. Cone-mediated ERGs (single-flash cone and 30-Hz flicker responses) were recorded under a rod-desensitizing background. These ERGs were recorded immediately after a light-adapting light was turned and after 10 minutes of light adaptation. The amplitudes were compared to those from 20 age-matched controls. Results: The amplitude of cone ERGs in the FA group did not differ significantly from controls when recorded at the beginning of light adaptation (single-flash; FA=80.1±20.0, control=80.0±14.6 mV, 30-Hz; FA=28.4±8.8, control=31.3±8.4 mV). However, the amplitudes were significantly smaller than controls when recorded after 10 minutes of light adaptation (single-flash; FA=87.5±32.0, control=122.6±28.9 mV, 30-Hz flicker; FA=26.5±16.2, control=38.2±10.7 mV). The percentage increase of the cone ERG amplitude during 10 minutes of light adaptation was significantly lower in FA (single-flash; 109%, 30-Hz flicker; 92%) than in the controls (single flash; 154%, flicker; 122%). Conclusions: Cone-mediated ERGs in FA were significantly smaller than those of controls when recorded after 10 minutes of light adaptation. These results might be caused by the abnormal recovery kinetics of cone visual pigments due to RDH5 mutations.

Keywords: electroretinography: clinical • gene mapping • retinal degenerations: hereditary 
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