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Cited by 148

The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.

Progressive loss of cones in achromatopsia. An imaging study using spectral-domain optical coherence tomography

Thiadens, Alberta A. H. J., Somervuo, Ville, van den Born, L. Ingeborgh, Roosing, Susanne, van Schooneveld, Mary J., Kuijpers, Robert W. A. M., van Moll-Ramirez, Norka, Cremers, Frans P. M., Hoyng, Carel B., Klaver, Caroline C. W.·2010·Investigative Opthalmology & Visual Science
DOI 10.1167/iovs.10-5680
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Abstract

Purpose Achromatopsia (ACHM) is a congenital autosomal recessive cone disorder with a presumed stationary nature and only a few causative genes. Animal studies suggest that ACHM may be a good candidate for corrective gene therapy. Future implementation of this therapy in humans requires the presence of viable cone cells in the retina. In this study the presence of cone cells in ACHM was determined, as a function of age. Methods The appearance and thickness of all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT) in 40 ACHM patients (age range, 4-70 years) with known mutations in the CNGB3, CNGA3, and PDE6C genes. A comparison was made with 55 healthy age-matched control subjects. Results The initial feature of cone cell decay was loss of inner and outer segments with disruption of the ciliary layer on OCT, which was observed as early as 8 years of age. Cone cell loss further progressed with age and occurred in 8 (42%) of 19 patients below 30 years and in 20 (95%) of 21 of those aged 30+ years. Retinal thickness was significantly thinner in the fovea of all patients (126 μm in ACHM vs. 225 μm in the control; P Conclusions ACHM is not a stationary disease. The first signs of cone cell loss occur in early childhood. If intervention becomes available in the future, the present results imply that it should be applied in the first decade.

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Crossref · 10.1167/iovs.10-5680

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Metadata

Authors
Thiadens, A. A. H. J., Somervuo, V., van den Born, L. I., Roosing, S., van Schooneveld, M. J., Kuijpers, R. W. A. M., van Moll-Ramirez, N., Cremers, F. P. M., Hoyng, C. B., & Klaver, C. C. W.
Affiliations
  • From the Departments of Ophthalmology and the Departments of 2Human Genetics, Nijmegen Centre for Molecular Life Sciences, and
  • the Department of Ophthalmology, Faculty of Medicine, University of Helsinki, Finland;
  • the The Rotterdam Eye Hospital, Rotterdam, The Netherlands;
  • the Departments of Human Genetics, Nijmegen Centre for Molecular Life Sciences, and
  • the Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands; the 6Netherlands Institute for Neuroscience, Amsterdam, The Netherlands;
  • From the Departments of Ophthalmology and
  • the Sensis, Centre for Care, Education and Services for Visually Impaired People, Grave, The Netherlands.
  • Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands;
  • From the Departments of Ophthalmology and 9Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands;
Venue
Investigative Opthalmology & Visual Science
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Published
2010-11-01
Volume
51
Issue
11
Pages
5952
ISSN
1552-5783
DOI
10.1167/iovs.10-5680
Cited by
148
References
23
Language
en

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