June 2015
Volume 56, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2015
Retinal Development in Achromatopsia: A Prospective Study of Infants and Young Children using Optical Coherence Tomography
Author Affiliations & Notes
  • Helena Lee
    Ophthalmology, University of Leicester, Leicester, United Kingdom
  • Ravi Purohit
    Ophthalmology, University of Leicester, Leicester, United Kingdom
  • Viral Sheth
    Ophthalmology, University of Leicester, Leicester, United Kingdom
  • Rebecca Jane McLean
    Ophthalmology, University of Leicester, Leicester, United Kingdom
  • Gail Maconachie
    Ophthalmology, University of Leicester, Leicester, United Kingdom
  • Susanne Kohl
    Insitute for Ophthalmic Research, Molecular Genetics Laboratory, Universitätsklinikum Tübingen, Tübingen, Germany
  • Bart Peter Leroy
    Dept of Ophthalmology & Ctr for Medical Genetics, Ghent University, Ghent, Belgium
    Div of Ophthalmology & Ctr for Cellular & Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA
  • Michel Michaelides
    UCL Institute of Ophthalmology, London, United Kingdom
  • Frank A Proudlock
    Ophthalmology, University of Leicester, Leicester, United Kingdom
  • Irene Gottlob
    Ophthalmology, University of Leicester, Leicester, United Kingdom
  • Footnotes
    Commercial Relationships Helena Lee, None; Ravi Purohit, None; Viral Sheth, None; Rebecca McLean, None; Gail Maconachie, None; Susanne Kohl, None; Bart Leroy, None; Michel Michaelides, None; Frank Proudlock, None; Irene Gottlob, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2015, Vol.56, 5855. doi:
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      Helena Lee, Ravi Purohit, Viral Sheth, Rebecca Jane McLean, Gail Maconachie, Susanne Kohl, Bart Peter Leroy, Michel Michaelides, Frank A Proudlock, Irene Gottlob; Retinal Development in Achromatopsia: A Prospective Study of Infants and Young Children using Optical Coherence Tomography. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):5855.

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

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Abstract

Purpose: To characterize postnatal retinal development in infants and young children with achromatopsia using hand-held spectral domain optical coherence tomography (HH-SDOCT) and to investigate whether retinal changes are progressive.<br />

Methods: Forty-one mixed cross-sectional and longitudinal HH-SDOCT images were obtained from eight infants and young children with achromatopsia (mean age 3.3 years; range 0-8.3 years) and compared with 82 age-matched control examinations. All patients had homozygous mutations in either CNGA3 (n=2) or CNGB3 (n=6). Retinal layer segmentation was performed manually using ImageJ. Differences in development of retinal layers with age between the achromatopsia and control groups were analysed using linear mixed regression modelling. The severity and progression of photoreceptor disruption was evaluated in all participants with longitudinal data (11 eyes of 6 participants; mean follow-up time 14.8 months; range 7.2-20.9 months).<br />

Results: In achromatopsia, retinal thickness increased more slowly with age and was reduced at the fovea in comparison to controls (p < 0.05). There was delayed regression of the inner retinal layers (IRLs) at the fovea and a reduction in the thickness of the perifoveal IRLs. This was especially significant for the perifoveal inner (p < 0.0001) and outer (p < 0.01) plexiform layers. Elongation of the outer retinal layers (ORLs) was diminished across the retina resulting in a significant reduction in ORL thickness, especially at the fovea (p < 0.0001). There was evidence of an increase (4 eyes), decrease (1 eye) and no change (2 eyes) in the grade of photoreceptor disruption on longitudinal assessment. Interestingly, in 4 eyes both an increase and decrease in the grade of photoreceptor disruption was observed at different time points.<br />

Conclusions: Previously, it has been thought that retinal development is arrested in achromatopsia. We demonstrate ongoing retinal development in achromatopsia in the postnatal period albeit at an altered rate and magnitude in comparison to controls. Achromatopsia appears to be a dynamic and progressive condition in infants and young children. This has potential implications for planned gene therapy, since intervention at the earliest stages of the disease may promote normal retinal development.<br />

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