April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Clinical and Genetic Characteristics of Childhood-onset Stargardt Disease
Author Affiliations & Notes
  • Kaoru Fujinami
    Laboratory of Visual Physiology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Japan
    Ophthalmology, Keio University, School of Medicine, Shinjyuku-ku, Japan
  • Jana Zernant
    Ophthalmology, Columbia University, New York, NY
  • Yoko Ozawa
    Laboratory of Retinal Cell Biology, Department of Ophthalmology, Keio University, School of Medicine, Shinjyuku-ku, Japan
  • Kazuo Tsubota
    Ophthalmology, Keio University, School of Medicine, Shinjyuku-ku, Japan
  • Anthony G Robson
    Electrophysiology, Moorfields Eye Hospital, London, United Kingdom
  • Graham E Holder
    Electrophysiology, Moorfields Eye Hospital, London, United Kingdom
  • Andrew Webster
    Genetics, UCL Institute of Ophthalmology, London, United Kingdom
    Medical Retina, Moorfields Eye Hospital, London, United Kingdom
  • Rando Allikmets
    Ophthalmology, Columbia University, New York, NY
    Pathology and Cell Biology, Columbia University, New York, NY
  • Michel Michaelides
    Genetics, UCL Institute of Ophthalmology, London, United Kingdom
    Medical Retina, Moorfields Eye Hospital, London, United Kingdom
  • Anthony T Moore
    Genetics, UCL Institute of Ophthalmology, London, United Kingdom
    Medical Retina, Moorfields Eye Hospital, London, United Kingdom
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 1430. doi:
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      Kaoru Fujinami, Jana Zernant, Yoko Ozawa, Kazuo Tsubota, Anthony G Robson, Graham E Holder, Andrew Webster, Rando Allikmets, Michel Michaelides, Anthony T Moore; Clinical and Genetic Characteristics of Childhood-onset Stargardt Disease. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1430.

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

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Abstract

Purpose: Clinical and genetic characterization of 42 patients with childhood-onset Stargardt Disease (STGD).

Methods: Detailed history and ophthalmic examination were undertaken in forty-two patients diagnosed with STGD in childhood, including fundus photography, autofluorescence imaging, spectral-domain optical coherence tomography (SD-OCT), and pattern and full-field electroretinograms. The entire ABCA4 gene was screened by next generation sequencing.

Results: The median ages of onset and the median age at examination were 8.5 years (range 3-16) and 12.0 years (range 7-16), respectively. The median LogMAR visual acuity was 0.74. 26 (59%) of 39 patients with available photographs had macular atrophy with macular/peripheral flecks; eleven (28%) had macular atrophy without flecks; one (2.5%) had numerous flecks without macular atrophy; and one (2.5%) had a normal fundus. Flecks were not identified in 12 patients (31%). SD-OCT detected outer retinal disruption at the fovea in all 21 patients with available images. Electrophysiological assessment demonstrated retinal dysfunction confined to the macula in 9 patients (36%), macular and generalized cone dysfunction in 1 subject (4%), and macular and generalized cone and rod dysfunction in 15 individuals (60%). Two or more disease-associated ABCA4 variants were identified in 34/42 (81%) patients; of these, definitely deleterious variants were present in 22/42 (52%) patients.

Conclusions: Childhood-onset STGD is associated with severe visual loss, early morphological changes, and often generalized retinal dysfunction; despite often less severe fundus abnormalities. The high proportion of deleterious ABCA4 variants supports the hypothesis that the earlier disease onset is, in a large part, due to more severe mutations.

Keywords: 696 retinal degenerations: hereditary • 539 genetics • 509 electroretinography: clinical  
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