June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
Characteristics of Infantile Nystagmus using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Infants and Small Children
Author Affiliations & Notes
  • Helena Lee
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Viral Sheth
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Mashal Bibi
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Gail Maconachie
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Aarti Patel
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Frank Proudlock
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Rebecca McLean
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Michel Michaelides
    UCL Institute of Ophthalmlogy, University College London, London, United Kingdom
    Moorfields Eye Hospital, London, United Kingdom
  • Mervyn Thomas
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Irene Gottlob
    Ophthalmology Group, University of Leicester, Leicester, United Kingdom
  • Footnotes
    Commercial Relationships Helena Lee, None; Viral Sheth, None; Mashal Bibi, None; Gail Maconachie, None; Aarti Patel, None; Frank Proudlock, None; Rebecca McLean, None; Michel Michaelides, Novartis (R); Mervyn Thomas, None; Irene Gottlob, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 2326. doi:
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      Helena Lee, Viral Sheth, Mashal Bibi, Gail Maconachie, Aarti Patel, Frank Proudlock, Rebecca McLean, Michel Michaelides, Mervyn Thomas, Irene Gottlob, ; Characteristics of Infantile Nystagmus using Hand-Held Ultra-High Resolution Spectral Domain Optical Coherence Tomography in Infants and Small Children. Invest. Ophthalmol. Vis. Sci. 2013;54(15):2326.

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

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Abstract

Purpose: To investigate the feasibility and clinical use of ultra-high resolution spectral domain hand-held OCT (HH-OCT) in a systematic study of pathological foveal development in a cohort of infants and young children with nystagmus.

Methods: 50 patients were recruited and compared to 50 age-matched controls. The mean age was 3.2 ± 2.0 years (range 0-8 years). Each patient had a full orthoptic and ophthalmological examination, and a HH-OCT scan (Bioptigen, 2.6µm axial resolution) without sedation. Each scan was screened for the presence of foveal hypoplasia (graded from 0-4) or atypical foveal hypoplasia and other abnormalities of macular morphology. A differential diagnosis was made on the basis of OCT findings and correlated with, clinical, genetic or electrophysiological findings.

Results: Scans were obtained in 94% of cases at the first examination and 100% at the second examination. Twenty-three patients had typical foveal hypoplasia. Of these, 21 had albinism and 2 harboured PAX6 mutations. Five patients had atypical foveal hypoplasia (continuous inner retinal layers in the macula region with additional evidence of inner segment/outer segment junction disruption). Six cases with retinal dystrophy had other abnormal macular morphology. The remaining 16 patients had a normal examination, with 12 subsequently diagnosed with idiopathic nystagmus and 4 with latent nystagmus.

Conclusions: Excellent feasibility of the HH-OCT in this challenging cohort of infants and young children with nystagmus has been demonstrated. Examining OCT scans for the presence or absence of foveal hypoplasia, whether it is typical or atypical, and the presence or absence of other abnormal macular morphology, is helpful in the differential diagnosis of infantile nystagmus. This may facilitate more focused investigations and earlier diagnosis, which is likely to become increasingly important in an era where potentially time sensitive interventions such as gene therapy are being undertaken.

Keywords: 619 nystagmus • 550 imaging/image analysis: clinical • 556 infant vision  
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