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Foveal structure and visual function in nanophthalmos and posterior microphthalmos
  1. Philipp L Müller1,2,3,4,
  2. Tim Treis5,
  3. Abdulrahman Alsaedi1,6,
  4. Andrew R Webster1,4,
  5. Peng Khaw1,4,
  6. Michel Michaelides1,4,
  7. Louisa Wickham1,4,
  8. Dilani Siriwardena1,
  9. Paul Foster1,4,
  10. Mariya Moosajee1,7,
  11. Carlos Pavesio1,
  12. Adnan Tufail1,4,
  13. Catherine Egan1,4
  1. 1 Moorfields Eye Hospital NHS Foundation Trust, London, UK
  2. 2 Department of Ophthalmology, University of Bonn, Bonn, Germany
  3. 3 Macula Center, Suedblick Eye Centers, Augsburg, Germany
  4. 4 Institute of Ophthalmology, University College London, London, UK
  5. 5 Institute of Pharmacy and Molekular Biotechnology, University of Heidelberg, Heidelberg, Germany
  6. 6 College of Medicine, Imam Muhammad bin Saud Islamic University, Riyadh, Saudi Arabia
  7. 7 Great Ormond Street Hospital for Children, London, UK
  1. Correspondence to Professor Catherine Egan, Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; cathy.egan{at}


Background/aims The reason for visual impairment in patients with nanophthalmos and posterior microphthalmos is not completely understood. Therefore, this study aims to investigate foveal structure, and the impact of demographic, clinical and imaging parameters on best-corrected visual acuity (BCVA) in these conditions.

Methods Sixty-two eyes of 33 patients with nanophthalmos (n=40) or posterior microphthalmos (n=22), and 114 eyes of healthy controls with high-resolution retinal imaging including spectral-domain or swept-source optical coherence tomography images were included in this cross-sectional case–control study. Foveal retinal layer thickness was determined by two independent readers. A mixed-effect model was used to perform structure–function correlations and predict the BCVA based on subject-specific variables.

Results Most patients (28/33) had altered foveal structure associated with loss of foveal avascular zone and impaired BCVA. However, widening of outer nuclear layer, lengthening of photoreceptor outer segments, normal distribution of macular pigment and presence of Henle fibres were consistently found. Apart from the presence of choroidal effusion, which had significant impact on BCVA, the features age, refractive error, axial length and retinal layer thickness at the foveal centre explained 61.7% of the variability of BCVA.

Conclusion This study demonstrates that choroidal effusion, age, refractive error, axial length and retinal layer thickness are responsible for the majority of interindividual variability of BCVA as well as the morphological foveal heterogeneity in patients with nanophthalmos or posterior microphthalmos. This might give further insights into the physiology of foveal development and the process of emmetropisation, and support clinicians in the assessment of these disease entities.

  • retina
  • imaging
  • macula

Data availability statement

Data are available on reasonable request.

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Data availability statement

Data are available on reasonable request.

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  • Twitter @PhilippLMuller, @dralsaedi

  • Contributors PLM and CE researched literature, conceived the study and gained ethical approval. PLM, ARW, PK, MM, LW, DS, PF, MM, CP, AT and CE were involved in patient recruitment. PLM, TT and AA were involved in data analysis. PLM and TT developed the statistical protocol. PLM wrote the first draft of the manuscript.

  • Funding This work was supported by the German Research Foundation (grant # MU4279/2-1 to PLM), the United Kingdom’s National Institute for Health Research of Health’s Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and UCL Institute of Ophthalmology (support to AT and CE).

  • Disclaimer The views expressed are those of the authors and not necessarily those of the Department of Health.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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