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Long-term vision outcomes for patients with albinism and diabetic retinopathy

  • Retinal Disorders
  • Published:
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Abstract

Purpose

Albinism defines a group of genetic diseases which result from disordered melanin biosynthesis. Proliferative diabetic retinopathy (PDR) results from poorly controlled type 1 or 2 diabetes mellitus (DM) and can lead to blindness due to progressive neovascularisation. However, the treatment of PDR in patients with ocular/oculocutaneous albinism may be more challenging. In this study, we compared a group of patients with albinism and PDR, to a group with albinism and diabetes mellitus but no PDR, to examine the long-term implications.

Methods

Retrospective observational study included all patients with ocular albinism (OA) or oculocutaneous albinism (OCA) and DM who presented at a single specialist centre. Participants were allocated into either group 1 (eyes with PDR) or group 2 (all eyes without PDR). Statistical analysis was performed using SPSS V26.0. Between-group differences were investigated.

Results

Outcome data was available for 5 eyes from 3 participants in group 1 and 26 eyes from 13 participants in group 2. Despite interventions, a large and significant difference in vision at follow-up was observed between group 1 and group 2 (mean change in visual acuity: 1.11 (± 1.00) versus − 0.15 (± 0.46), respectively; p =  < 0.0001).

Conclusion

PDR is associated with poor long-term prognosis despite interventions for patients with albinism. Those without PDR appear to maintain stable vision. Alternative treatments for PDR and its complications may be required in this population. Measures to prevent the development of diabetic eye disease and progression towards PDR should be employed at an early stage.

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Data availability

Data may be made available upon request from the corresponding author.

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Funding

This study was supported by a grant from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology.

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Authors and Affiliations

  1. Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK

    Declan C. Murphy, Mohamed Katta, Catherine A. Egan, Michel Michaelides & Louisa Wickham

  2. Institute of Genetic Medicine, Newcastle University, Tyne and Wear, UK

    Declan C. Murphy

  3. Northumbria Healthcare NHS Foundation Trust, Tyne and Wear, UK

    Declan C. Murphy

  4. UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK

    Catherine A. Egan & Michel Michaelides

Authors
  1. Declan C. Murphy
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Contributions

Authors’ name

Research design

Data acquisition and or research execution

Data analysis and/or interpretation

Manuscript preparation

Approved final manuscript

Declan C. Murphy

Yes

Yes

Yes

Yes

Yes

Mohamed Katta

Yes

Yes

 

Yes

Yes

Louisa Wickham

Yes

Yes

 

Yes

Yes

Michel Michaelides

Yes

Yes

 

Yes

Yes

Catherine Egan

   

Yes

Yes

Corresponding author

Correspondence to Louisa Wickham.

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Not required because this is a retrospective study using data collected as part of the patient’s routine clinical care.

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Not required because this is a retrospective study using data collected as part of the patient’s routine clinical care.

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Not required because this is a retrospective study using data collected as part of the patient’s routine clinical care.

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The authors declare no competing interests.

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Murphy, D.C., Katta, M., Egan, C.A. et al. Long-term vision outcomes for patients with albinism and diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol 260, 2165–2173 (2022). https://doi.org/10.1007/s00417-021-05313-x

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  • DOI: https://doi.org/10.1007/s00417-021-05313-x

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