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Treatment strategies and long-term outcomes in patients with congenital microphthalmia–anophthalmia with cyst
  1. Sri Gore1,2,
  2. Gabriela Grimaldi2,3,
  3. Giacomilde Mazzone2,
  4. Richard Collin3,
  5. Gustavo Savino4,
  6. Mario Pagnoni5,
  7. Alessandra Modugno2
  1. 1Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK
  2. 2Department of Ophthalmology, Ocularistica Italiana, Rome, Italy
  3. 3Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK
  4. 4Opthalmology, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Roma, Italy
  5. 5Department of Maxillo-facial surgery, Your Face Surgery Villa Parioli Clinic, Rome, Italy
  1. Correspondence to Sri Gore, Ophthalmology, Great Ormond Street Hospital for Children, London, UK; s.gore{at}nhs.net

Abstract

Background/Aims Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential to deform the periocular tissues. This study aims to illustrate the long-term outcomes when other elements, such as forniceal and lid development, are also considered when formulating bespoke treatment plans for patients.

Methods Retrospective case series of 78 patients attending a single prosthetics clinic between 1988 and 2020. Clinical and surgical notes, radiological imaging, clinical photographs and patient/doctor satisfaction questionnaires were used to report patient outcomes and natural history data.

Results 89 sockets of 78 patients (11 bilateral) were included; average age of presentation being 2.8 years (9 days to 29.5 years). Cysts were clinically detected (48%) or were incidental findings (52%). The mean follow-up time was 7.2 years (6 months to 28 years). Cysts in 46% of sockets underwent surgical excision while the remainder were retained. Satisfaction surveys were obtained for 75 patients, with cosmetic outcomes rated as ‘excellent’ or ‘good’ in 90% of cases by physicians and 97% of cases by patients or guardians.

Conclusion The favourable long-term outcomes in this study have resulted from bespoke plans which considered periocular tissue development, regional orbital growth and orbital volume replacement. The authors contemplate cyst excision if the prosthetic fitting or retention is impeded by the cyst as this often heralds the increased risk of long-term periocular distortion.

  • child health (paediatrics)
  • eye lids
  • orbit
  • prosthesis
  • rehabilitation

Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

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Footnotes

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  • Contributors SG and AM contributed to the conception and design of the work. AM is the guarantor.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • 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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