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North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression
  1. Johannes Birtel1,2,3,
  2. Martin Gliem1,2,
  3. Philipp Herrmann3,
  4. Christine Neuhaus4,
  5. Frank G Holz3,
  6. Robert E MacLaren1,2,
  7. Hendrik P N Scholl5,6,
  8. Peter Charbel Issa1,2
  1. 1Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  2. 2Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
  3. 3Department of Ophthalmology, University Hospital Bonn, Bonn, Germany
  4. 4Bioscientia Center for Human Genetics, Bioscientia, Ingelheim, Germany
  5. 5Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
  6. 6Department of Ophthalmology, University of Basel, Basel, Switzerland
  1. Correspondence to Peter Charbel Issa, Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK; study-enquiry{at}outlook.com

Abstract

Background/Aim To provide a comprehensive multimodal retinal imaging characterisation of patients with North Carolina macular dystrophy (NCMD).

Methods Clinical evaluation and retinal imaging in six families.

Results Twenty-one subjects showed phenotypic characteristics of NCMD . Small drusen-like deposits were found in all affected individuals, either tightly grouped in the macula, or surrounding atrophic or fibrotic macular alterations. These small subretinal lesions showed an increased fundus autofluorescence and were associated with only mild irregularities on optical coherence tomography imaging. Similar drusen-like deposits were regularly seen in the peripheral fundus, predominantly temporally and often with a radial distribution. Two patients showed a bilateral chorioretinal atrophy and two had a macular neovascularisation (MNV). Findings from follow-up examinations were available from 11 patients. The retinal phenotype remained overall stable, except for two patients: one patient with atrophy showed a distinct growth of the atrophic lesions on longitudinal AF imaging over a review period of 14 years. One patient with MNV showed a unilateral decline of best-corrected visual acuity. Genetic testing identified the single nucleotide variant chr6:100040987G>C upstream of the PRDM13 gene in all family members with NCMD phenotype.

Conclusion Patients with NCMD show a characteristic retinal phenotype and distribution of drusen that differ from drusen in patients with age-related macular degeneration. Although the prognosis of this developmental condition is overall better than for other macular diseases with drusen, patients may be at risk of developing MNV or enlargement of pre-existing atrophy.

  • genetics
  • macula
  • retina
  • dystrophy

Data availability statement

All data relevant to the study are included in the article and in the supplementary information. Additional information is available from the authors upon reasonable request.

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Data availability statement

All data relevant to the study are included in the article and in the supplementary information. Additional information is available from the authors upon reasonable request.

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Footnotes

  • Contributors Study concept and design: JB and PCI. Acquisition, analysis or interpretation of data: All authors. Drafting of the manuscript: JB and PCI. Critical revision of the manuscript for important intellectual content: MG, PH, CN, FGH, REM and HPNS.

  • Funding This work was supported by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC) and by the Dr Werner Jackstädt Foundation, Wuppertal, Germany (Grant S0134-10.22 to JB).

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

  • Competing interests CN is an employee of Bioscientia, a publicly traded diagnostic company.

  • 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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