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Rare disease
CASE REPORT
ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1
  1. Norman Saffra1,
  2. Carly Jane Seidman1,2,
  3. Aleksandr Rakhamimov1,
  4. Stephen H Tsang3
  1. 1 Ophthalmology, Maimonides Medical Center, Brooklyn, New York, USA
  2. 2 Department of Ophthalmology, New York University School of Medicine, New York, New York, USA
  3. 3 Department of Ophthalmology, Columbia University, New York, New York, USA
  1. Correspondence to Dr Norman Saffra, eyesitemd{at}gmail.com

Summary

A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made. The patient was subsequently evaluated with genetic testing that revealed a novel p.P73S:c 217C>T nonsense mutation within the retinitis pigmentosa 1-like-1 (RP1L1) gene. The clinical significance of the identified variation will require further investigation.

  • Macula
  • Retina

https://doi.org/10.1136/bcr-2016-218364

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    Footnotes

    • Contributors NS, CJS, AR and SHT contributed to conception of the manuscript, design, acquisition of data or analysis, interpretation of data, drafting of the article, revising the article critically for important intellectual content and final approval of the version published.

    • Competing interests None declared.

    • Patient consent Obtained.

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