Peripapillary sparing in RDH12-associated Leber congenital amaurosis

Aakriti Garg, Winston Lee, Jesse D. Sengillo, Rando Allikmets, Kartik Garg, Stephen H. Tsang

Research output: Contribution to journalArticle

Abstract

Background: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. Materials and methods: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. Results: Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients. Spectral domain-optical coherence tomography confirmed relative preservation in this area along with retinal thinning and excavation throughout the rest of the macula. LCA was diagnosed based on clinical exam and retinal imaging, and subsequently confirmed with genetic testing. Conclusions: Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.

Original languageEnglish (US)
Pages (from-to)575-579
Number of pages5
JournalOphthalmic genetics
Volume38
Issue number6
DOIs
StatePublished - Nov 2 2017

Keywords

  • Autofluorescence
  • Leber congenital amaurosis
  • RDH12
  • peripapillary sparing
  • spectral domain optical coherence tomography

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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    Garg, A., Lee, W., Sengillo, J. D., Allikmets, R., Garg, K., & Tsang, S. H. (2017). Peripapillary sparing in RDH12-associated Leber congenital amaurosis. Ophthalmic genetics, 38(6), 575-579. https://doi.org/10.1080/13816810.2017.1323339