Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view

Kirk Packo, Morton F. Goldberg

Research output: Contribution to journalReview articlepeer-review

Abstract

Background: The coexistence of fundus torpedoes and Gardner syndrome was initially reported in 1989 and 1992 by Gass and Roseman. Gardner syndrome is a dominantly inherited disease characterized by a multitude of potentially lethal gastrointestinal polyps. Over the ensuing quarter century, several publications demonstrated uncommon, but easily recognized, fundus lesions called Torpedo Maculopathy in apparently normal individuals. These fundus abnormalities were thought to be single and isolated without systemic associations. During the same period of time, a variety of nonspecific fundus abnormalities were described in Gardner syndrome, which, in retrospect, included highly specific lesions that closely resembled macular torpedoes and sometimes were indistinguishable from them. Patient and methods: We now report a confirmed case of Gardner syndrome with numerous fundus torpedoes, and carefully analyze the voluminous literature of both Gardner syndrome and Torpedo Maculopathy. Results: We demonstrate shared features of the fundus lesions in both diseases, and hypothesize that they may have genetic as well as ophthalmoscopic similarities in common. Conclusions: We therefore recommend that individuals with classic isolated torpedoes undergo evaluations for mutations in the Gardner gene (Adenomatous polyposis coli) and for the presence of gastrointestinal polyps and other systemic features of Gardner syndrome. We also suggest that apparently normal individuals, who are genetically related to patients with known classic torpedoes, undergo inspection of their fundi for the possible presence of characteristic lesions.

Original languageEnglish (US)
JournalOphthalmic genetics
DOIs
StateAccepted/In press - 2021

Keywords

  • APC gene (Adenomatous Polyposis Coli)
  • CHRPE
  • colonic cancer
  • colonic polyps
  • Congenital Hypertrophy of the Retinal Pigment Epithelium
  • Familial Adenomatous Polyposis
  • focal choroidal excavations
  • fundi
  • Gardner syndrome
  • Torpedo Maculopathy

ASJC Scopus subject areas

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

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