Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view. 2021

Kirk Packo, and Morton F Goldberg
Department of Ophthalmology, Rush University Medical Center, Chicago, Illinois, USA.

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.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D012164 Retinal Diseases Diseases involving the RETINA. Disease, Retinal,Diseases, Retinal,Retinal Disease
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005654 Fundus Oculi The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed) Fundus of the Eye,Ocular Fundus,Fundus, Ocular
D005736 Gardner Syndrome A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract. Gardner's Syndrome,Gardner Syndromes,Gardner's Syndromes,Gardners Syndrome,Syndrome, Gardner,Syndrome, Gardner's,Syndromes, Gardner,Syndromes, Gardner's
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D055213 Retinal Pigment Epithelium The single layer of pigment-containing epithelial cells in the RETINA, situated closely to the tips (outer segments) of the RETINAL PHOTORECEPTOR CELLS. These epithelial cells are macroglia that perform essential functions for the photoreceptor cells, such as in nutrient transport, phagocytosis of the shed photoreceptor membranes, and ensuring retinal attachment. Epithelium, Retinal Pigment,Pigment Epithelium, Retinal
D025601 Adenomatous Polyposis Coli Protein A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.

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