Search results (10 results)

Dec 12 2018 by John S. King, MD

66-year-old white male with Gardner Syndrome (colon resection in 1991), who has two children with Gardner Syndrome, presented to Dr. Zocchi with an RD in the fellow eye that was successfully repaired with a pneumatic retinopexy. Currently 20/20 OU with IOP of 7 OD and 14 OS; no RAPD; PCIOL OU. Dr. Zocchi got oral permission by the patient to have these put into the Retina Image Bank. Although the CHRPE like lesions (2 OD) are not bilateral, we both think these lesions represent "retinal pigment epithelial hamartomas associated with familial adenomatous polyposis (RPEH-FAP)" as Shields described in their Intraocular Tumors book. One lesion is located superiorly and is pigmented with depigmented margins; the temporal lesion is atrophic with minimal remaining pigment hypertrophy.

Photographer: Karin Aletter

Imaging device: Optos CA

Condition/keywords: Gardner Syndrome, RPEH-FAP

Dec 12 2018 by John S. King, MD

66-year-old white male with Gardner Syndrome (colon resection in 1991), who has two children with Gardner Syndrome, presented to Dr. Zocchi with an RD in the fellow eye that was successfully repaired with a pneumatic retinopexy. Currently 20/20 OU with IOP of 7 OD and 14 OS; no RAPD; PCIOL OU. Dr. Zocchi got oral permission by the patient to have these put into the Retina Image Bank. Although the CHRPE like lesions (2 OD) are not bilateral, we both think these lesions represent "retinal pigment epithelial hamartomas associated with familial adenomatous polyposis (RPEH-FAP)" as Shields described in their Intraocular Tumors book. One lesion is located superiorly and is pigmented with depigmented margins; the temporal lesion is atrophic with minimal remaining pigment hypertrophy.

Photographer: Karin Aletter

Imaging device: Optos CA

Condition/keywords: Gardner Syndrome, RPEH-FAP

Mar 13 2018 by Olivia Rainey

Ultra-wide field fundus autofluorescence images of a 14-year-old patient with congenital retinal pigment epithelial hypertrophy affecting both eyes as a manifestation of Gardner's Syndrome.

Photographer: Olivia Rainey

Imaging device: Optos

Condition/keywords: bilateral, familial adenomatous polyposis, fundus autofluorescence (FAF), Gardner Syndrome, hypofluorescent lesions, Optos, ultra-wide field imaging

Dec 21 2016 by Tony Tsai, MD, FASRS

9-year-old male with multiple hypertrophic RPE lesions OU characteristic of the kind seen with familial adenomatous polyposis. Genetic testing revealed he was positive for APC mutation. No previously known family history.

Photographer: Reina Hernandez, Retinal Consultants, Sacramento CA

Condition/keywords: Gardner Syndrome

Dec 21 2016 by Tony Tsai, MD, FASRS

9-year-old male with multiple hypertrophic RPE lesions OU characteristic of the kind seen with familial adenomatous polyposis. Genetic testing revealed he was positive for APC mutation. No previously known family history.

Photographer: Reina Hernandez, Retinal Consultants, Sacramento CA

Condition/keywords: Gardner Syndrome

Dec 27 2016 by Elad Moisseiev, MD

A 34-year-old man with bear tracks noted on routine exam. There was no personal or family history of Gardner syndrome or any GI malignancy.

Photographer: Galit Yair-Pur

Condition/keywords: bear tracks

Nov 11 2019 by Jessica Norkus

Bilateral Optos ultra wide field imaging of a 31-year-old female patient with CHRPE lesions. Lesions in OD were suspicious of Gardner Syndrome due to familial history of cancerous polyps in colon. Patient underwent colonoscopy and was deemed clear.

Photographer: Jessica Norkus, COA, Retina Specialists of Michigan

Imaging device: Optos Ultra Wide Field Camera

Condition/keywords: bear tracks, bilateral, color fundus photograph, color photo, congenital hypertrophy of the retinal pigment epithelium (CHRPE), fundus autofluorescence (FAF), fundus photograph, lacunae, macula, optic disc, Optos, pseudocolor, ultra-wide field imaging

Apr 15 2024 by Virginia Gebhart

29 year old male with multiple flat CHRPE lesions, genetic testing negative for ACP genes associated with Gardner syndrome. Multiple intraretinal amelanotic lesions consistent with Benign Lobular Inner Nuclear Layer Proliferations (BLIP) of the retina

Photographer: Virginia Gebhart

Imaging device: Topcon

Condition/keywords: BLIP Benign Lobular Inner Nuclear Layer Proliferations, CHRPE, congenital hypertrophy of the retinal pigment epithelium (CHRPE)

Nov 3 2023 by Virginia Gebhart

43 year-old female with multiple CHRPE lesions consistent with Gardner's Syndrome. Patient had colectomy at age 21. Patient is one of 7 children, 6 had FAP, 3 had colon removal and are alive and well, 3 have passed away from colon cancer. Maternal mother and grandmother also passed away from colon cancer. Patient has 2 children, one son (17) also has Gardner's Syndrome (FAP)

Photographer: Virginia Gebhart

Imaging device: Topcon

Condition/keywords: CHRPE, Gardner Syndrome

Nov 10 2023 by Virginia Gebhart

17-year-old male with multiple pigmented spots most likely related to Gardner's Syndrome. Pt has not been diagnosed with FAP at this time, however pt receives regular screenings. Extensive maternal family hx of FAP syndrome and colon cancer. Pt's mother has FAP, who had colon resection. Pt's 2 aunts, 1 uncle, grandmother and great grandmother all passed from colon cancer. Pt has multiple maternal cousins diagnosed with FAP

Photographer: Virginia Gebhart

Imaging device: Topcon

Condition/keywords: CHRPE, congenital hypertrophy of the retinal pigment epithelium (CHRPE), familial adenomatous polyposis, Gardner Syndrome