Congenital hypertrophy of the retinal pigment epithelium in Gardnerís syndrome
Mina Laghmari, Omar Lezrek
The Pan African Medical Journal. 2014;19:164. doi:10.11604/pamj.2014.19.164.4518

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Congenital hypertrophy of the retinal pigment epithelium in Gardnerís syndrome

Cite this: The Pan African Medical Journal. 2014;19:164. doi:10.11604/pamj.2014.19.164.4518

Received: 03/05/2014 - Accepted: 12/10/2014 - Published: 17/10/2014

Key words: Hypertrophy, retinal pigment epithelium, Gardner´s syndrome

© Mina Laghmari et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Available online at: http://www.panafrican-med-journal.com/content/article/19/164/full

Corresponding author: Mina Laghmari, University Mohammed V Souissi, Faculty of Medicine and Pharmacy, Rabat, Morocco (laghmarii@yahoo.fr)


Congenital hypertrophy of the retinal pigment epithelium in Gardnerís syndrome

 

Mina Laghmari1,&, Omar Lezrek1

 

1University Mohammed V Souissi, Faculty of Medicine and Pharmacy, Rabat, Moroco

 

 

&Corresponding author
Mina Laghmari, University Mohammed V Souissi, Faculty of Medicine and Pharmacy, Rabat, Morocco

 

 

Image in medicine

A 20-year-old woman presented for a routine eye examination. Her best-corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. Fundus examination revealed in both eyes the presence of multiple egg-shaped hyperpigmented retinal lesions (at least 4), sur-rounded by a depigmented halo(figure 1, black arrows). The appearance of these lesions was suggestive of congenital hypertrophy of the retinal pigment epithelium (CHRPE). The patient's medical history and general examination were unremarkable but her family history was pertinent for familial adenomatous polyposis (FAP) in a sister and colon cancer in her mother. The patient underwent colonoscopy and she found to have adenomatous polyps consistent with the diagnosis of Gadner's syndrome (GS). She then was scheduled for bi-yearly screening colonoscopy. CHRPE are congenital hamartomas of retinal pigment epithelium. They can occur as solitary or multiple, they may be found in the normal population and are usually observed during routine ophthalmos copy. Multiple or bilateral CHRPE may occur in Familial Adenomatous Polyposis (FAP), an autosomal dominant disease caused by mutations in the adenomatous polyposis coli (APC) gene. This entity is termed Gadner's syndrome which include prominent intestinal lesions and extracolonic manifestations such as osteomas, skin tumors, supernumerary teeth, desmoid tumor and CHRPE. Colorectal examination is crucial for early intervention and treatment, as the colon polyps progress to malignancy in nearly 100% of cases. Multiple and bilateral CHRPE in FAP is considered a clinical disease marker. However, the absence of CHRPE has no predictive value for absence of GS or FAP.

 

Figure 1: fundus photomontage: multiple egg-shaped hyperpigmented retinal lesions sur-rounded by a depigmented halo (black arrows)

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 


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