#BEAR TRACKS RETINA MANUAL#

To ensure that all potentially relevant literature was not missed, both abbreviated and non-abbreviated terms and their related synonyms were used. Multiple online databases were searched including Cochrane library, Embase, PubMed and ProQuest. The systematic literature review was completed using a comprehensive search strategy by a single reviewer. These recommendations provide support for the inclusion of ocular examination in a multi-modal approach for efficient, timely FAP assessment in at-risk individuals. Screening recommendations of FAP-associated CHRPE were produced with associated morphological subanalysis of highly specific lesion characteristics. 4 This study presents congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a specific, non-invasive, phenotypical screening marker for early recognition of FAP. Colonic polyposis and CHRPE share a common mutation of the adenomatous polyposis colic (APC) gene, located on chromosome 5q21-22. 3 CHRPE is a congenital hamartoma of the retinal pigment epithelium (RPE), considered the first extracolonic manifestation of FAP. 2 National screening guidelines for FAP currently consist of endoscopic colonic surveillance and gene linkage analysis. Currently there is no dependable haematological or biochemical serum marker identified that can reliably detect FAP in at-risk individuals. 1 Since FAP can be fatal if left untreated, early detection and diagnosis in gene carriers and at-risk individuals is vital. Keywords: genetic disease, congenital anomalies, retinal examination, screeningįamilial adenomatous polyposis (FAP) is an inherited, highly penetrant genetic condition predisposing to an almost 100% colorectal cancer risk. We would advocate inclusion of ocular examinations as part of a three-pronged approach, along with endoscopy and genetic testing, for efficient, timely FAP assessment in at-risk individuals. Our screening recommendations provide guidance to clinicians on evidence based CHRPE assessment. The absence of CHRPE alone cannot exclude FAP. Clinical recognition further allows increased gene analysis efficiency. Bilateralism and multiple lesion number ≥ 3 are features highly specific for FAP.Ĭonclusion: CHRPE was found to be a non-invasive, rapid, early phenotypical screening marker of FAP. The mean prevalence of CHRPE amongst FAP participants at-risk participants were found to be 76% (SD 24) and 37% (SD 21) respectively. The mean specificity of CHRPE as a phenotypical screening marker of FAP was 89% (standard deviation (SD) 14) with a mean sensitivity of 79% (SD 8). Results: Almost 4500 participants were analysed across 28 included studies.

Studies meeting inclusion criteria were graded with respect to their hierarchy of evidence and strength of recommendations according to the National Health and Medical Research Council (NHMRC) guidelines of Australia.

#BEAR TRACKS RETINA MANUAL#

Manual searches of bibliographies and reference lists were also performed. Methods: A systematic literature review with a comprehensive search strategy was conducted using online databases. Screening recommendations including morphological subclassification were formulated with supporting literature. This study presents congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a highly specific phenotypical marker for FAP that can be used in screening at-risk individuals. Purpose: Familial adenomatous polyposis (FAP) has an almost 100% colorectal cancer risk warranting early detection in gene carriers.

University of Sydney, Sydney, New South Wales, AustraliaĬorrespondence: Louis Antoine Bonnet, 83 Western Line, RD1, Whanganui, 4571, New Zealand, Tel +64 0273947946, Email Louis Antoine Bonnet, R Max Conway, Li-Anne Lim

Bear tracks retina