Congenital focal abnormalities of the retina and retinal pigment epithelium

Retinal Pigment Epithelial Lesions Associated With a Sporadic Case of Familial Adenomatous Polyposis

“…Unless they occur in the macula, they do not cause symptoms. 3 The lesions have no malignant potential.…”

“…Several studies have shown multiple pigmented fundus lesions to be a sensitive and specific marker of FAP in at-risk family members of FAP patients. 3,6,8 The important point to remember, however, is that 20% to 30% of FAP families do not have fundus lesions, so the absence of lesions does not rule out the disease in a patient with a family history of FAP, unless the other family members with FAP are known to have pigmented RPE lesions as a part of their phenotype. 3 The other scenario when the clinician may encounter the RPE lesions of FAP is when asked to evaluate pigmented fundus lesions of unknown etiology, which will often have been incidentally discovered and subsequently referred, as in the case presented here.…”

“…3,6,8 The important point to remember, however, is that 20% to 30% of FAP families do not have fundus lesions, so the absence of lesions does not rule out the disease in a patient with a family history of FAP, unless the other family members with FAP are known to have pigmented RPE lesions as a part of their phenotype. 3 The other scenario when the clinician may encounter the RPE lesions of FAP is when asked to evaluate pigmented fundus lesions of unknown etiology, which will often have been incidentally discovered and subsequently referred, as in the case presented here. In this scenario, it is of great importance for the clinician to be very familiar with the characteristic clinical features of the fundus lesions, as FAP is a lifethreatening disease and early detection and appropriate referral is of utmost importance.…”

“…11 Occasionally, the lesions are white in color, in which case they are referred to as congenital albinotic spots of the RPE, or “polar bear tracks” (Figure 4B). 3 Neither solitary CHRPE or congenital grouped pigmentation of the RPE have been associated with FAP.…”

Ocular imaging at the cutting-edge

“…The use of multimodal imaging with OCT, OCTA, FA, indocyanine green angiography (ICGA) and fundus autofluorescence (FAF) has greatly enhanced our ability to evaluate posterior segment diseases. In the article by Liu and Moore [6], the recent findings on congenital focal abnormalities of the retina and retinal pigment epithelium were discussed. SD-OCT and FAF enabled better characterisation of these developmental lesions in vivo.…”