Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition

Abstract

Polypoidal choroidal vasculopathy (PCV) is currently recognized as a phenotype of age-related macular degeneration (AMD). PCV is believed to be a type of choroidal neovascularization, although some cases of PCV show a distinct vascular abnormality of the choroidal vessels. PCV often shows several unique clinical manifestations which are apparently different from typical neovascular AMD (tAMD). In addition, the natural course and response to treatment are often different between tAMD and PCV. Moreover, recent genetic studies suggested a possible difference in the genetic susceptibility to disease between tAMD and PCV, as well as the existence of heterogeneity among PCV cases. In viewing the accumulation of knowledge about PCV, we have summarized the recent literature regarding PCV in this review article to improve the understanding of this clinical entity including possible susceptibility genes. We will also discuss the optimal treatment strategies for PCV in accordance with the results of recent clinical and genetic studies.

Genomic aspects of age-related macular degeneration

“…PCV was initially 165 considered a distinct abnormality of the choroidal vasculature 166 found in the peripapillary area. Currently PCV is considered a sub-167 type involved in wet AMD [26]. The prevelance of PCV in Asians is 168 higher than that in Caucasians.…”

Comparison of the 12-Month Outcomes of Intravitreal Ranibizumab between Two Angiographic Subtypes of Polypoidal Choroidal Vasculopathy

“…In contrast, single nucleotide polymorphism at rs868005 in the elastin gene was only associated with type 2 PCV and not with type 1 PCV [23] . Those results indicate the existence of a different genetic background between these 2 angiographic subtypes of PCV, and type 1 PCV is genetically closer to typical neovascular AMD [22,24,25] , which may be a reason that type 1 PCV showed similar outcomes of IVR to those of typical neovascular AMD, and type 2 PCV might be a distinct phenotype which is less susceptible to IVR. We considered the reasons why previous studies often documented that typical neovascular AMD showed better outcomes of anti-VEGF therapies than PCV and hypothesized that the inclusion of type 2 PCV cases in those studies might influence their results.…”

Polypoidal choroidal vasculopathy

“…Autorzy badania EVEREST zaproponowali kryteria rozpoznawania PCV (35): obecność wczesnej ogniskowej podsiatkówkowej hiperluminesencji w ICGA (pojawiającej się w czasie 6 minut od podania dożylnie zieleni indocyjaninowej) oraz spełnienie co najmniej jednego z następujących kryteriów: a. guzkowaty (uniesiony) wygląd polipów w badaniu stereoskopowym, b. hypoluminesencyjne "halo" wokół polipowatych zmian, c. obecność BVN z tętniakowatymi poszerzeniami w końcowych odcinkach, d. pulsacyjne wypełnianie polipów w trakcie dynamicznej ICGA, e. pomarańczowe podsiatkówkowe guzki odpowiadające obszarom hiperluminesencji w ICGA, f. obecność rozległego krwotoku podplamkowego (o wielkości nie mniejszej niż 4 wielkości tarczy). Na podstawie obrazu ICGA wprowadzono podział zmian PCV na dwa typy (36,37): typ 1.…”