Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients

Figures & data

Table 1 Polymorphisms in ARMS2/HTRA1/CFH/C3 genes: genotypes in Japanese patients with retinal angiomatous proliferation

Patient number	Age	Sex	Affected eye	ARMS2	HTRA1	CFH		C3
				rs10490924 (A69S)	rs1120638	rs800292 (I62V)	rs1061170 (Y402H)	rs2230199 (R80G)	rs2241394
1	83	F	Bilateral	TT	AA	AA	TT	CC	CG
2	79	M	Unilateral	TT	AA	AA	CT	CC	CC
3	84	M	Unilateral	TT	AA	AA	TT	CC	CC
4	87	F	Unilateral	TT	AA	AA	CT	CC	CG
5	82	M	Bilateral	TT	AA	AA	TT	CC	CC
6	78	M	Unilateral	TT	AA	AA	TT	CC	CC
7	76	F	Bilateral	TT	AA	AA	TT	CC	CG
8	91	M	Bilateral	TG	AG	AA	TT	CC	CC

Note: Risk alleles are shown in bold.

Abbreviations: M, male; F, female.

Figure 1 Color fundus photographs (A and D), indocyanine green fundus angiographies (B and E), and optical coherence tomography images (C and F) from the right eye (A–C) and the left eye (D–F) of an 83-year-old woman (patient 1).

Notes: We diagnosed her right eye with stage II retinal angiomatous proliferation and her left eye with stage III retinal angiomatous proliferation. (A and D) Fundus image shows intraretinal hemorrhages with a large number of soft drusen and pigment epithelial detachment. (B) Indocyanine green fundus angiographies shows some hotspots. One of them connects retinal vessels (arrow), corresponding to the intraretinal neovascularization. (C) A vertical optical coherence tomography image shows a pigment epithelial detachment, cystoid macular edema, and retinal angiomatous proliferation lesion (arrow). (E) Indocyanine green fundus angiographies shows choroidal neovascularization (arrow) that connects retinal vessels, corresponding to retinal-choroidal anastomosis. (F) A vertical optical coherence tomography image shows a pigment epithelial detachment, cystoid macular edema, and a retinal pigment epithelium line that has ruptured (arrow).

Table 2 Genotype frequency of A69S (ARMS2), I62V (CFH), and Y402h (CFH) polymorphisms in Japanese controls and Japanese patients with retinal angiomatous proliferation

Genotype	rs10490924 (A69S)			rs800292 (I62V)			rs1061170 (Y402H)
	TT	TG	GG	GG	GA	AA	CC	CT	TT
Controls (n=1,351)^Citation26	196 (14.6%)	638 (47.8%)	502 (37.6%)	456 (34.1%)	649 (48.5%)	233 (17.4%)	8 (0.6%)	160 (11.9%)	1,174 (87.5%)
Patients (n=36)^Citation26	31 (86.1%)	3 (8.3%)	2 (5.6%)	20 (55.6%)	11 (30.6%)	5 (13.8%)	0 (0%)	5 (14.3%)	30 (85.7%)
Patients (n=51)^Citation27	39 (76.5%)	10 (19.6%)	2 (3.9%)	29 (56.9%)	20 (39.2%)	2 (3.9%)	ND	ND	ND
Patients (n=8) (in present study)	7 (87.5%)	1 (12.5%)	0 (0%)	0 (0%)	0 (0%)	8 (100%)	0 (0%)	2 (25%)	6 (75%)

Note: Risk alleles are shown in bold.

Abbreviation: ND, not described.

HayashiHYamashiroKGotohNCFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferationInvest Ophthalmol Vis Sci201051115914591920574013

 PubMed Web of Science ®Google Scholar

TanakaKNakayamaTYuzawaMAnalysis of candidate genes for age-related macular degeneration subtypes in the Japanese populationMol Vis2011172751275822065928

 PubMed Web of Science ®Google Scholar