Diagnostic ramifications of ocular vascular occlusion as a first thrombotic event associated with factor V Leiden and prothrombin gene heterozygosity

Figures & data

Figure 1 Thrombophilia in 191 patients with ocular vein occlusion (19 branch, 172 central) compared to 110 healthy normal controls without ocular venous or arterial thrombi.

Notes: The seven thrombophilias included FVL, PTG, free protein S, homocysteine, factor VIII, factor XI, and ACLA IgM.
Abbreviations: FVL, factor V Leiden; PTG, prothrombin gene; free S, free protein S; ACLA IgM, anticardiolipin antibody immunoglobulin M.

Figure 2 Thrombophilia in 74 patients with ocular arterial occlusion (23 with central retinal artery occlusion, 32 with amaurosis fugax, and 19 with nonarteritic anterior ischemic optic neuropathy) compared to 110 healthy normal controls without ocular venous or arterial thrombi.

Notes: The seven thrombophilias included FVL, PTG, free protein S, homocysteine, factor VIII, factor XI, and ACLA IgM. ¹Central retinal thrombosis (n=23), amaurosis fugax (n=32) and nonarteritic anterior isochemic optic neuropathy (n=19).
Abbreviations: FVL, factor V Leiden; PTG, prothrombin gene; free S, free protein S; ACLA IgM, anticardiolipin antibody immunoglobulin M.

Table 1 Characteristics of 29 patients with ocular vascular occlusion with FVL or PTG G20210A variant

Serial number	Sex	Age (years)	Type of occlusion	FVL	PTG	First thrombotic event?#	Other thrombotic events?$	Known family history of thrombosis?†	Visual outcome in given eye?	Estrogen/testosterone/clomiphene use?‡
FVL
1	Male	33	RAO	Yes	No	Yes		No	Decreased	No
2	Male	72	CRVO	Yes	No	Yes		No	No follow-up	No
3	Male	55	CRVO	Yes	No	No (DVT)		Yes	No change	No
4	Male	64	NA-AION	Yes	No	Yes		No	Decreased	No
5	Male	50	CRVO	Yes	No	Yes		No	Blind	No
6	Male	41	CRVO	Yes	No	Yes		No	No follow-up	No
7	Male	43	CRVO	Yes	No	Yes		No	No follow-up	No
8	Female	52	AF	Yes	No	Yes	Miscarriages	Yes	No change	No
9	Female	68	CRVO	Yes	No	Yes	Miscarriages	No	Decreased	No
10	Female	38	CRVO	Yes	No	Yes	Miscarriages	Yes	No change	Clomiphene
11	Female	69	CRVO	Yes	No	Yes	AVN, miscarriage	No	Blind	No
12	Female	52	CRVO	Yes	No	Yes		Yes	Decreased	No
13	Female	60	CRVO	Yes	No	Yes		Yes	No change	Estrogen
14	Female	54	CRVO	Yes	No	Yes		No	No change	Estrogen
15	Female	45	RAO	Yes	No	Yes	Miscarriages	No	Decreased	No
16	Female	25	CRVO	Yes	No	Yes	Multifocal ON	No	Decreased	Estrogen
PTG
1	Male	69	NA-AION	No	Yes	Yes	Stroke	Yes	Decreased	No
2	Male	68	AF	No	Yes	No (DVT)		Yes	Blind	No
3	Male	59	CRVO	No	Yes	Yes		No	Decreased	Testosterone
4	Male	50	NA-AION	No	Yes	Yes	TIA	Yes	No change	No
5	Male	29	RAO	No	Yes	Yes		No	No follow-up	No
6	Female	63	BRVO	No	Yes	Yes		Yes	Decreased	No
7	Female	58	CRVO	No	Yes	Yes		No	Decreased	No
8	Female	82	CRVO	No	Yes	Yes		No	Blind	No
9	Female	16	CRVO	No	Yes	Yes		Yes	Decreased	No
10§	Female	77 80	RAO CRVO	No	Yes	Yes	Miscarriages	No	Blind No change	Estrogen Estrogen
11	Female	75	NA-AION	No	Yes	No (DVT)	Ischemic colitis	No	Decreased	Estrogen
12	Female	56	NA-AION	No	Yes	No (DVT-PE)	AVN	Yes	Blind	No
FVL + PTG
1	Female	73	BRVO	Yes	Yes	No (DVT)	Miscarriages	No	Decreased	No

Notes:

# First thrombotic event in patient, defined as no previous DVT or PE.

$ Other thrombotic events in patient, defined as events likely resulting from a hypercoagulable state other than DVT or PE, such as miscarriages, AVN, multifocal ON, stroke, or ischemic colitis.

† Known family history of thrombosis, defined as an immediate family member with previous DVT or PE.

‡ Use of estrogen, clomiphene, or testosterone therapy at the time of ocular event.

§ One patient with PTG mutation with two separate ocular events, RAO at the age of 77 years in the left eye and RVO at the age of 80 years in the right eye.

Abbreviations: AF, amaurosis fugax; AVN, avascular necrosis; BRVO, branch retinal vein occlusion; CRVO, central retinal vein occlusion; DVT, deep venous thrombosis; FVL, factor V Leiden; NA-AION, nonarteritic anterior ischemic optic neuropathy; ON, osteonecrosis; PE, pulmonary embolism; PTG, prothrombin gene; RAO, retinal artery occlusion; RVO, retinal vein occlusion; TIA, transient ischemic attack.