- Central retinal artery occlusion (HP:0025342): Blockage of the main artery in the retina. In the acute phase, the fundus may show cherry red spot and stasis of retinal flow. The typical presentation is one of profound monocular visual loss. Evidence: TAS. (OMIM:107320)
- Retinal vasculitis (HP:0025188): Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. It can affect veins, arteries or both. Evidence: TAS. (OMIM:107320)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. (OMIM:107320)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. (OMIM:107320)
- Iritis (HP:0001101): Inflammation of the iris. Evidence: TAS. (OMIM:107320)
- Arterial thrombosis (HP:0004420): The formation of a blood clot inside an artery. Evidence: IEA. (OMIM:107320)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: IEA. (OMIM:107320)
- Lupus anticoagulant (HP:0025343): Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. Evidence: IEA. (OMIM:107320)
- Vitritis (HP:0011531): Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. Evidence: TAS. (OMIM:107320)
- Scleritis (HP:0100532): Inflammation of the sclera. Evidence: IEA. (OMIM:107320)
- Venous thrombosis (HP:0004936): Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. Evidence: IEA. (OMIM:107320)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: IEA. (OMIM:107320)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:107320)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. (OMIM:107320)
These phenotypes are associated with the disease familial antiphospholipid syndrome (OMIM:107320).