Cumulative visual impact of two coagulability disorders: A case report

Abstract

Cumulative visual impact of two coagulability disorders were reviewed by presenting a case of a young female patient with a spontaneous abortion and two thromboembolic events in 8 years, whose visual function was severely affected. The particularities of her genetic constellation regarding the retinal circulation are also discussed. The patient developed a central retinal artery occlusion in the right eye during pregnancy in 2010, which led to an extended hematological workup that revealed presence of MTHFR C677T and MTHFR A1298C heterozygote mutations. The screening for myeloproliferative disorders showed JAK2 V617F gene mutation. Test results confirmed the diagnosis of thrombophilia and essential thrombocythemia and she was recommended permanent treatment with low molecular weight heparin, platelet antiaggregant, peripheral vasodilator and neuroprotectors. Despite the treatment, the patient developed central retinal vein occlusion in the fellow eye 8 years after the first thromboembolic event. The visual acuity for the right eye (0.9 logMAR) remained poor and the visual acuity for the left eye recovered completely (from 0.3 logMAR to 0 logMAR). However, new retinal artery or vein occlusions could occur in the future and there is also a risk of thrombosis in other areas, such as cerebral, pulmonary or renal, due to the general coagulability imbalance.

Papillophlebitis Associated With Coexisting Heterozygous Mutations of Factor V Leiden and Methylenetetrahydrofolate Reductase Enzyme-(C677T)

“…Visual acuity is moderately reduced exhibiting a painless and commonly unilateral pattern [ 1 , 2 ]. Papillary edema is prominent without macular involvement and retinal hemorrhages are located within the peripapillary area counting out all quadrants typically seen in CRVO [ 7 ]. Orbital pain is not considered a typical symptom, since there is no known pathophysiological correlation with papillophlebitis.…”

Challenges of Secondary Glaucoma Management Following Congenital Cataract Surgery, Penetrating Keratoplasty and Vitreoretinal Surgery

“…Glaucoma is the leading cause of irreversible visual loss and the second most common cause of blindness, leading to a huge burden worldwide [4,5]. Congenital glaucoma commonly occurs among communities that encourage consanguinity and may be classified as primary (without any ocular or systemic developmental anomalies) or secondary congenital glaucoma (accompanied by other pathologies) [6][7][8]. It is characterized by retinal progression loss of ganglion cells, which leads to changes in the optic nerve head and visual field defects, affecting visual quality of life [9].…”

Ophthalmic Vein Thrombosis Associated with Factor V Leiden and MTHFR Mutations

“…Regarding arterial occlusions, the connection between these events and the mutations of Factor V Leiden and MTHFR are still controversial. However, the presence of coagulation disorders should be suspected especially in young people [ 18 ] and cases where their simultaneous presence was proved were documented in the specialized literature [ 19 , 20 ].…”