Binocular ischemic retinopathy in a patient suffering from a pro-coagulant state with Fribrinogen B and MTHFR677 hetercigote mutations. Case report.

Author: Carlos Alberto Idrobo (Ecuador)

Co-authors: Carlos-Alberto Idrobo-Robalino, Carelys Suescum-Coelho, Ana-Cristina Perez - Koller, Andrés Rodriguez-Borja

Purpose

To describe a case of multiple organ disease in a patient suffering of Fribrinogen B and MTHFR677 hetercigote mutations, with important ocular alterations.

Setting/Venue

¬Hospital Eugenio Espejo and Hospital Metropolitano. Quito - Ecuador

Methods

Clinical records and multi modal evaluations included: complete ophthalmologic examination, optometric evaluation, corneal topography, macular and optic nerve optical coherence tomography, anterior segment photograph, fundus pictures, and others. Genetic testing and hematologic evaluation together with additional examinations were performed. Informed consent for case publication was obtained from patient and Helsinki declaration principles were followed.

Results

A 51 year old patient, in whom primary ocular findings included: pigmentary glaucoma, cataract, and retinal ischemic changes in both eyes, with vitreous hemorrhage in his left eye. General medical evaluation demonstrated: history of stroke, epilepsy, procoagulant state, polycystic kidney with preserved renal function. No signs of aortic or carotid artery disease were found. Genetic tests were positive for Fribrinogen B and MTHFR677 hetercigote mutations,

Conlusions

Pro coagulant states may induce important ocular and retinal damage. Non-explained retinal vascular occlusion must be thoroughly evaluated with the help of a multidisciplinary team.

Financial Disclosure

none