Combined Left Central Retinal Artery Occlusion and Bilateral Anterior Ischemic Optic Neuritis: A Rare Presentation of Giant Cell Arteritis.

Giant cell arteritis, a large vessel vasculitis is characterized by headache, visual impairment, constitutional symptoms, and increased inflammatory markers. Visual involvement in giant cell arteritis ranges from amaurosis fugax to permanent visual loss, and extensive bilateral visual impairment is a rare presentation. We hereby report a case of combined left central retinal artery occlusion and bilateral anterior ischemic optic neuritis in a patient who poorly responded to standard corticosteroid therapy.

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.

Background: Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease. This is the first report of a heterozygous GATA3 whole gene deletion causing HDR syndrome in a Sri Lankan family.