Abstract:
Introduction: Thalassemias are a group of genetic disorders characterized by a reduced synthesis of alpha or beta chains of hemoglobin (Hb). Hemoglobin, the oxygen-carrying component of red blood cells, consists of two proteins: alpha and beta. When the body does not produce enough of either protein, red blood cells form incorrectly and cannot carry sufficient oxygen, leading to anemia that starts in early childhood and persists throughout life.
Materials and Methods: A 13-year-old female was admitted with complaints of low vision, pain, redness (OU VA 20/400, BCVA 20/200, IOP OU -13 mmHg with GT) to the Cornea-Uveitis department at the S V Malayan Eye Center. The patient was referred by a pediatrician /hematologist. Two months ago, she was diagnosed Hb S beta thalassemia, which was accompanied by sudden vision loss. Two -month treatment. topical steroids eye drops q. i. d., cycloplegic eye drops t.i.d., no positive dynamics were observed. At the ocular examination, her BCVA 20/200 in both eyes. The patient was complaining of blurred vision in both eyes. On examination, she had granulomatous KPs on the lower surface of the cornea, 3+ cells in the anterior chamber, 2+ cells in the vitreous, optic disk hyperemia and swelling (obscuration of the nasal border of the disc.). All possible laboratory tests (ACE, RF, HLA -B27, HLA-B51, ANA, ANCA, Syphilis serology, HSV, VZV, CMV, Radiologic testing) were performed to diagnose uveitis, none of them were positive. Visual field (formal/ typically automated) testing and optical coherence tomography were performed and Stage-1 Early Papilledema was diagnosed. At the same time, under the supervision of a hematologist, prescribed topical steroids eye drops., cycloplegic eye drops every 2 hours, with multiple subtenon injections of Diprospan 1.0 (Betamethasone). Positive dynamics were observed after two weeks, and an excellent result was recorded after one month: uveitis remission, the patient BCVA was 20/20.Papilledema remained relatively stable (slight positive dynamics were observed in the layer of peripapillary nerve fibers).
Discussion: Our case report demonstrates a rare case of presumed Thalassemia associated bilateral acute anterior uveitis associated with papilledema in a 13 -year-old girl.The presence of papilledema was due to Thalassemia disease, and the presence of uveitis remains unexplained or can be not related .Considering our results, we aim to keep this case under dynamic control and report on further development, as conservative treatment (intravitreal injections, topical steroids, and cycloplegic drops) resulted in uveitis remission, but papilledema remained stable.
