Zahid Salman, Iqbal Mustafa, Ubaid Aamer, Khan Fahad
Department of Ophthalmology, Khyber Teaching Hospital, Peshawar, Pakistan.
Department of Ophthalmology, Khyber Teaching Hospital, Peshawar.
J Pak Med Assoc. 2020 Jul;70(7):1263-1265. doi: 10.5455/JPMA.23704.
Central retinal artery occlusion (CRAO) is one of the causes of sudden loss of vision. Homocystinuria is an autosomal recessive inherited disorder and is characterized by increased levels of homocysteine in the urine and blood. We present a case of homocyistinuria in a 14-year girl, presenting as CRAO with a family history of vascular thrombotic events. The patient did not have any local predisposing factors or prior history of thromboembolic episodes. Left eye fundus examination revealed a pale retina with sparing of cilioretinal artery. On examination Visual acuity of the right eye was 6/6 and left eye was completely blind with no perception of light. Homocysteine level on admission was 34.60umol/l. Patient was started on Rivaroxaban 10mg, Vitamin B6 , Vitamin B12 and folic acid. On follow up examination after 2 months the visual acuity in the left eye was 6/9. The dramatic improvement in the visual acuity can be attributed to the sparing of the cilioretinal artery. Followup Homocysteine levels after two months of treatment was 12umol/l. Ophthalmologist should be aware of this rare manifestation of homocystinuria as CRAO as they can play an important role of diagnosing the underlying medical illness.
视网膜中央动脉阻塞（CRAO）是导致突然失明的原因之一。同型胱氨酸尿症是一种常染色体隐性遗传性疾病，其特征是尿液和血液中的同型半胱氨酸水平升高。我们报告一例14岁女孩的同型胱氨酸尿症，表现为CRAO，并有血管血栓形成事件的家族史。该患者没有任何局部诱发因素或血栓栓塞发作的既往史。左眼眼底检查显示视网膜苍白，睫状视网膜动脉未受累。检查发现右眼视力为6/6，左眼完全失明，无光感。入院时同型半胱氨酸水平为34.60umol/l。患者开始服用利伐沙班10mg、维生素B6、维生素B12和叶酸。2个月后随访检查，左眼视力为6/9。视力的显著改善可归因于睫状视网膜动脉未受累。治疗2个月后的随访同型半胱氨酸水平为12umol/l。眼科医生应意识到同型胱氨酸尿症作为CRAO的这种罕见表现，因为他们在诊断潜在疾病方面可以发挥重要作用。
