Miraftabi Arezoo, Zand Amin, Abri Aghdam Kaveh
Department of Ophthalmology, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, IRN.
Cureus. 2021 Apr 23;13(4):e14655. doi: 10.7759/cureus.14655.
Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine beta-synthase with autosomal recessive inheritance. Clinically it is characterized by lens subluxation, skeletal abnormalities, and thromboembolic accidents. We present a 6-year-old boy who was a known case of homocystinuria. The patient had a previous history of thrombotic cerebrovascular infarction at the age of 3. He had mild and vague pain in the left eye two weeks before presentation without being exposed to trauma. Ophthalmic examination revealed the dislocation of the crystalline lens into the anterior chamber with diffuse corneal stromal edema in the affected eye. The patient was treated with topical atropine and betamethasone eye drops, but due to the corneo-lenticular contact and corneal edema, he underwent lens extraction and placement of iris-fixated intraocular lens after 48 hours. Corneal edema exhibited improvement at follow-up visits. Early age onset and unilateral complete lens dislocation to the anterior chamber in the absence of a history of trauma is a less common presentation of homocystinuria. In patients with systemic diseases including homocystinuria that cause zonulysis, lens dislocation is usually symmetric and bilateral. Nevertheless, in unilateral cases especially in those who did not have any history of trauma, evaluation for systemic diseases like homocystinuria is necessary for early diagnosis and prevention from other systemic involvements.
同型胱氨酸尿症是一种由胱硫醚β-合酶缺乏引起的常染色体隐性遗传代谢紊乱疾病。临床上,其特征为晶状体半脱位、骨骼异常和血栓栓塞事件。我们报告一名6岁男孩,他是已知的同型胱氨酸尿症患者。该患者在3岁时曾有过血栓性脑血管梗死病史。就诊前两周,他左眼出现轻微隐痛,未受过外伤。眼科检查发现患眼晶状体脱位至前房,伴有弥漫性角膜基质水肿。患者接受了局部阿托品和倍他米松滴眼液治疗,但由于晶状体与角膜接触及角膜水肿,48小时后进行了晶状体摘除并植入虹膜固定人工晶状体。随访时角膜水肿有所改善。同型胱氨酸尿症较少见的表现为发病年龄早且在无外伤史的情况下单侧晶状体完全脱位至前房。在包括同型胱氨酸尿症在内的导致悬韧带溶解的全身性疾病患者中,晶状体脱位通常是对称且双侧的。然而,对于单侧病例,尤其是那些没有任何外伤史的患者,有必要评估是否患有同型胱氨酸尿症等全身性疾病,以便早期诊断并预防其他全身性累及。