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迟发性皮肤卟啉症致视力威胁性进行性角巩膜受累。

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda.

机构信息

Department of Ophthalomology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India

Sadguru Netra Chikitsalaya, Chitrakoot, India.

出版信息

BMJ Case Rep. 2021 Oct 19;14(10):e245160. doi: 10.1136/bcr-2021-245160.

Abstract

Porphyria cutanea tarda is the most common type of porphyria. It is associated with a deficiency of uroporphyrinogen decarboxylase enzyme responsible for heme synthesis. Clinical manifestations are predominantly dermatological and very rarely present with ocular involvement. Although scleral thinning in the interpalpebral area is a well-documented entity, sight-threatening corneal involvement is rarely described. We, herein report a case of a 58-year-old man who presented with ocular surface dryness, photophobia and mild redness. Slit-lamp biomicroscopy revealed corneo-scleral thinning in both eyes. The diagnosis was confirmed with a urine porphyrin test, serum iron and serum ferritin levels. We started him on conservative management after which he was lost to follow-up. He presented again after 6 years with total corneal opacification and progressive loss of vision in the right eye.

摘要

迟发性皮肤卟啉病是最常见的卟啉病类型。它与尿卟啉原脱羧酶缺乏有关,该酶负责血红素的合成。临床表现主要为皮肤,极少见眼部受累。虽然球结膜在睑裂区变薄是一个有据可查的实体,但威胁视力的角膜受累很少见。我们在此报告一例 58 岁男性,表现为眼表干燥、畏光和轻度发红。裂隙灯生物显微镜检查显示双眼角巩膜变薄。通过尿卟啉试验、血清铁和血清铁蛋白水平确诊。我们对他进行了保守治疗,之后他就失访了。6 年后,他再次出现,右眼完全混浊,视力逐渐丧失。

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