Department of Ophthalomology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India
Sadguru Netra Chikitsalaya, Chitrakoot, India.
BMJ Case Rep. 2021 Oct 19;14(10):e245160. doi: 10.1136/bcr-2021-245160.
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.
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。