Purtscher-like retinopathy in a 19-year-old with maturity-onset diabetes of the young: a case report

Abstract

Background: We report the first case of Purtscher-like retinopathy in a patient with 17q12 deletion-associated maturity-onset diabetes of the young.

Case presentation: A 19-year-old diabetic Hispanic male with history of cataracts and toe amputations presented with sudden onset of painless bilateral vision loss for 1 week with no associated trauma. Visual acuity was counting fingers at six feet in both eyes. Dilated retinal examination revealed bilateral peripapillary cotton wool spots and intraretinal hemorrhages, and significant subretinal and intraretinal fluid on optical coherence tomography. Fluorescein angiography revealed arteriolar staining and leakage around the disc with areas of capillary nonperfusion, supporting the diagnosis of Purtscher-like retinopathy. Systemic workup revealed multiple diabetic complications including chronic osteomyelitis of multiple toes, nonhealing diabetic foot ulcers, neurogenic bladder and bowel, and bilateral lower-extremity muscular neuropathies. Genetic evaluation revealed a 17q12 deletion, which is associated with maturity-onset diabetes of the young 5. On follow-up examination, he received a single intravitreal antivascular endothelial growth factor injection in the left eye (off label) for persistent macular edema. Although his retinal edema improved, his visual acuity remained poor.

Conclusions: The presentation of our patient's multiple diabetic complications along visual symptoms suggests Purtscher-like retinopathy can be a sequela of uncontrolled diabetes. Purtscher-like retinopathy is a rare but possible consideration in diabetic patients who present with acute-onset vision loss.

Keywords: 17q12 deletion; Case report; Diabetes; Diabetic retinopathy; Maturity-onset diabetes of the young; Purtscher’s retinopathy.

Fig. 1

Dilated fundus photos in patient with Purtscher-like retinopathy. A 19-year-old diabetic male presented with decreased vision in both eyes for 1 week with no inciting trauma and was found to have a genetic 17q12 deletion associated with mature-onset diabetes of the young 5. A Diabetic retinal screening 3 months prior to initial presentation showed no evidence of diabetic retinopathy. Best corrected visual acuity was 20/20 bilaterally at this time. B Dilated fundus photos 2 weeks after onset of acute painless vision loss revealed multiple cotton wool spots and intraretinal hemorrhages predominantly in the peripapillary region, consistent with Purtscher-like retinopathy. There were no other signs of diabetic retinopathy beyond the peripapillary region in the posterior pole. Visual acuity was significantly decreased compared with 20/200 bilaterally. C One month after presentation, fundus examination showed persistent peripapillary cotton wool spots bilaterally, and visual acuity remained poor bilaterally

Fig. 2

Optical coherence tomography (OCT) in a patient with Purtscher-like retinopathy. OCT photographs of both eyes in a 19-year-old diabetic male with Purtscher-like retinopathy and a genetic 17q12 deletion. A Baseline photographs 3 months prior to presentation showed no evidence of macular edema. B OCT images 2 weeks after onset of blurry vision showed large intraretinal cysts with subretinal fluid bilaterally. The patient received a single intravitreal injection of antivascular endothelial growth factor in the left eye for persistent edema 1 month after presentation. C OCT images 2 months after presentation showed resolution of macular edema bilaterally