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

• Published in: Journal of medical case reports Vol. 17; no. 1; p. 255
• Main Authors: Oh, Angela J, Javaheri, Michael, Hosseini, Hamid, Prasad, Pradeep S
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 19.06.2023; BioMed Central; BMC
• Subjects: 17q12 deletion; Adult; Bladder; Case Report; Case reports; Cataracts; Diabetes; Diabetes Mellitus, Type 2 - complications; Diabetic foot; Diabetic retinopathy; Diabetics; Edema; Fluorescein Angiography - adverse effects; Fluorescein Angiography - methods; Foot diseases; Genetic counseling; Genetic testing; Glaucoma; Growth factors; Humans; Infections; Intensive care; Male; Maturity-onset diabetes of the young; Medical imaging; Optics; Pancreatitis; Papilledema; Purtscher’s retinopathy; Retinal Diseases - diagnosis; Retinal Diseases - etiology; Tomography; Trauma; Viral infections; Visual acuity; Wool; Young Adult; Diabetic retinopathy; Case report; Maturity-onset diabetes of the young; Diabetes; 17q12 deletion; Purtscher’s retinopathy
• ISSN: 1752-1947; 1752-1947
• DOI: 10.1186/s13256-023-03985-z

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