Logo image
Back
A Rare Case of Systemic Degos Disease Affecting the Eye: Case Report and Review of the Literature
Journal article   Peer reviewed

A Rare Case of Systemic Degos Disease Affecting the Eye: Case Report and Review of the Literature

Annie Zhang and Ying Qian
Ocular immunology and inflammation, v 34(6)
20 Jul 2026
DOI: https://doi.org/10.1080/09273948.2026.2690408
PMID: 42475656

Abstract

Adolescent Choroid - blood supply Fluorescein Angiography Humans Male Malignant Atrophic Papulosis - complications Malignant Atrophic Papulosis - diagnosis Papilledema - diagnosis Papilledema - etiology
Degos disease, or malignant atrophic papulosis, is an extremely rare multisystem occlusive vasculopathy characterized by pathognomonic porcelain-white cutaneous papules with frequently fatal gastrointestinal and central nervous system involvement. Ocular manifestations are varied and comprise only a small subset of the fewer than 200 total cases described in the literature. We report a rare pediatric case of systemic Degos disease with prominent ocular involvement preceding definitive diagnosis and a literature review of previously published cases of ocular Degos disease. A 13-year-old male with a history of Crohn's disease initially developed painless inferior visual field loss in the right eye with ipsilateral optic disc edema. Fundus examination revealed a chorioretinal scar in the contralateral asymptomatic eye. Over subsequent months, he developed a rash and progressive choroidal ischemia characterized by dome-shaped serous retinal detachment and extensive choroidal nonperfusion that had limited response to systemic and local corticosteroid treatment. Conjunctival telangiectatic vessels, progressive atrophic chorioretinal patches, and anisocoria followed in later progression, paralleling systemic deterioration, bowel perforation and death. Histopathology of jejunal biopsy confirmed Degos disease with C5b-9 deposition and type I interferon signaling.Recognition of unexplained choroidal nonperfusion or conjunctival vascular abnormalities with characteristic rash and GI symptoms should prompt consideration of Degos disease and multidisciplinary evaluation. Evolving understanding of Degos as interferon driven immune dysregulation leading to coagulopathy holds potential in targeted therapy that may alter the poor prognosis associated with this rare disease.

Metrics

1 Record Views

Details

Logo image