Progression and topographic subtypes of Terrien marginal degeneration

Minna Ruutila; Pauliina Repo; Annamari T Immonen; Joni A Turunen; Marja-Liisa Lokki; A Inkeri Lokki; Jukka Moilanen; Kari Krootila; Tero T Kivelä

doi:10.1111/aos.17524

Progression and topographic subtypes of Terrien marginal degeneration

Acta Ophthalmol. 2025 May 19. doi: 10.1111/aos.17524. Online ahead of print.

Authors

Minna Ruutila¹, Pauliina Repo^{1

2}, Annamari T Immonen^{1

2}, Joni A Turunen^{1

2}, Marja-Liisa Lokki³, A Inkeri Lokki^{4

5

6}, Jukka Moilanen¹, Kari Krootila¹, Tero T Kivelä¹

Affiliations

¹ Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
² Eye Genetics Group, Folkhälsan Research Center, Helsinki, Finland.
³ Transplantation Laboratory, Department of Pathology, University of Helsinki, Helsinki, Finland.
⁴ Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland.
⁵ Translational Immunology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
⁶ Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland.

PMID: 40387305
DOI: 10.1111/aos.17524

Abstract

Purpose: To report long-term outcomes and to search for immunological and genetic risk factors in Terrien marginal degeneration (TMD).

Methods: Retrospective, in part prospective, hospital-based longitudinal follow-up study of 32 eyes of 16 Finnish patients from 2012 to 2023. Median follow-up was 7.3 years (range, 0.3-15.2). Symptoms, best corrected visual acuity, pattern in axial power map, astigmatism, corneal thickness, higher order irregularity, cavities, progression and human leukocyte antigen genes were analysed. In 13 blood samples, 483 corneal and inflammatory disease-related genes were analysed with exome sequencing.

Results: The median age at first examination was 61 years (range, 13-89). Eleven (69%) patients were male, and 13 (81%) had bilateral disease. The median annual rate of progression of topographic astigmatism and new thinning was 0.03 D (range, -1.50 to 3.60) and 12.9 μm (range, -107.8 to 93.0), respectively; 0.15 D (range -1.50 to 1.17) and 21.6 μm (range, 1.3-93.0) in 6 (38%) patients with fast progression, and 0.02 D (range, -0.06 to 3.60) and 4.1 μm (range, -107.8 to 24.7) in 10 (72%) patients with slow progression. Topographic pattern, unilaterality, cavities, sectoral hyperaemia, poor response to medical treatment and new thinning after surgery were associated with fast progression. Thickness at maximal thinning fell below 450 μm only with fast progression. Five eyes changed the topographic pattern. Coexisting keratitis fugax hereditaria was found in one patient.

Conclusions: A subtype of TMD progresses faster. The most sensitive indicators of progression were thinning and topographic astigmatism. No shared genetic cause for TMD was identified.

Keywords: Terrien's marginal degeneration; corneal tomography; corneal topography; progression; subtypes.

Abstract

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