Klin Monbl Augenheilkd 2024; 241(04): 398-401
DOI: 10.1055/a-2219-8288
Der interessante Fall

Macular Corneal Dystrophy – Molecular Genetics as the Key in Treatment-Refractory Keratopathy

Makuläre Hornhautdystrophie – Molekulargenetik als Wegweiser bei der Diagnosestellung von therapierefraktären Keratopathien
Jan Spindler
1   Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland
,
Samuel Koller
2   Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland
,
Urs Graf
2   Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland
*   Aktuelle Adresse: Labordiagnostic St. Gallen West AG, 9015 St. Gallen
,
Wolfgang Berger
2   Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland
3   Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland
4   Zentrum für Neurowissenschaften (ZNZ), University and ETH Zurich, Zurich, Switzerland
,
Christina Gerth-Kahlert 
1   Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland
,
Frank Blaser
1   Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland
› Author Affiliations
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Introduction and Purpose

Macular corneal dystrophy (MCD) is a severe and rare form of corneal dystrophy. It usually develops in childhood or adolescence [1], [2] and is a genetic disorder with an autosomal recessive pattern of inheritance. MCD is characterized by the formation of progressive bilateral scattered gray-white punctuate opacities in the corneal stroma and central corneal thinning. It typically starts centrally, which then progressively extends to the periphery and eventually involves the entire corneal thickness. If left untreated, MCD leads to bilateral deterioration of visual acuity. Currently, the most effective treatment is corneal transplantation [1], [2]. Even though recurrence of MCD is rare, it may occur many decades after penetrating keratoplasty (PKP), which remains the gold standard in the cure of MCD for long-term visual rehabilitation.



Publication History

Received: 11 November 2023

Accepted: 28 November 2023

Article published online:
23 April 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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