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Macular Corneal Dystrophy and Posterior Corneal Abnormalities
Yair Rubinstein1, Chen Weiner, Adi Einan-Lifshitz
1*The Matlow's Ophthalmo-Genetics Laboratory, Department of Ophthalmology, Assaf-Harofeh Medical Center, Zerifin, Israel;†Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; and‡Department of Ophthalmology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ultrasound biomicroscopy (UBM) reveals posterior corneal changes in macular corneal dystrophy (MCD), indicating penetrating keratoplasty (PK) is superior to anterior lamellar keratoplasty (DALK). A novel CHST6 mutation highlights MCD
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Macular corneal dystrophy (MCD) is a rare inherited eye disease affecting corneal clarity.
- Understanding the posterior corneal changes is crucial for surgical decision-making in MCD.
- Previous imaging modalities have limitations in fully assessing corneal pathology.
Purpose of the Study:
- To evaluate the utility of ultrasound biomicroscopy (UBM) in assessing posterior corneal changes in macular corneal dystrophy (MCD).
- To compare UBM with optical coherence tomography (OCT) and Scheimpflug imaging for surgical planning in MCD.
- To determine the optimal surgical approach (DALK vs. PK) based on imaging findings.
Main Methods:
- Six patients from two families with MCD underwent comprehensive eye examinations.
- Imaging techniques included slit-lamp examination, OCT, Scheimpflug imaging, and UBM.
- Genetic analysis screened the CHST6 gene for mutations.
Main Results:
- All patients exhibited typical slit-lamp signs of MCD.
- Two patients required corneal transplantation, with recurrence of MCD after DALK in two eyes.
- Eyes treated with PK remained clear, with follow-up up to 10 years.
- UBM identified deeper posterior corneal pathologies not visible with OCT or Scheimpflug.
- A novel CHST6 mutation was identified in one family.
Conclusions:
- UBM effectively visualizes posterior corneal layer alterations in MCD.
- Penetrating keratoplasty (PK) is confirmed as the preferred surgical treatment over DALK for MCD.
- The identification of a novel CHST6 mutation underscores the genetic heterogeneity of MCD.
