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[Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]
R Gulias-Cañizo1, R Castañeda-Díez, A Gómez-Leal
1Servicio de Patología Oftálmica, Asociación para Evitar la Ceguera en México, I.A.P., Hospital Dr. Luis Sánchez Bulnes, México. bichorro76@hotmail.com
Archivos De La Sociedad Espanola De Oftalmologia
|June 29, 2006
Summary
This study examined Mexican patients with macular corneal dystrophy, finding similar clinical and histopathological features to previous reports. Novel CHST6 gene mutations were identified in some cases, highlighting genetic factors.
Area of Science:
- Ophthalmology
- Genetics
- Histopathology
Background:
- Macular corneal dystrophy (MCD) is a rare inherited corneal disease.
- Understanding its features is crucial for diagnosis and management.
Purpose of the Study:
- To characterize the clinical, genetic, histopathological, and ultrastructural features of Mexican patients with MCD.
- To compare these findings with existing literature.
Main Methods:
- Analysis of six histopathologically diagnosed MCD cases (1957-2004).
- Clinical examination, histopathology with special stains (Alcian blue, colloidal iron), transmission electron microscopy, and genetic analysis (CHST6 gene).
Main Results:
- Clinical presentation included focal grayish-white stromal opacities.
- Histopathology revealed intrastromal glycosaminoglycan granules.
- Electron microscopy showed endoplasmic reticulum enlargement and vacuoles.
- Novel CHST6 gene mutations were identified in two patients.
Conclusions:
- Females were more frequently affected, with a later mean age at diagnosis compared to prior studies.
- Clinical, histopathological, and ultrastructural findings align with previous MCD reports.
- CHST6 gene mutations are a basis for MCD in some cases.