2020–2021 BCSC Basic and Clinical Science Course™
4 Ophthalmic Pathology and Intraocular Tumors
Part I: Ophthalmic Pathology
Chapter 6: Cornea
Dystrophies
Stromal Dystrophies
Macular corneal dystrophy
Macular corneal dystrophy (MCD), an autosomal recessive corneal stromal dystrophy, is caused by mutations in the carbohydrate sulfotransferase 6 gene (CHST6), located at 16q22. This dystrophy is characterized by diffuse stromal haze that extends from limbus to limbus and is associated with poorly demarcated focal opacities (macules) (Fig 6-23A). Histologically, H&E staining shows subtle eosinophilic stromal deposits. Alcian blue and colloidal iron stains highlight nonsulfated glycosaminoglycan deposits, which accumulate intracellularly in the stromal keratocytes and endothelium and extracellularly in the stroma (Fig 6-23B, C). Pathologic changes in the endothelium are frequently accompanied by guttae in the Descemet membrane (Fig 6-23D). See Table 6-1 for a histologic comparison of LCD1, GCD1, GCD2, and MCD.
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Aggarwal S, Peck T, Golen J, Karcioglu ZA. Macular corneal dystrophy. Surv Ophthalmol. 2018; 63(5):609–717.
Excerpted from BCSC 2020-2021 series: Section 4 - Ophthalmic Pathology and Intraocular Tumors. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.