6533b86dfe1ef96bd12c95d5

RESEARCH PRODUCT

Early and late clinical landmarks of corneal dystrophies

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description

Abstract Corneal dystrophies (CDs) represent a heterogenous group of genetic diseases (Lisch and Weiss, 2019). The International Committee of Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy (CD) which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant and recessive patterns do exist. A detailed corneal examination of as many affected family members as possible can show the phenotypic differences of the various generations. There are few publications which describe the different CDs with regard to the early and late phenotypes. According to early and late phenotype, three types of CD are generally classified: (1) Thirteen CDs with early and late clinical landmarks. However, it must be pointed out that the different penetrances of the gene often leads to quantitative differences in the corneal phenotype in peers in distinct generations of the same family. (2) Seven CDs with late onset and very little progression of the corneal changes. (3) Two CDs with congenital haze which can be interpreted as the final phenotype of this dystrophy. This applies to autosomal dominant and recessive inheritance.