Early and late clinical landmarks of corneal dystrophies. (September 2020)

• Record Type: Journal Article
• Authors: Lisch, Walter; Weiss, Jayne S.
• Is Part Of: Experimental eye research. Volume 198(2020)
• Publication Date: 2020-09
• Subjects: Corneal dystrophies -- Three types of corneal dystrophy with regard to progression -- Different penetrances of the gene -- Corneal dystrophies with early and late clinical landmarks -- Corneal dystrophies with questionable progression of clinical landmarks -- Congenital haze of corneal dystrophies; ALK anterior lamellar keratoplyasty -- CHST6 carbohydrate sulfotransferase 6 -- COL17A1 collagen type type XVII, alpha 1 -- CL contact lens -- CD corneal dystrophy -- CDs corneal dystrophies -- DALK deep anterior lamellar keratoplasty -- DMEK Descemet membrane endothelial keratoplasty -- DNA desoxyribonucleic acid -- El early landmarks -- IC3D international committee for classification of corneal dystrophies -- LKP lamellar keratoplasty -- Ll late landmarks -- OCT optical coherence tomography -- p pattern -- PKP penetrating keratoplasty -- PTK photo therapeutic keratectomy -- ROCK-inhibitor rho associated protein kinase inhibitor -- TGFBI transforming growth factor beta-induced -- UBIAD1 UbiA prenyltransferase domain containing 1; Ophthalmology -- Periodicals; Eye -- Periodicals; Œil -- Périodiques; Ophthalmology; Periodicals; Electronic journals; 612.8405
• DOI: 10.1016/j.exer.2020.108139
• Languages: English
• ISSNs: 0014-4835

Abstract

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. Highlights: Early and late clinical landmarks of corneal dystrophies. Classification of corneal dystrophies with regard to their clinical landmarks. Influence of the different penetrances of the gene on the clinical landmarks of corneal dystrophy. Corneal dystrophies with very low clinical progression. Corneal dystrophies with congenital haze.