Search results for "Epithelial recurrent erosion dystrophy"

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Clinical and genetic update of corneal dystrophies.

2019

The International Committee for Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant patterns do exist. Before any genetic examination, there should be documentation of a detailed corneal exam of as many affected and unaffected family members as possible, because detailed phenotypic description is essential for accurate diagnosis. Corneal documentation should be performed in direct and indirect illumination at the slit lamp with the pharmacologically dilated pupil. For the majority of the corneal dystrophies, a phenotype-genotype correlatio…

medicine.medical_specialtygenetic structuresGenetic ExaminationCorneal dystrophyCollagen Type ITransforming Growth Factor beta1Cellular and Molecular NeuroscienceCorneaOphthalmologyGenotypemedicineHumansGenetic Predisposition to DiseaseCorneal Dystrophies Hereditarybusiness.industryEpithelium Cornealmedicine.diseasePhenotypeeye diseasesSensory SystemsCollagen Type I alpha 1 ChainOphthalmologyEpithelial recurrent erosion dystrophymedicine.anatomical_structuresense organsDifferential diagnosisbusinessTGFBIExperimental eye research
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