Corneal dystrophies

Chapter 34 Corneal dystrophies




Corneal dystrophies are rare Mendelian inherited conditions which exhibit bilateral and usually symmetrical corneal changes.


Nomenclature has been difficult because of controversies about the phenotype definitions. Many authors published different phenotypes under the same headings.


In this chapter, I will focus on a few classic dystrophies, highlighting the clinical presentation in children and emphasizing the differences from the adult. Slit-lamp pictures of the often very subtle changes of corneal dystrophies in children are difficult to take. The clinical pictures in this chapter look almost alike. However, when examining children for a corneal dystrophy, do not look for the well-known adult slit-lamp appearance. You need to look for subtle opacities, similar to the adult clinical picture, but the final diagnosis is made after examining the whole family. Most of the dystrophies are progressive, and the figures illustrate how different the clinical picture may be in youngsters.





Mutation rate


The prevalence and clinical significance of the conditions vary. The founder effect (i.e., an increase in the number of cases of a certain genetic trait due to the introduction of a new mutation in an isolated population) has, in some countries, given rise to publication of large pedigrees of conditions that may be almost non-existent elsewhere.


As the mutation rates for many of the corneal dystrophies are low, it is important to be cautious when diagnosing apparently sporadic cases. A family history and examination of family members are mandatory.


Jun 4, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Corneal dystrophies

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