Chapter

Cornea Plana

Arif O. Khan

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI: http://dx.doi.org/10.1093/med/9780195326147.003.0006

Series: Oxford Monographs on Medical Genetics

Cornea Plana

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CNA2 has a distinct recognizable phenotype that is specific for recessive KERA mutations. CNA1 is less severe and more variable and likely has more than one locus. Sclerocornea, microphthalmia, and microcornea are distinct entities that should be distinguished from cornea plana.

Patients with cornea plana often have high refractive error (high hyperopia) with secondary strabismus and/or amblyopia. These need to be identified and managed as early as possible for optimal treatment. Rarely congenital pupillary abnormalities may necessitate pupilloplasty.

The phenotype of recessive cornea plana is generally non-progressive, with three infrequent exceptions. One is the possibility of progressive corneal astigmatism (reported in two genetically confirmed cases, with one patient developing hydrops). The second is the possibility of angle-closure glaucoma, for which patients need life-long monitoring because the risk of glaucoma apparently increases with time. The third is acquired non-traumatic corneal decompensation, which has been described in three genetically distinct cases.

Chapter.  3742 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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