Choroideremia with Mutation in CHM Gene. Clinical Cases with Literature Review
The purpose: to describe clinical cases of choroideremia with mutation in CHM gene with molecular genetic verification of the diagnosis. Methods. Two relatives: a patient aged 33 and his mother’s sibs aged 39 with a rare hereditary retinal disease — choroideremia were examined. Patients’ full ophtha...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | Russian |
Published: |
Ophthalmology Publishing Group
2019-03-01
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Series: | Oftalʹmologiâ |
Subjects: | |
Online Access: | https://www.ophthalmojournal.com/opht/article/view/869 |