From Photophobia to Achromatopsia. How to Establish the Correct Diagnosis
Achromatopsia is a congenital autosomal recessive disorder characterized by decreased or absent cone’s function. Clinical symptoms include photophobia, nystagmus, low best corrected visual acuity, complete or incomplete color vision. Mutations in the CNGA3 and CNGB3 genes are responsible for approxi...
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| Main Authors: | M. F. Shurygina, A. M. Khoteeva, I. A. Mishina, V. A. Pismenskaya |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Ophthalmology Publishing Group
2023-01-01
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| Series: | Oftalʹmologiâ |
| Subjects: | |
| Online Access: | https://www.ophthalmojournal.com/opht/article/view/1995 |
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