Clinical and genetic features of CNGA3 achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials
PurposeAchromatopsia (ACHM) is a rare genetic disorder with an infantile onset that affects cone photoreceptors. This study aims to provide a comprehensive phenotyping of the retinal structure and identify novel genetic variants in a preschool cohort with ACHM in China.MethodsWe recruited patients w...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1560556/full |
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