Genetic tool used to diagnose achromatopsia: first case report from India

Genetic tool used to diagnose achromatopsia: first case report from India

Abstract Background Achromatopsia is an autosomal recessive disease characterized by poor visual acuity, lack of color vision, nystagmus, and marked photophobia. The symptoms can be extremely disabling, and at present, there is no cure available. Mutations in the CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, a...

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Bibliographic Details
Main Authors: Kumari Pritti, Vineet Mishra, Udhaya Kotecha, Somesh Aggarwal
Format: Article
Language:English
Published: SpringerOpen 2023-06-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Exome sequencing
Achromatopsia
Genetic testing
Compound heterozygous
Prenatal diagnosis
Online Access:https://doi.org/10.1186/s43042-023-00420-2

Internet

https://doi.org/10.1186/s43042-023-00420-2

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