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Article

Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.

Iranian biomedical journal - 1 Jul 2020

Bushehri Ata, Zare-Abdollahi Davood, Hashemian Hesam, Safavizadeh Ladan, Effati Jalil, Khorram Khorshid Hamid Reza

Abstract excerpt

Background: The clinical phenotyping of patients with achromatopsia harboring variants in phosphordiesterase 6C (PDE6C) has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cyclic guanosine monophosphate that proceeds with the hyperpolarization of photoreceptor cell membranes, as the final step of the phototransduction cascade....

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Identifiers

PMID: 32306724
DOI: 10.29252/ibj.24.4.257
PMCID: PMC7275818

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