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The co-occurrence of homozygous variants in GUCY2D and MYO7A in Leber congenital amaurosis associated with deafness: clinical, molecular, and in silico investigation

Crossref DOI link: https://doi.org/10.1007/s11033-026-12099-w

Published Online: 2026-06-10

Published Print: 2026-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Maalej, Marwa

Sfaihi, Lamia

Abid, Imen Zone

Ammar, Marwa

Kammoun, Thouraya

Tlili, Abdelaziz

Mkaouar-Rebai, Emna

Fakhfakh, Faiza
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Article History

Received: 20 February 2026

Accepted: 1 June 2026

First Online: 10 June 2026

Declarations

:

: The authors declare no competing interests.

: All procedures performed in this study were in accordance with the ethical standards of the institutional research committee and with the 1964 Declaration of Helsinki and its later amendments. Written informed consent to participate in the study was obtained from the proband’s parents.

: Written informed consent for publication of this manuscript was obtained from the proband’s parents as legal guardians.

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