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Article History

Received: 18 September 2025

Accepted: 21 January 2026

First Online: 14 March 2026

Declarations

:

: Written informed consent for clinical description and de-identified images or data was obtained from the patients or legal guardians, in line with local policy. Where minors were involved, guardian consent was secured. The guardians of the affected children expressed relief in receiving a unifying diagnosis that explained their children’s diverse symptoms. They valued the counseling provided regarding prognosis, genetic implications, and preventive strategies for avoidable complications. Families highlighted concerns about progressive vision loss and kidney involvement, emphasizing the importance of continued medical support and access to specialized care.

: Written informed consent was obtained from the patients and/or patients’ legal guardians for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

: The authors declare that they have no competing interests.