Footnotes

• Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: CS was the primary author who compiled the images and wrote the accompanying text for the condition. They also performed a brief literature search on the current updated literature and treatment options for patients with Leber’s congenital amaurosis. JSB assisted with the literature search as well as obtaining the historical fundal images. MA contributed through critically reviewing as well as providing guidance on what the overarching theme of the case report should be. GW initiated the case report by obtaining the retinal images, discussing with the patient the objectives of the case report and gaining consent. They also provided support and critically reviewed the case report. The following authors gave final approval of the manuscript: GSW and MA gave the final approval of the manuscript. Is the patient one of the authors of this manuscript? No.

• Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

• Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

• Competing interests None declared.

• Provenance and peer review Not commissioned; externally peer reviewed.