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Contributors VAN was responsible for drafting the manuscript. FB was responsible for conception and design of the manuscript; he revised the manuscript. LM revised the manuscript. BW revised the manuscript. EK did the Sanger sequencing and revised the manuscript. RM identified the pigmentary retinopathy and revised the manuscript. HH revised the manuscript.
Competing interests None.
Patient consent Obtained.
Ethics approval Case report format.
Provenance and peer review Not commissioned; externally peer reviewed. This paper was reviewed by Simon Hammans, Southampton, UK.