Abstract
We report on the case of a 19-year-old male with Stargardt disease (STGD1) who presented with a five-year history of progressive vision loss, accompanied by the recent onset of alternating exotropia. This patient initially sought care due to difficulties with near vision and tended to focus on distant objects when looking to the right. He was found to have a best-corrected visual acuity of 20/200 in both eyes. A comprehensive evaluation, including multimodal imaging and multifocal electroretinogram, was performed. Genetic testing confirmed the diagnosis of STGD1, identifying homozygous mutations in the ABCA4 gene. Interestingly, an additional heterozygous mutation in the WDPCP gene, typically associated with Bardet-Biedl syndrome, was also discovered. The patient's exotropia, an atypical feature in STGD1, underscores the importance of comprehensive clinical and genetic evaluation and the need for further research into the clinical significance of these findings.