Purpose: The purpose of this study was to report novel autofluorescence and spectral domain optic coherence tomography findings in a case of Alport syndrome.
Methods: Case report and literature review.
Results: A 30-year-old woman with a history of Alport syndrome presented with a full-thickness macular hole in her right eye and evidence of vitreofoveal traction in her asymptomatic left eye. Both eyes had temporal macular thinning. She had anterior lenticonus and perimacular flecks characteristic of Alport syndrome. In addition, fundus autofluorescence revealed an interesting pattern of splotchy hypoautofluorescence in the periphery (in the absence of any peripheral retinopathy on examination), which has not been described previously.
Conclusion: Macular hole in Alport syndrome results from basement membrane weakness and an abnormal vitreoretinal interface. Although this makes surgery in these cases challenging, careful separation of the posterior hyaloid and internal limiting membrane peeling with fluid gas exchange can lead to successful closure. Alport syndrome can also cause abnormalities in the retinal pigment epithelium/Bruch membrane leading to abnormal autofluorescence.
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