Am J Ophthalmol Case Rep 2022 Sep 11;27:101613. Epub 2022 Jun 11.
Division of Genomic Medicine, MIND Institute, Department of Pediatrics, UC Davis Medical Center, 2825 50th Street, Sacramento, CA, 95817, USA.
Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease.
Observations: Detailed eye evaluations, including visual acuity, visual field, slit lamp examination, and indirect ophthalmoscopy were performed. Retinal imaging included fundus photography and spectral domain optical coherence tomography (SD-OCT). Read More