| Sumario: | Background: Stargardt disease (STGD), the most common juvenile form of macular degeneration, is typically autosomal recessive, inherited from an ABCA4 gene mutation. With advancements in genetic testing, novel potentially pathogenic variants have been phenotypically linked to STGD. We will discuss the low vision (LV) management of a patient with an initial unspecified retinal dystrophy diagnosis leading to the discovery of an ELOVL4 genetic mutation found within his family. Case Report: A 57-year-old male presented to the LV clinic for a second opinion with a diagnosis of an unspecified retinal dystrophy. Despite being diagnosed 7 years prior, a severe decrease in vision within a year initiated several visits to different eye care providers with an uncertain diagnosis. The LV examination addressed his goals of reading large print with eccentric viewing, training, and electronic magnification; reducing glare sensitivity with filter lenses; and genetic testing for a molecular diagnosis. Genetic testing identified a novel mutation in the ELOVL4 gene previously linked to an autosomal-dominant form of macular dystrophy. Seven additional genetic variants with uncertain clinical significance were identified. Due to limited clinical data available for these variants, the patient's five children also completed genetic testing to assess whether any of these variants co-segregated with retinal disease in the family. The same ELOVL4 variant was confirmed in his five currently asymptomatic children. Genetic counseling, lifestyle recommendations, and information on the importance of an annual eye exam were provided based on genetic findings. Conclusions: Genetic testing plays a role in LV for the identification of ocular conditions outside the textbook presentation. Our case demonstrated more evidence to support the correlation of this ELOVL4 variant to a possibly novel form of autosomal-dominant STGD. Genetic testing can identify others with the same variant and aid in determining pathophysiology to advance gene therapy options. LV rehabilitation has the tools to maximize patients' remaining vision.
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