Purpose: To describe a patient presenting in adulthood with isolated retinopathy found to have mucopolysaccharidosis type IIIA. Methods: A single case was evaluated. Results: A 36-year-old man presented with 5 years of worsening peripheral vision and night vision. The initial examination and testing raised concerns for rod-cone dystrophy. Genetic testing with an Invitae Inherited Retinal Disorders Panel showed 2 variants of SGSH, which is associated with mucopolysaccharidosis type IIIA. Laboratory testing showed low heparan-N-sulfatase levels and elevated heparan sulfate levels. These results and a thorough literature review support a diagnosis of mild attenuated non-neuronopathic mucopolysaccharidosis type IIIA. Conclusions: This case highlights the necessity for collaboration with genetic counselors and the value of a provider’s clinical acumen in interpreting genetic testing results. Furthermore, the importance of considering mucopolysaccharidosis type IIIA when adult patients present with new-onset isolated retinitis pigmentosa is emphasized.
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