Clinical Spectrum of Heparan-α-glucosaminide N-acetyltransferase-Associated Nonsyndromic Retinitis Pigmentosa

Purpose: To describe the expanding genotypic and phenotypic spectrum of isolated HGSNAT-related retinitis pigmentosa (RP). Methods: This retrospective case series included 3 patients with HGSNAT-related RP who presented to the Wilmer Eye Institute. Medical records and multimodal imaging findings were reviewed. Results: Three patients were identified, aged 39 to 66 years. Symptom duration before presentation ranged from 3 months to 5 years, and best-corrected visual acuity ranged from 20/20 to 20/125. All 3 patients harbored the c.1843G>A (p.Ala615Thr) or the novel c.1102A>T (p.Lys368*) HGSNAT pathogenic variants and demonstrated wide phenotypic heterogeneity. Conclusions: This case series illustrates the diverse clinical presentations within the spectrum of HGSNAT-related RP and highlights the diagnostic challenges posed by cases with minimal fundoscopic abnormalities.