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.