Retinal cases & brief reports · 2026
Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome.
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Haefeli Lorena M, Paredes Diego I, Wyman Celeste S, Capasso Jenina E, Chattannavar Goura, Khetan Vikas, Tallis Eran, Levin Alex V
Аннотация
PURPOSE: Biallelic variants in the HGSNAT gene are associated with Sanfilippo syndrome, a rare lysosomal storage disorder caused by deficiency of heparan acetyl CoA glucosamine N-Acetyl-transferase enzyme(HGSNAT). The syndrome is characterized by multiple systemic findings, including progressive neurological and retinal degeneration. Retinitis pigmentosa due to HGSNAT gene variants are rarely reported without systemic manifestations.
METHODS: Here we describe two patients with retinitis pigmentosa and reduced enzymatic activity. One of our patients also had hearing loss. We also present a review of the literature for cases of non-syndromic retinal dystrophy associated with HGSNAT variants in the discussion.
RESULTS: The first patient with retinitis pigmentosa and hearing loss has two variants of uncertain significance in the HGSNAT gene(p.Thr522Met and p.Cys79Arg). HGSNAT enzyme activity was 0.43nmol/17hr/mg(normal:5.8-45nmol/17hr/mg protein). Our second patient with isolated retinitis pigmentosa has two heterozygous pathogenic variants in HGSNAT (p.Arg124Trp and p.Ala615Thr). HGSNAT enzyme activity was 1.13nmol/17hr/mg(normal:5.8-45nmol/17hr/mg protein).
CONCLUSIONS: The retinal findings are consistent with HGSNAT-related disease. The first case is the second report of retinitis pigmentosa and hearing loss linked to HGSNAT-related disease. Both cases showed reduced HGSNAT enzyme activity in blood. Although more evidence is needed to definitively link adult-onset hearing loss to HGSNAT variants, it may be due to reduced enzyme activity.
METHODS: Here we describe two patients with retinitis pigmentosa and reduced enzymatic activity. One of our patients also had hearing loss. We also present a review of the literature for cases of non-syndromic retinal dystrophy associated with HGSNAT variants in the discussion.
RESULTS: The first patient with retinitis pigmentosa and hearing loss has two variants of uncertain significance in the HGSNAT gene(p.Thr522Met and p.Cys79Arg). HGSNAT enzyme activity was 0.43nmol/17hr/mg(normal:5.8-45nmol/17hr/mg protein). Our second patient with isolated retinitis pigmentosa has two heterozygous pathogenic variants in HGSNAT (p.Arg124Trp and p.Ala615Thr). HGSNAT enzyme activity was 1.13nmol/17hr/mg(normal:5.8-45nmol/17hr/mg protein).
CONCLUSIONS: The retinal findings are consistent with HGSNAT-related disease. The first case is the second report of retinitis pigmentosa and hearing loss linked to HGSNAT-related disease. Both cases showed reduced HGSNAT enzyme activity in blood. Although more evidence is needed to definitively link adult-onset hearing loss to HGSNAT variants, it may be due to reduced enzyme activity.