Author

Sian Sperring

2 papers indexed here

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Open access Sep 2026

Isolated rod-cone dystrophy in homozygous IFT140 missense allele p.Tyr923Asp.

OBJECTIVE IFT140 encodes a core intraflagellar transport protein essential for ciliary function. While biallelic IFT140 variants typically cause syndromic ciliopathies such as Mainzer-Saldino syndrome, isolated retinal phenotypes are increasingly recognized. We describe two affected siblings from a consanguineous Pakis...

Carl Eiselen, M. Shanks, Sian Sperring et al. · Ophthalmic Genetics · 0 citations

Open access Oct 2026

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Variant-level functional assays expand the phenotypic spectrum of IDUA-associated disease to include late-onset retinal-predominant or apparently isolated retinitis pigmentosa and indicate that residual enzyme activity likely contributes to systemic sparing, highlighting the value of integrated genomic, biochemical, an...

Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al. · American Journal of Human Ge... · 0 citations