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Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants

David Zocche1, Mariya Moosajee2,3, Alpana M Kulkarni4

  • 1North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospitals, London, UK.

American Journal of Medical Genetics. Part A
|August 14, 2025
PubMed

Insights

Phosphoribosyl pyrophosphate synthetase (PRS) deficiency, an X-linked disorder, can cause early retinal issues. This study details two female patients with PRS deficiency experiencing vision loss and hearing impairment at a young age.

Area of Science:

  • Genetics and Molecular Biology
  • Ophthalmology
  • Neurology

Background:

  • Phosphoribosyl pyrophosphate synthetase (PRS) deficiency is an X-linked genetic disorder caused by PRPS1 variants.
  • It presents a spectrum of phenotypes including Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1).
  • Males typically exhibit more severe symptoms than females.

Observation:

  • Two unrelated female patients presented with progressive sensorineural hearing loss and very early-onset retinal degeneration.
  • Ocular manifestations were observed at 12 and 13 months of age.
  • Both patients carried the pathogenic PRPS1 c.640C>T p.(Arg214Trp) variant.

Findings:

  • The reported cases demonstrate retinal involvement in PRS deficiency at an earlier age than previously documented.
  • This expands the known clinical spectrum of PRPS1-related disorders.
  • The findings highlight the phenotypic variability, especially concerning early ocular symptoms.

Implications:

  • This research deepens the understanding of PRS deficiency's complex and variable presentation.
  • It emphasizes the importance of early ophthalmological evaluation in patients with suspected PRS deficiency.
  • Further research is needed to elucidate the mechanisms behind early-onset retinal degeneration in this condition.

Keywords:
PRPS1X‐linked disorderretinal degenerationsensorineural hearing loss

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