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Related Experiment Video

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RPGRIP1-related retinal disease presenting as isolated cone dysfunction.

Arif O Khan1,2

  • 1Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.

Ophthalmic Genetics
|February 10, 2023
PubMed
Summary

Biallelic RPGRIP1 variants can cause isolated cone dysfunction, a phenotype distinct from typical Leber congenital amaurosis or cone-rod dystrophy. This condition may present as stable or progressive retinal dysfunction.

Keywords:
Leber congenital amaurosisRPGRIP1cone dysfunction

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Biallelic pathogenic variants in the RPGRIP1 gene are usually linked to severe Leber congenital amaurosis or cone-rod dystrophy.
  • This study explores a less common presentation of RPGRIP1-related disorders.

Purpose of the Study:

  • To identify and characterize isolated cone dysfunction as an alternative phenotype associated with biallelic RPGRIP1 pathogenic variants.
  • To describe the clinical and genetic findings in patients presenting with this phenotype.

Main Methods:

  • Retrospective case series involving four individuals from two unrelated families.
  • Clinical evaluation including electroretinography (ERG) and genetic testing for RPGRIP1 variants.

Main Results:

  • Four individuals presented with early-onset low vision, nystagmus, and photophobia, exhibiting non-recordable photopic ERG function with normal scotopic function.
  • Genetic analysis identified distinct homozygous RPGRIP1 variants in the two families.
  • One family showed progression to cone-rod dystrophy, while the other maintained stable isolated cone dysfunction over time.

Conclusions:

  • Biallelic RPGRIP1 pathogenic variants can manifest as isolated cone dysfunction, which may be stationary or progress to pan-retinal dysfunction.
  • This expands the known phenotypic spectrum of RPGRIP1-related retinal disorders.