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Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

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A PRPH2 gene variant causes varied retinal degeneration, including Stargardt disease and retinitis pigmentosa, in two siblings. This highlights the genetic and clinical heterogeneity of inherited retinal diseases.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • Inherited retinal diseases (IRDs) encompass a group of genetic disorders affecting the retina.
  • Pathogenic variants in the PRPH2 gene are associated with various IRDs, including retinitis pigmentosa and macular dystrophies.
  • Understanding the genotype-phenotype correlation is crucial for diagnosis and management of IRDs.

Purpose of the Study:

  • To investigate the clinical and genetic correlation of a specific PRPH2 gene variant (c.469 G>A p.(Asp157Asn)) in two siblings.
  • To describe the phenotypic presentation of this variant using ophthalmic examinations and multimodal imaging.
  • To analyze the inheritance pattern and clinical heterogeneity associated with PRPH2 variants.

Main Methods:

  • Comprehensive ophthalmic examinations including best-corrected visual acuity (BCVA), glare sensitivity testing.
  • Electrophysiological testing (electroretinography) to assess retinal function.
  • Autofluorescence imaging and optical coherence tomography (OCT) for structural retinal analysis.
  • DNA analysis for pathogenic variant screening in family members.

Main Results:

  • The siblings presented with varying degrees of visual impairment and increased glare sensitivity.
  • Multimodal imaging revealed macular deposits, photoreceptor loss, and retinal pigment epithelium (RPE) abnormalities.
  • Electrophysiology indicated rod and cone dysfunction, with differing severity between siblings.
  • Genetic analysis identified a heterozygous pathogenic variant (c.469 G>A p.(Asp157Asn)) in the PRPH2 gene, inherited in an autosomal dominant manner.

Conclusions:

  • Pathogenic variants in the PRPH2 gene can lead to a heterogeneous spectrum of retinal degeneration.
  • Clinical manifestations may include Stargardt retinopathy, autosomal dominant retinitis pigmentosa, and autosomal dominant cone-rod dystrophy.
  • The mode of inheritance can be autosomal dominant or autosomal recessive, emphasizing the complexity of PRPH2-associated retinal disorders.