RPGRIP1 variant associated with pigmented paravenous chorioretinal atrophy

Area of Science:

• Ophthalmology
• Medical Genetics
• Retinal Diseases

Background:

• Pigmented Paravenous Chorioretinal Atrophy (PPCRA) is a rare retinal disorder.
• The genetic underpinnings of PPCRA are not fully understood, with limited genes identified.

Purpose of the Study:

• To document a case of PPCRA associated with a novel dominant variant in the RPGRIP1 gene.
• To contribute to the understanding of the genetic spectrum of PPCRA.

Main Methods:

• A case report detailing a patient with suspected retinitis pigmentosa.
• Multimodal retinal imaging including OCT, OCT Angiography, and autofluorescence.
• Next-generation sequencing for genetic analysis.

Main Results:

• The patient presented with bilateral paravenous pigmentary changes and chorioretinal atrophy.
• Genetic testing revealed a likely pathogenic heterozygous deletion (c.631del) in the RPGRIP1 gene, leading to a premature stop codon (p.Ser211Valfs*64).

Conclusions:

• A novel, likely pathogenic RPGRIP1 variant (c.631del) is associated with PPCRA.
• This case broadens the genotypic spectrum of PPCRA.
• Further research is needed to elucidate the molecular mechanisms linking RPGRIP1 variants to PPCRA.