Pregnancy-Associated deterioration of visual function in Retinitis Pigmentosa Due to CDHR1 Mutation: A Case Report

Background : Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies leading to progressive photoreceptor degeneration. CDHR1 gene mutations represent a rare cause of autosomal recessive RP. Case Presentation : A 25-year-old pregnant female presented with worsening nyctalopia and vision. Her visual symptoms began during the first trimester and progressed rapidly. Fundus examination showed scattered pigment deposits, Mid-periphery of the retina and macular atrophy sparing the fovea, and a pale optic disc. Full-field electroretinography revealed extinguished photopic and scotopic responses, and OCT confirmed outer retinal atrophy. Genetic testing identified a homozygous nonsense mutation in CDHR1, consistent with autosomal recessive RP. No systemic features of syndromic RP were present. Conclusion : This case highlights a potential association between pregnancy and the accelerated progression of CDHR1-associated RP, suggesting that hormonal and vascular changes may exacerbate retinal degeneration. Close monitoring during pregnancy is advised for patients with inherited retinal dystrophies.