Novel disease-causing variant in rdh12 presenting with autosomal dominant retinitis pigmentosa

HIGHLIGHTS

• who: Manickam Nick Muthiah ‍ and collaborators from the Gene Therapy have published the research work: Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa, in the Journal: (JOURNAL)
• what: This work presents a detailed characterisation of the clinical and molecular features observed in a fourth, four-­generation British family harbouring a novel, dominant form of RDH12-­ retinopathy (c.763delG; (p.Val255Serfs*23)).
• how: The authors identified only one study with a cohort of 83 unaffected children aged 5-15 that reported the 5th and 95th percentiles of foveal TRT these . . .
  

   

  

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