Rosellina Guarascio

Keywords retinal dystrophy X-linked inter-chromosomal insertions retinal organoids long non-coding RNA circular RNA microRNA neurodegeneration structural variant Introduction Inherited retinal dystrophies are a group of clinically and genetically heterogeneous disorders characterized by visual disability consequent upon dysfunction and, often, progressive degeneration of rod and/or cone photoreceptors or retinal pigment epithelium (RPE).

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Abstract ABCA4–related–retinopathy is the most common inherited Mendelian eye disorder worldwide, caused by biallelic variants in the ATP-binding cassette transporter ABCA4. To date, over 2,200 ABCA4 variants have been identified, including missense, nonsense, indels, splice site and deep intronic defects. Notably, more than 60% are missense variants that can lead to protein misfolding, mistrafficking and degradation. Currently no approved therapies target ABCA4.