NRL -associated autosomal recessive retinopathy: novel variants expanding the phenotype, natural history and a comprehensive literature search

Background Neural retina leucine zipper (NRL) is a crucial transcription factor that plays a key role in the development and differentiation of photoreceptor cells. A variant in this gene can cause a retinal phenotype known as Enhanced S cone Syndrome (ESCS). This study presents three novel autosomal recessive (ar) NRL variants and expands the clinical ophthalmic phenotype of NRL-associated retinopathy to include microphthalmia.