NR2E3, also called photoreceptor‐specific nuclear receptor (PNR), is a transcription factor
of the nuclear hormone receptor superfamily whose expression is uniquely restricted to …

Photoreceptor development of the vertebrate visual system is controlled by a complex
transcription regulatory network. OTX2 is expressed in the mitotic retinal progenitor cells …

Purpose To describe the detailed phenotype, long-term clinical course, clinical variability,
and genotype of patients with enhanced S-cone syndrome (ESCS). Design Retrospective …

Ten new and seventeen previously reported Enhanced S Cone Syndrome (ESCS) subjects
were used to search for genetic heterogeneity. All subjects were diagnosed with ESCS on …

Mice lacking the transcription factor Nrl have no rod photoreceptors and an increased
number of short-wavelength-sensitive cones. Missense mutations in NRL are associated …

Retinitis pigmentosa is the most common form of retinal degeneration and is heterogeneous
both clinically and genetically. The autosomal dominant forms (ADRP) can be caused by …

Enhanced S-cone syndrome (ESCS) is mainly associated with mutations in the NR2E3
gene. However, rare mutations in the NRL gene have been reported in patients with ESCS …

The transcription factor neural retina leucine zipper (NRL) is required for rod photoreceptor
differentiation during mammalian retinal development. NRL interacts with CRX, NR2E3, and …

Regenerative medicine constitutes a potentially promising therapy for blind people suffering
from retinal degenerative diseases such as retinitis pigmentosa and age-related macular …

Purpose. Non-syndromic hereditary ocular diseases can lead to severe functional limitations
of vision at all ages. Therefore, molecular genetic research into the causes of hereditary …