Enhanced S-cone Syndrome, a Mini-review.
Adv Exp Med Biol
; 1415: 189-194, 2023.
Article
em En
| MEDLINE
| ID: mdl-37440033
ABSTRACT
Enhanced S-cone Syndrome (ESCS) is an autosomal recessive inherited retinal disease mostly associated with disease-causing variants in the NR2E3 gene. During retinal development in ESCS, rod photoreceptor precursors are misdirected to form photoreceptors similar to short-wavelength cones, or S-cones. Compared to a normal human retina, patients with ESCS have no rods and significantly increased numbers of S-cones. Night blindness is the main visual symptom, and visual acuity and color vision can be normal at early disease stages. Histology of donor eyes and adaptive optics imaging revealed increased S-cone density outside of the fovea compared to normal. Visual function testing reveals absent rod function and abnormally enhanced sensitivity to short-wavelength light. Unlike most retinal degenerative diseases, ESCS results in a gain in S-cone photoreceptor function. Research involving ESCS could improve understanding of this rare retinal condition and also shed light on the role of NR2E3 expression in photoreceptor survival.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Receptores Nucleares Órfãos
Limite:
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article