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Suspected Enhanced S-Cone Syndrome: A Case Report
Enhanced S-cone syndrome (ESCS) is a rare type of retinal dystrophy disorder that is linked to NR2E3 gene mutation and NRL gene mutations less widely. The disease is characterized by increased S-cones number and marked degeneration in rods and M- and L-cone receptors. The patient suffers from night...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10505071/ https://www.ncbi.nlm.nih.gov/pubmed/37719593 http://dx.doi.org/10.7759/cureus.43660 |
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author | Alnosair, Ghadah Aljayani, Rabab |
author_facet | Alnosair, Ghadah Aljayani, Rabab |
author_sort | Alnosair, Ghadah |
collection | PubMed |
description | Enhanced S-cone syndrome (ESCS) is a rare type of retinal dystrophy disorder that is linked to NR2E3 gene mutation and NRL gene mutations less widely. The disease is characterized by increased S-cones number and marked degeneration in rods and M- and L-cone receptors. The patient suffers from night blindness from an early age. Examination of the fundus of the eye shows nummular pigmented lesions, but they are not specific to ESCS. The diagnosis can be confirmed with electroretinography. We report a case of a four-year-old girl suspected of having ESCS based on her clinical picture, fundus examination, and electroretinography. |
format | Online Article Text |
id | pubmed-10505071 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-105050712023-09-17 Suspected Enhanced S-Cone Syndrome: A Case Report Alnosair, Ghadah Aljayani, Rabab Cureus Ophthalmology Enhanced S-cone syndrome (ESCS) is a rare type of retinal dystrophy disorder that is linked to NR2E3 gene mutation and NRL gene mutations less widely. The disease is characterized by increased S-cones number and marked degeneration in rods and M- and L-cone receptors. The patient suffers from night blindness from an early age. Examination of the fundus of the eye shows nummular pigmented lesions, but they are not specific to ESCS. The diagnosis can be confirmed with electroretinography. We report a case of a four-year-old girl suspected of having ESCS based on her clinical picture, fundus examination, and electroretinography. Cureus 2023-08-17 /pmc/articles/PMC10505071/ /pubmed/37719593 http://dx.doi.org/10.7759/cureus.43660 Text en Copyright © 2023, Alnosair et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Ophthalmology Alnosair, Ghadah Aljayani, Rabab Suspected Enhanced S-Cone Syndrome: A Case Report |
title | Suspected Enhanced S-Cone Syndrome: A Case Report |
title_full | Suspected Enhanced S-Cone Syndrome: A Case Report |
title_fullStr | Suspected Enhanced S-Cone Syndrome: A Case Report |
title_full_unstemmed | Suspected Enhanced S-Cone Syndrome: A Case Report |
title_short | Suspected Enhanced S-Cone Syndrome: A Case Report |
title_sort | suspected enhanced s-cone syndrome: a case report |
topic | Ophthalmology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10505071/ https://www.ncbi.nlm.nih.gov/pubmed/37719593 http://dx.doi.org/10.7759/cureus.43660 |
work_keys_str_mv | AT alnosairghadah suspectedenhancedsconesyndromeacasereport AT aljayanirabab suspectedenhancedsconesyndromeacasereport |