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Co-occurring Usher syndrome Type 1 and Renal Failure.
Le, Hong; Anderson, Helen; Lopez, Glydel; Bayer-Vile, Julie; Al-Saif, Hind; Couser, Natario.
Afiliación
  • Le H; Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
  • Anderson H; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
  • Lopez G; Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
  • Bayer-Vile J; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Children's Hospital of Richmond at VCU, Richmond, VA, USA.
  • Al-Saif H; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.
  • Couser N; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Children's Hospital of Richmond at VCU, Richmond, VA, USA.
Retin Cases Brief Rep ; 2024 Mar 08.
Article en En | MEDLINE | ID: mdl-38470933
ABSTRACT

PURPOSE:

To describe a patient with a rare co-occurrence of Usher syndrome type 1C (USH1C) and renal disease, suspected to be secondary to Alport syndrome.

METHOD:

Case report and literature review of cases with Usher syndrome and renal failure. Clinical examination, color fundus photography, visual field tests, electroretinography and whole exome sequencing were used to diagnose and document the patient's clinical presentation.

RESULTS:

An 18-year-old female with known history of congenital hearing loss and chronic renal failure, presents with progressive night and peripheral visual impairment suspicious for an inherited retinal disease. Visual field testing, fundus exam and electroretinography findings supported the diagnosis of Usher syndrome. Whole exome sequencing (WES) identified a novel homozygous frameshift variant (c.238del) in USH1C. WES also identified a homozygous COL4A3 variant of unknown significance, which may be responsible for concomitant Alport syndrome.

CONCLUSION:

By presenting this rare case of co-occurring Usher syndrome Type 1 and renal failure, we highlight the importance of conducting further investigations that could reveal an additional underlying etiology when these entities are present.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Retin Cases Brief Rep Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Retin Cases Brief Rep Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos