Your browser doesn't support javascript.
loading
Refractive errors in patients with Bardet Biedl syndrome.
Yavuz Saricay, Leyla; Baldwin, Grace; Moulton, Eric A; Gonzalez, Efren; Rajabi, Farah; Hunter, David G; Fulton, Anne B.
Afiliación
  • Yavuz Saricay L; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Baldwin G; Harvard Medical School, Boston, Massachusetts, USA.
  • Moulton EA; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Gonzalez E; Department of Anesthesia, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Brain and Eye Pain Imaging Lab, Pain and Affective Neuroscience Center, Boston, Massachusetts, USA.
  • Rajabi F; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hunter DG; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Ophthalmic Genet ; 45(5): 435-440, 2024 Oct.
Article en En | MEDLINE | ID: mdl-38953718
ABSTRACT

PURPOSE:

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy. Within corneal development, primary cilia serve a critical role. We sought to investigate the association of BBS with corneal astigmatism among a cohort of patients with BBS.

METHODS:

This was a cross-sectional, retrospective study performed at a pediatric ophthalmology department of a tertiary hospital. The study enrolled 45 patients with genetically confirmed Bardet-Biedl syndrome, encompassing a total of 90 eyes observed from February 2011 to August 2021. Spherical and cylindrical refractive errors and keratometry outcome measures, including diopter (D) values at the flattest and steepest axes, were recorded. Corneal astigmatism of greater than 3D is considered extreme corneal astigmatism based on previously published data.

RESULTS:

Among 45 patients (M26; F19), the mean age was 16.4 ± 8.2 years, and the mean best-corrected visual acuity was 20/60. The most common molecular diagnosis was BBS1, seen in 24 of 45 (53.3%). Among all the patients, the mean spherical refractive error was -2.9 ± 3.8D. The mean cylindrical refractive error was 2.6 ± 1.5D. The mean keratometry values at the flattest axis was 43.5 ± 5.3D (39.4-75.0) and at the steepest axis was 47.2 ± 7.3D(41.5-84.0). Among all the patients with BBS, the mean corneal astigmatism was 3.7 ± 1.0D(0.5-7.1), which is considered extreme.

CONCLUSION:

A cohort of individuals with BBS demonstrated high corneal astigmatism. These results suggest an association between corneal astigmatism and primary ciliary dysfunction and may assist in clinical management and future therapeutic targets among BBS and other corneal disorders.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores de Refracción / Agudeza Visual / Síndrome de Bardet-Biedl Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores de Refracción / Agudeza Visual / Síndrome de Bardet-Biedl Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido