Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features

van Huet R. A. C., Siemiatkowska A. M., ÖZGÜL R. K., Yucel D., Hoyng C. B., Banin E., ...More

ACTA OPHTHALMOLOGICA, vol.93, no.1, pp.83-94, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 93 Issue: 1
  • Publication Date: 2015
  • Doi Number: 10.1111/aos.12500
  • Journal Name: ACTA OPHTHALMOLOGICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.83-94
  • Keywords: clinical variability, MAK, non-syndromic, retinitis pigmentosa, LEBER CONGENITAL AMAUROSIS, ABNORMAL FUNDUS AUTOFLUORESCENCE, BARDET-BIEDL-SYNDROME, PROTEIN-KINASE, DISEASE EXPRESSION, MISSENSE MUTATION, RETINAL DYSTROPHY, FLAGELLAR LENGTH, CONE DYSTROPHY, RPGR GENE
  • Hacettepe University Affiliated: Yes

Abstract

Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our detailed clinical observations in patients with MAK-associated RP, including an assessment of syndromic symptoms frequently observed in ciliopathies.