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

van Huet, Ramon; Siemiatkowska, Anna; ÖZGÜL, RIZA; Yucel, Didem; Hoyng, Carel; Banin, Eyal; Blumenfeld, Anat; ROTENSTREICH, Ygal; RIEMSLAG, Frans; DEN HOLLANDER, Anneke; THEELEN, Thomas; COLLIN, Rob; VAN DEN BORN, L.; KLEVERING, B.

doi:10.1111/aos.12500

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

Atıf İçin Kopyala

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

ACTA OPHTHALMOLOGICA, cilt.93, sa.1, ss.83-94, 2015 (SCI İndekslerine Giren Dergi)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 93 Konu: 1
Basım Tarihi: 2015
Doi Numarası: 10.1111/aos.12500
Dergi Adı: ACTA OPHTHALMOLOGICA
Sayfa Sayıları: ss.83-94

Özet

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.