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

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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-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 93 Sayı: 1
• Basım Tarihi: 2015
• Doi Numarası: 10.1111/aos.12500
• Dergi Adı: ACTA OPHTHALMOLOGICA
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.83-94
• Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

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.