Ultrastructure of connecting cilia in different forms of retinitis pigmentosa
S. D. Barrong, M. H. Chaitin, S. J. Fliesler, D. E. Possin, S. G. Jacobson and A. H. Milam
Department of Ophthalmology, University of Washington, Seattle 98195-0001.
The connecting (sensory) cilium of rods and cones is the stalk that
separates the outer segment, which contains visual pigment in stacks of
membrane discs, from the inner segment, which contains cytoplasmic
organelles involved in protein synthesis. There are conflicting reports on
the occurrence of abnormal motile cilia in patients with retinitis
pigmentosa (RP) and very few ultrastructural studies of photoreceptor
connecting cilia in retinas from patients with RP. Defective connecting
cilia could lead to the outer segment atrophy and degeneration that are
characteristic of RP. The present study addresses the hypothesis that
photoreceptor connecting cilia, as observed in cross section by electron
microscopy, are defective in RP. We examined retinas from five patients
with RP and four controls and found morphologic defects in the connecting
cilia of one RP patient with type 2 Usher syndrome (86% abnormal, P less
than .0001) but not in our sample of patients with X-linked (n = 2),
simplex (n = 1), or autosomal dominant (n = 1) RP.
Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa with RPGR Mutations
Aleman et al.
IOVS 2007;48:4759-4765.
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Usher syndrome: molecular links of pathogenesis, proteins and pathways
Kremer et al.
Hum Mol Genet 2006;15:R262-R270.
ABSTRACT
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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
Moore et al.
J. Med. Genet. 2006;43:326-333.
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Developmental and Tissue Expression of Xenopus laevis RPGR
Shu et al.
IOVS 2006;47:348-356.
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Usher Syndrome Type 1 Associated With Primary Ciliary Aplasia
Tosi et al.
Arch Ophthalmol 2003;121:407-408.
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Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium
Liu et al.
J. Neurosci. 1999;19:6267-6274.
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Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
Self et al.
Development 1998;125:557-566.
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The Human EMAP-like Protein-70 (ELP70) Is a Microtubule Destabilizer That Localizes to the Mitotic Apparatus
Eichenmuller et al.
J. Biol. Chem. 2002;277:1301-1309.
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