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Article
Open AccessBroadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inher...
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Angioid Streaks
Angioid streaks, which appear as jagged lines extending from the optic disc, were first described in 1889 by Doyne and then given their current name by Knapp in 1892 due to their vascular appearance (Clarkson ...
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Article
Open AccessAssembly of the outer retina in the absence of GABA synthesis in horizontal cells
The inhibitory neurotransmitter gamma-amino-butyric acid (GABA) not only modulates excitability in the mature nervous system but also regulates neuronal differentiation and circuit development. Horizontal cell...
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Article
Transient neurites of retinal horizontal cells exhibit columnar tiling via homotypic interactions
Tiling describes the arrangement of neuronal processes in a pattern with little or no overlap with those of neighboring neurons. It is unclear how this is mediated in the vertebrate retina, whose mosaic cell b...
