Eyes

fetal anomalies of eyes
9 November 2004

Types
hypertelorism
epicanthus
prominent eyes
prominent eyes
9 November 2004
fetal prominent eyes
familial exudative vitreoretinopathy
18 October 2004

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the retina and vitreous body.
Etiology
mutations in LRP5
Leber congenital amaurosis
20 September 2004
LCA, congenital retinal blindness
myopia
3 September 2004

Susceptibility
3q26
4q12
8p23
11p13 (PAX6 region)
22q12 (#15273935#)
eye colour
19 August 2004

References
Sturm RA, Frudakis TN. Eye colour: portals into pigmentation genes and ancestry. Trends Genet. 2004 Aug;20(8):327-32. PMID: #15262401#
retinal degeneration
4 May 2004

Physiopathology
Alternative splicing and retinal degeneration. (#23647439#)
Alternative splicing is highly regulated in tissue-specific and development-specific patterns, and it has been estimated that 15% of disease-causing point mutations affect pre-mRNA splicing.
Cis-acting splice site and trans-acting splicing factor mutations can affect pre-mRNA splicing and contribute to retinal degeneration.
Numerous splice site mutations have been identified in retinitis pigmentosa (RP) and (...)
photoreceptor degeneration
22 April 2004

References
Li T. Disease model: photoreceptor degenerations. Trends Mol Med. 2001 Mar;7(3):133-5. PMID: #11286785#
photoreceptors
22 April 2004

The retina consists of three main cellular layers (right): a rod cells (R) and cone cells (C) layer or photoreceptor layer, a layer of interneurons (bipolar interneurons, horizontal interneurons, amacrine cells) and the ganglion cell layer, whose axons form the optic nerve, connecting retina and brain.
The photoreceptors are oriented in the same plane as incoming light, which funnels through the inner to the OS.
The outer segment contains a dense array of light-sensitive, hollow discs, (...)
posterior embryotoxon
12 March 2004

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F. Pathology by regions