Abstract:
:Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone photoreceptor type, but near absence of function of the majority rod receptor. NR2E3 disease can also progress to blindness. How the human retina accommodates mis-specified types and numbers of neurons and advances to retinal degeneration are unknown. We studied the retinal organization in vivo of patients with NR2E3 mutations. Early human NR2E3 disease with S cone hyperfunction showed thickened retinal layers within an otherwise normally structured retina. With visual loss, however, lamination was coarse and there was a strikingly thick and bulging appearance to the retina, localized to an annulus encircling the central fovea. This pattern was not found in other retinal degenerations. The abnormal laminar retinal architecture of early NR2E3 disease may be due in part to larger cells with an S cone phenotype in place of rods that failed to differentiate. The later-stage dysplastic appearance suggests a previously unrecognized proliferative response in human retinal degeneration.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Jacobson SG,Sumaroka A,Aleman TS,Cideciyan AV,Schwartz SB,Roman AJ,McInnes RR,Sheffield VC,Stone EM,Swaroop A,Wright AFdoi
10.1093/hmg/ddh198subject
Has Abstractpub_date
2004-09-01 00:00:00pages
1893-902issue
17eissn
0964-6906issn
1460-2083pii
ddh198journal_volume
13pub_type
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