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Quasidominance in autosomal recessive -Leber congenital amaurosis.
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Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
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Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.
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Leber congenital amaurosis in a young female.
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Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
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Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.
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Iron overload and chelation modulates bisretinoid levels in the retina.
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Primary versus Secondary Elevations in Fundus Autofluorescence.
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本文引用的文献

1
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):5225-5236. doi: 10.1167/iovs.18-24708.
2
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242.
3
Rates of Bone Spicule Pigment Appearance in Patients With Retinitis Pigmentosa Sine Pigmento.
Am J Ophthalmol. 2018 Nov;195:176-180. doi: 10.1016/j.ajo.2018.07.036. Epub 2018 Aug 4.
4
Caring for Hereditary Childhood Retinal Blindness.
Asia Pac J Ophthalmol (Phila). 2018 May-Jun;7(3):183-191. doi: 10.22608/APO.201851. Epub 2018 Mar 14.
6
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
Br J Ophthalmol. 2017 Sep;101(9):1147-1154. doi: 10.1136/bjophthalmol-2016-309975. Epub 2017 Jul 8.
7
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Ophthalmic Genet. 2017 Dec;38(6):575-579. doi: 10.1080/13816810.2017.1323339. Epub 2017 May 17.
8
RDH12 retinopathy: novel mutations and phenotypic description.
Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19.
10
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1.

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