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1
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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
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Nat Genet
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2007
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2.16
|
|
2
|
Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.
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Ophthalmic Genet
|
2008
|
2.15
|
|
3
|
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
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Proc Natl Acad Sci U S A
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2005
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1.80
|
|
4
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SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
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Am J Med Genet A
|
2005
|
1.59
|
|
5
|
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.
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Invest Ophthalmol Vis Sci
|
2005
|
1.57
|
|
6
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Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
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Invest Ophthalmol Vis Sci
|
2007
|
1.54
|
|
7
|
IQCB1 mutations in patients with leber congenital amaurosis.
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Invest Ophthalmol Vis Sci
|
2011
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1.43
|
|
8
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The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
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Arch Ophthalmol
|
2004
|
1.25
|
|
9
|
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.
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Eur J Hum Genet
|
2003
|
1.21
|
|
10
|
Delivery from episcleral exoplants.
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Invest Ophthalmol Vis Sci
|
2006
|
0.90
|
|
11
|
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
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Mol Vis
|
2004
|
0.89
|
|
12
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Posterior polar cataract: genetic analysis of a large family.
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Ophthalmic Genet
|
2005
|
0.89
|
|
13
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Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
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Am J Ophthalmol
|
2008
|
0.88
|
|
14
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Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
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Am J Ophthalmol
|
2013
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0.82
|
|
15
|
Juvenile cataracts in a patient with histidinuria: case report.
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Ophthalmic Genet
|
2006
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0.75
|
|
16
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Retinal Disease in Marfan Syndrome: From the Marfan Eye Consortium of Chicago.
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Ophthalmic Surg Lasers Imaging Retina
|
2015
|
0.75
|
|
17
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Unilateral isolated microphthalmia inherited as an autosomal recessive trait.
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Ophthalmic Genet
|
2005
|
0.75
|