Abstract：
PURPOSE:Primary congenital glaucoma (PCG) is an autosomal recessive disorder that has been linked to CYP1B1 mutations. This study was conducted to explore the role of FOXC1, which is involved in anterior segment dysgenesis, in PCG. METHODS:An earlier screening for CYP1B1 in a clinically well-characterized PCG cohort (n = 301) revealed cases that were either homozygous (n = 73), compound heterozygous (n = 18), or heterozygous (n = 41) for the mutant allele, whereas the remaining (n = 169) did not harbor any mutation. Hence, FOXC1 was screened in 210 PCG cases who were either heterozygous (n = 41) or did not harbor any CYP1B1 mutation (n = 169), along with ethnically matched normal control subjects (n = 157) by resequencing the entire coding region. RESULTS:Two heterozygous missense (H128R and C135Y) and three frame shift mutations (g.1086delC, g.1155del9bp, and g.1947dup25bp) were observed in FOXC1 in 5 (2.38%) of 210 cases. The missense mutations had a de novo origin in two sporadic cases, whereas the FOXC1 deletions were seen in two cases that were also heterozygous for the CYP1B1 allele (R368H). The parents of the proband with g.1086delC were heterozygous for either the FOXC1 or CYP1B1 alleles. The unaffected mother of the proband with the g.1155del9bp was heterozygous for both the FOXC1 and CYP1B1 alleles; the father harbored only the FOXC1 allele. Familial segregation of the g.1947dup25bp could not be performed because of the unavailability of DNA from one parent. Except for the g.1155del9bp (0.95% normal chromosomes), all the other variations were absent in the control subjects. CONCLUSIONS:The present study indicates a limited role of FOXC1 in PCG pathogenesis.
journal_name
Invest Ophthalmol Vis Scijournal_title
Investigative ophthalmology & visual scienceauthors
Chakrabarti S,Kaur K,Rao KN,Mandal AK,Kaur I,Parikh RS,Thomas Rdoi
10.1167/iovs.08-2253subject
Has Abstractpub_date
2009-01-01 00:00:00pages
75-83issue
1eissn
0146-0404issn
1552-5783pii
iovs.08-2253journal_volume
50pub_type
杂志文章abstract：PURPOSE:To quantify the spatial and temporal nature of congenital periodic alternating nystagmus (PAN) and to test the hypothesis that PAN results from a temporal shift in the null zone. METHODS:Twenty-five subjects with oculocutaneous albinism (16 tyrosinase negative and 9 tyrosinase positive) and 7 with ocular albin...
journal_title：Investigative ophthalmology & visual science
pub_type： 杂志文章
doi：
更新日期：1994-11-01 00:00:00
abstract：PURPOSE:To characterize photoreceptor cell apoptosis and cell loss in a mouse model of experimental retinal detachment (RD), and to use the technology of mouse genetics to study the molecular mechanisms underlying RD-associated photoreceptor degeneration. METHODS:Retinal detachments were created in adult wild-type and...
journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：2001-03-01 00:00:00
abstract：:The temporal modulation sensitivity function was studied in eight strabismic and/or anisometropic amblyopes and in two subjects with amblyopia resulting from monocular stimulus deprivation (cataract and ptosis). Half of the strabismic/anisometropic amblyopes showed a reduction in the sensitivity of the amblyopic eye. ...
journal_title：Investigative ophthalmology & visual science
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更新日期：1982-04-01 00:00:00
abstract：PURPOSE:To evaluate the effects of 5-fluorouracil (5-FU) on ocular cells in vitro and the effects of degradable 5-FU-loaded poly(DL-lactide-co-glycolide; PDLGA) 50:50 implant in the rabbit eye in vivo. METHODS:Cytotoxicity was assessed with a tetrazolium salt WST-1 cell proliferation/viability test and a lactate dehyd...
journal_title：Investigative ophthalmology & visual science
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abstract：PURPOSE:To examine the behavior of fibroblasts and retinal pigment epithelial cells after attachment to the retinal surface in vitro to elucidate the pathobiology of the early stages of epiretinal membrane formation. METHODS:Human retinal pigment epithelial (HRPE) cells and bovine Tenon's capsule fibroblasts (BTFs) we...
journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：1996-02-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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doi：
更新日期：2002-03-01 00:00:00
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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journal_title：Investigative ophthalmology & visual science
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doi：
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journal_title：Investigative ophthalmology & visual science
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doi：
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journal_title：Investigative ophthalmology & visual science
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doi：
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