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Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
TLDR
This study reports that mutations in TSPAN12 also cause autosomal-dominant FEVR, and provides further evidence for the importance of the Norrin-beta-catenin signaling pathway in the development of the retinal vasculature. Expand
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
TLDR
A significant enrichment of potentially pathologic heterozygous alleles in ZNF469 associated with the development of keratoconus is found resulting in a relative risk of 12.0.5% in 12% of ker atoconus patients, highlighting Z NF469 as the most significant genetic factor responsible for keratconus identified to date. Expand
Mutational analysis of MIR184 in sporadic keratoconus and myopia.
TLDR
Investigation of the phenotypic spectrum resulting from MIR184 mutation found no significant association of rs41280052, which lies within the stem-loop of miR-184, with keratoconus, and two novel heterozygous substitution mutations in MIR 184 were identified in two patients with isolated keratconus. Expand
Novel mutations in the small leucine‐rich repeat protein/proteoglycan (SLRP) genes in high myopia
TLDR
New insight is provided into the genetics of high myopia, suggesting that sequence variations in the SLRP genes expressed in the eye may be among the genetic risk factors underlying the pathogenesis of highMyopia. Expand
Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome
TLDR
The observations suggest that CHED caused by homozygous SLC4A11 mutations progresses to Harboyan syndrome, but the severity of this may vary considerably, and patients with CHED should therefore be monitored for progressive hearing loss. Expand
Replication of the recessive STBMS1 locus but with dominant inheritance.
TLDR
This study confirms that PNCE can result from sequence variants in an unknown gene at the STBMS1 locus, however, this locus accounts for only a proportion of cases, and other genetic loci remain to be identified. Expand
Endothelial Cell Survival and Graft Profile Analysis in Descemet Stripping Endothelial Keratoplasty
TLDR
DSEK is a positive alternative to PK in the treatment of endothelial dysfunction, visual function improves and the associated refractive change is negligible, and graft survival over 2 years is high. Expand
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma
TLDR
The absence of any abnormalities in the FOXE3 heterozygotes described suggests that genetic background and environmental factors plays a role in the penetrance of the mutant allele. Expand
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.
TLDR
Two new loci are identified, one on chromosome 10cen and the other on 2ptel or 20p, that are associated with recessively inherited congenital cataract-microcornea with corneal opacity, which is genetically heterogeneous in the Pakistani population. Expand
Mid-term outcomes of penetrating keratoplasty (PK) and deep anterior lamellar keratoplasty (DALK)
Mid-term outcomes of penetrating keratoplasty (PK) and deep anterior lamellar keratoplasty (DALK)
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