Latest papers

Sister cases of Behcet's disease and Vogt-Koyanagi-Harada disease.

Clinical manifestation of a novel PAX6 mutation Arg128Pro.

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.

Clinical characterization and genetic mapping of North Carolina macular dystrophy.

Versatility of AAV vectors for retinal gene transfer.

Familial aggregation of age-related macular degeneration in the Utah population.

Nanoparticle applications in ocular gene therapy.

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies.

Characterisation and management of vitreous and nerve amyloid in familial amyloid polyneuropathy due to variant transthyretin, Phe33Val.

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.

[Familial exudative vitreoretinopathy associated with persistence of hyaloid artery].

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

Inherited ocular disorders, ophthalmic procedures and carnitines.

Adverse effects of excessive nitric oxide on cytochrome c oxidase in lenses of hereditary cataract UPL rats.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF.

Eyeing a new network.

Outcomes of surgery for retinal detachment in patients with Stickler syndrome: a comparison of two sequential 20-year cohorts.

Involvement of interleukin 18 in cataract development in hereditary cataract UPL rats.