Ophthalmic abnormalities of Pai syndrome: A case report and review of literature.
Published in Ophthalmic genetics
Interactions among different genetic loci in age-related macular degeneration.
Published in Ophthalmic genetics
Among different genotype combinations ARMS2-CFH and CFH-C3 combinations have the most significant levels of synergism and C3-CFI combination has the most significant level of antagonism in AMD patients.
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential ...
Published in Ophthalmic genetics
Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional ...
New pathogenic variant in the FGF10 gene in the agenesis of lacrimal and salivary gland syndrome: Ophthalmological and g...
Published in Ophthalmic genetics
Aplasia/agenesis of lacrimal and salivary glands is a rare congenital defect that has been associated with disturbances in fibroblast growth factor 10 (FGF10). It can present with symptoms of congenital lacrimal obstruction, dry eye, and dry mouth. We report the ophthalmological and genetic study of a 19-year-old woman and her relatives suffering f...
Unusual retinopathy in a child with severe combined immune deficiency.
Published in Ophthalmic genetics
We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of conge...
Ocular biometry and determinants of refractive error in a founder population of European ancestry.
Published in Ophthalmic genetics
The Hutterites are more myopic than most other North American and European populations. Greater time spent doing near work and less time spent outdoors likely explain the increased myopia comparing females to males.
Bilateral macular holes and a new onset vitelliform lesion in Best disease.
Published in Ophthalmic genetics
Macular hole is an unusual but severe complication in the end stage of BVMD as the macular thinning is accompanied with vitreous traction. A vitrectomy surgery is effective to close the hole while further study is required to elucidate the pathophysiology of macular hole formation and the new vitelliform lesion in such a case.
Long-term audiologic follow-up of carboplatin-treated children with retinoblastoma.
Published in Ophthalmic genetics
We observed no clear effect between carboplatin administration in young children and clinical significant ototoxicity in the long term. One child showed low-grade bilateral high-frequency hearing loss.
Ultra-widefield fundus autofluorescence patterns in retinitis pigmentosa and other retinal dystrophies.
Published in Ophthalmic genetics
SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular are...
Published in Ophthalmic genetics
SCARB1 rs5888 and environmental oxidative stress have a prominent role in ARMD susceptibility, early ARMD progression to advanced stage disease and even in the outcome of the disease-an area of macular lesion.
