Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease.
Invest. Ophthalmol. Vis. Sci., 53(13):8232-7 (2012)
Recommendations for genetic testing of inherited eye diseases: report of the american academy of ophthalmology task force on genetic testing.
Ophthalmology., Nov;119(11):2408-10 (2012)
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Nat. Genet., Sep;44(9):972-4 (2012)
Bietti Crystalline Dystrophy
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Mol. Genet. Metab., May;106(1):18-24 (2012)
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
Eur. J. Hum. Genet., Aug;20(8):897-904 (2012)
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Hum. Mutat., Mar;33(3):457-66 (2012)
Variability in isopter position and fatigue during semi-automated kinetic perimetry.
Ophthalmologica., 227(3):166-72 (2012)
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
Invest. Ophthalmol. Vis. Sci., Dec;52(13):9665-73 (2011)
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
Invest. Ophthalmol. Vis. Sci., Oct;52(11):8166-73 (2011)
Acute macular outer retinopathy (AMOR): a reappraisal of acute macular neuroretinopathy using multimodality diagnostic testing.
Arch. Ophthalmol., Mar;129(3):365-8 (2011)
Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy.
Arch. Ophthalmol., Jan;129(1):30-9 (2011)
A unique case of autoimmune retinopathy associated with anti-alpha-enolase antibodies.
Case Rep Ophthalmol Med., 2011:371324 (2011)
The 'dark' side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark.
Paediatr Anaesth., Jan;21(1):65-71 (2011)
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Am. J. Hum. Genet., Nov;87(5):643-54 (2010)
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
Invest. Ophthalmol. Vis. Sci., Jan;52(1):292-302 (2011)
Electroretinographic findings in transplant chorioretinopathy.
Clin Ophthalmol., 4:777-83 (2010)
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genet. Med., Aug;12(8):512-6 (2010)
International Federation of Clinical Neurophysiology: recommendations for visual system testing.
Clin Neurophysiol., Sep;121(9):1393-409 (2010)
Leber Congenital Amaurosis