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Ophthalmic Genetics|May 22, 2025
Ȧland Island eye disease in two patients harboring novel CACNA1F variantsAnna Duemler, Hua Gao, Jennifer Powell, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 4, 2015
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 geneMichael Philip Hood, Natalie Christine Kerr, Nizar Smaoui, et al.
Investigative Ophthalmology & Visual Science|May 7, 2026
Pilot Study of Patient-Reported Outcomes in Stargardt Disease: Correlation With Functional and Structural FindingsJohnson Hoang, Iden Amiri, Lauren Dimalanta, et al.
American Journal of Ophthalmology|October 7, 2008
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamideAlessandro Iannaccone, Kenneth H Fung, Mari E Eyestone, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|May 10, 2012
Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual lossGiovannella Carboni, Gina Forma, April D Bond, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|August 19, 2007
Clinical and functional findings in choroideremia due to complete deletion of the CHM geneMarco Mura, Christina Sereda, Monica M Jablonski, et al.
Foods (Basel, Switzerland)|February 24, 2017
Macular Pigment Optical Density and Measures of Macular Function: Test-Retest Variability, Cross-Sectional Correlations, and Findings from the Zeaxanthin Pilot Study of Response to Supplementation (ZEASTRESS-Pilot)Alessandro Iannaccone, Giovannella Carboni, Gina Forma, et al.
Ophthalmic Genetics|June 5, 2026
Mucopolysaccharidosis type I with retinal degeneration and absence of corneal involvement in the eighth decade of lifeMichael Miltich, Leelabati Biswas, Anna Duemler, et al.
Journal of Neuroscience Research|January 29, 2002
Downregulation of a unique photoreceptor protein correlates with improper outer segment assemblyAmira Wohabrebbi, Edward S Umstot, Alessandro Iannaccone, et al.
Ophthalmic Genetics|September 3, 2015
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH GeneJustin Wilkin, Natalie C Kerr, Kathryn W Byrd, et al.
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