Stone E M

Oh K T, Oh D M, Weleber R G, Stone E M, Parikh A, White J et al.

This study found the Arg135Leu rhodopsin mutation causes severe retinitis pigmentosa with distinct evolving stages, including early white dots, progressing to extensive atrophy. This mutation appears more severe than other rhodopsin changes.

Shepard A R, Jacobson N, Fingert J H, Stone E M, Sheffield V C, Clark A F

Dexamethasone indirectly induces MYOC gene expression in human TM cells, suggesting a complex mechanism beyond direct promoter activation. This sheds light on steroid-induced glaucoma pathophysiology.

Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y et al.

This study found four FOXC1 mutations, two novel, in four of six Japanese Axenfeld-Rieger syndrome families, confirming this gene's role in anterior segment maldevelopment and variable glaucoma severity.

Craig J E, Baird P N, Healey D L, McNaught A I, McCartney P J, Rait J L et al.

Studying Gln368STOP mutation families, researchers found this mutation causes earlier-onset, more severe glaucoma with higher IOP, often requiring surgery. This highlights its significant role in disease expression.

Fingert J H, Clark A F, Craig J E, Alward W L, Snibson G R, McLaughlin M et al.

This study found no significant link between MYOC gene variations and steroid-induced ocular hypertension in humans or monkeys, suggesting MYOC mutations aren't a primary cause of this condition.

Swiderski R E, Ross J L, Fingert J H, Clark A F, Alward W L, Stone E M et al.

MYOC gene expression was found in ocular outflow tissues and the optic nerve. This suggests myocilin's role in aqueous humor regulation and optic nerve health, potentially impacting glaucoma.

Jacobson D M, Stone E M, Miller N R, Pollock S C, Fletcher W A, McNussen P J et al.

This study found no visual-pupillomotor dissociation in LHON patients; measured RAPDs matched predicted values, indicating pupillary responses accurately reflect optic nerve damage, useful for diagnosis.

Stone E M, Fingert J H, Alward W L, Nguyen T D, Polansky J R, Sunden S L et al.

Researchers identified a gene (TIGR) on chromosome 1q causing primary open-angle glaucoma. Mutations in TIGR were found in 3.9% of patients, aiding early diagnosis and treatment.

Alward W L, Johnson A T, Nishimura D Y, Sheffield V C, Stone E M

Johnson A T, Drack A V, Kwitek A E, Cannon R L, Stone E M, Alward W L

This study characterized a family with severe, early-onset autosomal dominant juvenile glaucoma, finding high penetrance and excluding the Rieger's syndrome locus, suggesting a novel glaucoma gene.