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Dr. Lewis Thomas
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Genetic, clinical, and biological risk factors associated with optic nerve thinning in sickle cell disease

Source
Nature

Objectives

To determine whether adults with sickle cell disease (SCD) without glaucoma exhibit subclinical structural optic neuropathy (SON) on optical coherence tomography (OCT) and to identify genetic, clinical, and biologic correlates of optic nerve thinning.

Methods

Monocentric, retrospective cross-sectional study of 185 eyes from 96 adults with SCD (116 eyes/59 HbSS; 69 eyes/37 HbSC) and 40 eyes from 20 controls. Spectral-domain OCT measured Bruch’s membrane opening–minimum rim width (BMO-MRW), peripapillary retinal nerve fibre layer (RNFL), and macular ganglion cell complex (GCC). SON was defined as concordant thinning across all three parameters. Patient-clustered models with Holm adjustment compared groups; multivariable clustered logistic regression identified risk factors.