Problems in CSF and Ophthalmic Disease Research

Machiele, Ryan; Frankfort, Benjamin J.; Killer, Hanspeter E.; Fleischman, David

doi:10.3389/fopht.2022.896680

Cited by 5 publications

(6 citation statements)

References 58 publications

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“…The rs4937515 was also in LD ( r 2 ≥ 0.6) 63 with known genetic risk variants of glaucoma (index variant rs2875238) 55 . The CSF is the primary fluid within the central nervous system, and the biological role of CSF pressure has been well-established in glaucoma and other ophthalmic diseases 64, 65 . Our results provide further evidence of genetic links underlying the connections between CSF and eye disorders.…”

Section: Resultsmentioning

confidence: 99%

Eye-brain connections revealed by multimodal retinal and brain imaging genetics in the UK Biobank

Zhao

Fan

et al. 2023

Preprint

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As an anatomical extension of the brain, the retina of the eye is synaptically connected to the visual cortex, establishing physiological connections between the eye and the brain. Despite the unique opportunity retinal structures offer for assessing brain disorders, less is known about their relationship to brain structure and function. Here we present a systematic cross-organ genetic architecture analysis of eye-brain connections using retina and brain imaging endophenotypes. Novel phenotypic and genetic links were identified between retinal imaging biomarkers and brain structure and function measures derived from multimodal magnetic resonance imaging (MRI), many of which were involved in the visual pathways, including the primary visual cortex. In 65 genomic regions, retinal imaging biomarkers shared genetic influences with brain diseases and complex traits, 18 showing more genetic overlaps with brain MRI traits. Mendelian randomization suggests that retinal structures have bidirectional genetic causal links with neurological and neuropsychiatric disorders, such as Alzheimer's disease. Overall, cross-organ imaging genetics reveals a genetic basis for eye-brain connections, suggesting that the retinal images can elucidate genetic risk factors for brain disorders and disease-related changes in intracranial structure and function.

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Section: Resultsmentioning

confidence: 99%

Eye-brain connections revealed by multimodal retinal and brain imaging genetics in the UK Biobank

Zhao

Fan

et al. 2023

Preprint

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“…Friedman's criteria are considered the gold standard for diagnosis in most centers today. Since 2013, several studies on IIH have been published, many of which discuss the inaccuracy of LPOP and how it differs across age, sex, and BMI (2-4) (5)(6)(7)(8)(9).…”

Section: Introductionmentioning

confidence: 99%

“…This group is often diagnosed with chronic headaches or migraines despite having IIH-related symptoms and neuroimaging findings. Some studies suggest using 200 mmH 2 O LPOP as a criterion or using prolonged manometry (9,11,23)…”

Section: Introductionmentioning

confidence: 99%

Radiological signs supporting idiopathic intracranial hypertension in symptomatic patients with lumbar puncture opening pressure < 250 mm.

Horev,

Eliav,

Sherer

et al. 2024

Preprint

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Objective Lumbar puncture opening pressure (LPOP) exceeding 250mmH2O stands as a pivotal criterion in diagnosing idiopathic intracranial hypertension (IIH), according to the revised Friedman’s criteria. However, many studies discuss the variability of LPOP, while others highlight the accuracy of radiological findings as a credible diagnostic tool for IIH. We have encountered many symptomatic patients who did not meet the LPOP criteria (with or without papilledema), despite having IIH-related symptoms and neuroimaging findings. This study aimed to investigate the radiological findings and clinical symptoms in patients suspected of having IIH without meeting the LPOP criteria. Methods We retrospectively evaluated cerebral venous sinus stenosis using the conduit Farb score (CFS) as well as other radiological findings suggestive of IIH by computed tomography venography and magnetic resonance venography in female patients ≥18 years of age with chronic headaches and suspected IIH with an LPOP <250mm. Results Our cohort comprised eighty-eight women (56 with LPOP < 200 mm H2O and 32 with LPOP ranging between 200-250 mmH2O). Among patients with LPOP in the 200-250 mmH2O range, 40% (12 patients) exhibited three or more radiological findings supporting IIH, compared to 17% (8 patients) in the LPOP < 200 mmH2O group (p=0.048). Furthermore, cerebral venous stenosis, as measured by a Conduit Farb Score (CFS) of 5 or lower, was observed in 80% (24 patients) of the LPOP 200-250 mmH2O group, contrasting with 40% (19 patients) in the LPOP < 200 mmH2O group (p<0.001). Conclusion Cerebral venous stenosis, as well as other supportive radiological findings, were significantly more common in patients with LPOP 200-250 mmH2O than LPOP<200 mmH2O. These findings suggest that given supportive clinical and radiological evidence, patients with LPOP between 200-250 mmH2O, with or without papilledema, may benefit from treatment for IIH.

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mentioning

confidence: 99%

“…Second, the translaminar area is not known. The term translaminar itself is misleading because the area involved is not the circle that represents the optic nerve diameter but a small ring annulus disrupted by trabeculae (6). Furthermore, the authors did not render information about why acetazolamide had to be continued in 19 patients after ONSF.…”

mentioning

confidence: 99%