Optic nerve head drusen

Davis, Patricia L.; Jay, Walter M.

doi:10.1080/08820530390895244

Cited by 90 publications

(98 citation statements)

References 57 publications

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“…Papilledema was defined as optic nerve head swelling due to raised intracranial pressure, 15,16 whereas pseudopapilledema was defined as optic nerve head elevation present in conjunction with anomalous optic nerves and/or buried optic nerve head drusen. 17 Patients with insufficient follow-up time, lack of fundus photography, and aged o18 years were excluded from the study. The study design was approved by the University of Pennsylvania institutional review board.…”

Section: Methodsmentioning

confidence: 99%

The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema

Carter

Pistilli

Livingston

et al. 2014

Eye

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Purpose To determine the sensitivity and specificity of orbital ultrasonography in distinguishing papilledema from pseudopapilledema in adult patients. Methods The records of all adult patients referred to the neuro-ophthalmology service who underwent orbital ultrasonography for the evaluation of suspected papilledema were reviewed. The details of history, ophthalmologic examination, and results of ancillary testing including orbital ultrasonography, MRI, and lumbar puncture were recorded. Results of orbital ultrasonography were correlated with the final diagnosis of papilledema or pseudopapilledema on the basis of the clinical impression of the neuro-ophthalmologist. Ultrasound was considered positive when the optic nerve sheath diameter was Z3.3 mm along with a positive 301 test. Results The sensitivity of orbital ultrasonography for detection of papilledema was 90% (CI: 80.2-99.3%) and the specificity in detecting pseudopapilledema was 79% (CI: 67.7-90.7%). Conclusions Orbital ultrasonography is a rapid and noninvasive test that is highly sensitive, but less specific in differentiating papilledema from pseudopapilledema in adult patients, and can be useful in guiding further management of patients in whom the diagnosis is initially uncertain.

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Section: Methodsmentioning

confidence: 99%

The role of orbital ultrasonography in distinguishing papilledema from pseudopapilledema

Carter

Pistilli

Livingston

et al. 2014

Eye

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“…The association between drusen and retinitis pigmentosa is well established and the incidence of the combination has been reported to be between 0 and 10%. 11 The association between JS and optic disc drusen has not been earlier reported. However, as optic disc drusen are commonly seen in clinical routine, random coincidence cannot be excluded.…”

Section: Discussionmentioning

confidence: 92%

“…The prevalence of optic nerve drusen has been estimated between o0.4% and 3.7%. 11 Both affected patients had signs of retinal dystrophy. The association between drusen and retinitis pigmentosa is well established and the incidence of the combination has been reported to be between 0 and 10%.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmological findings in Joubert syndrome

Sturm

Leiba

Menke

et al. 2009

Eye

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Purpose Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings. Methods In a retrospective study, 10 consecutive patients, who met the revised diagnostic criteria of JS were included. Mutation analysis was carried out in all the cases. Each patient underwent a comprehensive neuro-ophthalmological examination.Results Bilateral drusen of the optic disc were found in two patients. Four patients showed bilateral morphological and functional signs of retinal dystrophy (CEP290 mutation in two cases and AHI1 mutation in one case). In nine patients performance during smooth pursuit, saccades, and vestibulo-ocular reflex (VOR) cancellation was poor. Conclusions To the best of our knowledge, the association of optic disc drusen with JS has not yet been described. In support of the earlier findings, decreased smooth pursuit and VOR cancellation, as well as partial-tocomplete oculomotor apraxia seem to be the key oculomotor features of JS. Genotypephenotype correlations showed the predictive value of CEP290 and AHI1 mutations for retinal involvement.

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“…They can be an incidental finding in routine ophthalmologic exams. Most optic disc drusen remain asymptomatic (Davis and Jay 2003), but upon thorough investigation visual field defects can be detected in up to 90% (Gaynes and Towle 1967;Savino et al 1979). The funduscopic discrimination between papilledema and pseudopapilledema is not trivial, as the term "pseudopapilledema" already indicates.…”

Section: Miscellaneousmentioning

confidence: 89%