Optic disc elevation in Down syndrome

Al-Hemidan, Amal; Al-Hazzaa, Selwa A.F.; Chavis, Pamela S.; Al-Hussein, Hailah

doi:10.1076/opge.20.1.45.2297

Cited by 15 publications

(9 citation statements)

References 11 publications

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“…Despite the obvious ocular problems, in light of the unique challenges of retinal imaging in children, there are few reports on retinal structure in children with Down syndrome. We occasionally see case reports on Down syndrome children with bilateral macular coloboma [25], optic disc elevation, or other retinal abnormalities [26][27][28]. Although there are published reports discussing these issues, much of the current data are considerably variable.…”

Section: Introductionmentioning

confidence: 84%

Macular structural characteristics in children with Down syndrome

O'Brien

Wang

Smith

et al. 2015

Graefes Arch Clin Exp Ophthalmol

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Section: Introductionmentioning

confidence: 84%

Macular structural characteristics in children with Down syndrome

O'Brien

Wang

Smith

et al. 2015

Graefes Arch Clin Exp Ophthalmol

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“…Several ophthalmic disorders including palpebral abnormalities, lacrimal drainage problems, refractive errors, cataracts, strabismus, nystagmus, keratoconus, glaucoma, and iris abnormalities have been commonly reported (1)(2)(3)(4)(5). Fundus anomalies such as optic disc elevation, retinal detachment, Leber congenital amaurosis, and retinoblastoma have also been reported (2,(5)(6)(7)(8)(9)(10). Macular coloboma associated with Down syndrome has been reported by Yamaguchi and Tamai (11).…”

Section: Introductionmentioning

confidence: 99%

Bilateral Congenital Macular Coloboma in a Boy with down Syndrome

Hayasaka

2004

European Journal of Ophthalmology

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“…Optic disc elevation, caused either by pseudo papilledema (16, 18, 23, 52) or true papilledema (15), has already been related to Down syndrome in the literature. It is therefore essential to differentiate pseudo papilledema from true papilledema in children with Down syndrome as some of their associated comorbidities can cause an increase in intracranial pressure (15).…”

Section: Discussionmentioning

confidence: 99%

Abnormalities of the Optic Nerve in Down Syndrome and Associations With Visual Acuity

Postolache

2019

Front. Neurol.

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Background: Various ocular anomalies are present in the vast majority of individuals with Down syndrome; however, we know little about optic nerve abnormalities. The aim of this cross-sectional comparative study was to describe optic disc morphology in patients with Down syndrome and to determine if the differences found are potentially related to visual acuity. Subjects/methods: Assessable fundus images were obtained in 50 children with Down syndrome and 52 children without Down syndrome. Morphological analysis of the optic nerve was performed, including the disc-to-macula distance (DM) to disc diameter (DD) ratio (DM/DD), the cup-to-disc ratio and optic disc ovality. Data relating to ophthalmological status were retrospectively analyzed to evaluate the possible causes of reduced visual acuity. Results: DM/DD was significantly larger ( p = 0.0036) and the cup-to-disc ratio was significantly smaller ( p = 0.018) in children with Down syndrome, compared to controls. The optic discs were also more frequently torted ( p = 0.034), tilted ( p = 0.0049) and oval ( p = 0.026). Furthermore, crescents ( p = 0.0002), peripapillary atrophy ( p = 0.0009), and pigment anomalies ( p < 0.0001) were also more prevalent in children with Down syndrome than in those without. Visual acuity was significantly lower in children with Down syndrome compared to controls with similar refraction problems and strabismus prevalence ( p < 0.0001). The mean DM/DD and the presence of a crescent was not directly related to visual acuity ( r = 0.39, p = 0.31), ( r = 0.35, p = 0.12) respectively. Visual acuity was diminished in 80% of children with Down syndrome and the smallest discs and in 84% of those with tilted discs. However, other causes may contribute to the diminished visual acuity in these cases. Conclusion: The optic nerve head in children with Down syndrome is affected by various anatomical and developmental abnormalities. Unrelated to refraction (spherical equivalent), the optic discs appear smaller and more frequently mal-inserted in Down syndrome. Optic disc hypoplasia, as well as severe tilting, may reduce vision but they do not represent major contributors to the decrease of vision in such children. As these children often have multiple ocular and neurosensory problems, it remains challenging to relate visual acuity problems with a specific abnormality. Smaller discs may lead to optic disc drusen formation in children with Down syndrome.

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Optic disc elevation in Down syndrome

Abstract: We believe that in most Down syndrome patients with disc elevation, fluorescein angiography and/or clinical follow-up may be sufficient.

Cited by 15 publications

References 11 publications

Macular structural characteristics in children with Down syndrome

Macular structural characteristics in children with Down syndrome

Bilateral Congenital Macular Coloboma in a Boy with down Syndrome

Abnormalities of the Optic Nerve in Down Syndrome and Associations With Visual Acuity

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