Unilateral morning glory optic disc anomaly in a case with Down syndrome

Abstract

BackgroundThis case is unique because it is the first reported case of Down syndrome with morning glory optic disc anomaly in literature.Case presentationA 15-year-old girl with features of Down syndrome presented to the Clinic of Ophthalmology for a regular ophthalmologic examination. Her best corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. The fundus examination revealed findings compatible with unilateral morning glory optic disc anomaly in the right eye. The patient underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings.ConclusionThis case report emphasizes the importance of ophthalmic screening-examinations in Down children to rule out any vision relevant pathology.

Macular structural characteristics in children with Down syndrome

“…Aside from central retinal thickening, our data showed no gross alterations in retinal structural organization. Although we occasionally see case reports of abnormalities of the macula (e.g., bilateral macular coloboma [25]) or optic disc (e.g., unilateral morning glory optic disc anomaly [27]), we observed no such abnormal retinal structures in our sample. Wu et al conducted a study in 47 normal full-term children, similar in age to those in our study, using the same brand of OCT (OptoVue) as was used in our study, and which provided a normal range (fifth percentile was 205 μm and 95th percentile was 289 μm) [33].…”

“…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.…”

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

“…Optic disc pallor was identified in only one child with Down syndrome in the present study, most likely representing a coincidental finding, similar to a few other cases reported previously (19, 20, 23). We did not identify any other sporadically described optic nerve anomalies in our subjects, such as morning glory (53, 54), optic nerve coloboma (55), optic nerve glioma (56), optic nerve atrophy (57) and optic nerve pit (24, 58).…”

Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome

“…[10] However, it should be noted that there have been reports on a few complications that have serious effects on visual function, such as optic atrophy, morning glory syndrome, macular hypoplasia, and macular coloboma. [11–14] Such findings gave rise to the speculation that DS was associated with the congenital abnormality of the optic disc or retina.…”