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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
A heterogeneous group of disorders with midline brain abnormalities: Hypoplasia or absence of the septum pellucidum and corpus callosum.Optic nerve hypoplasia.Pituitary/hypothalamic dysfunction.
Prenatal Cocaine Exposure and the Eye
Published in Richard J. Konkol, George D. Olsen, Prenatal Cocaine Exposure, 2020
William V. Good, Beatrice Latal Hajnal, Donna M. Ferriero
Optic nerve hypoplasia, atrophy, and coloboma have all been reported in children exposed to cocaine in utero.2,9 (Figure 8.1). Optic nerve hypoplasia is a condition in which the optic nerves fail to develop a normal number of axons. The insult that causes this problem can occur early in gestation when axonal development, modeling, and remodeling are known to occur. The mechanisms involved in the development of optic nerve hypoplasia are unknown. Indeed, in the vast majority of cases of optic nerve hypoplasia, no etiology is discovered. Nevertheless, there is some evidence that in utero vascular damage affecting the development of midline central nervous system structures could play a role.18
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome
Published in Ophthalmic Genetics, 2021
Daphna Prat, William R. Katowitz, Alanna Strong, James A. Katowitz
There are very little data on the ocular manifestations of KdVS, although blepharophimosis, epicanthus, and ptosis are known associations (1,2,4). In one series of 45 cases, ptosis was observed in 32% of the patients, epicanthal folds in 52%, hypermetropia in 40% and strabismus in 40% of cases, central visual impairment in 4 patients, and optic nerve hypoplasia in 1 patient (1). Wright et al. (5) reported a case of optic nerve hypoplasia and early cataract. Additional case reports noted cataract (4,6) and “iris-choroid coloboma” (7). Our series is the first to provide an overall ophthalmological view of this syndrome, and the first to discuss ophthalmic surgical intervention. Our series demonstrates that surgical intervention was performed in 67% (4/6) of these patients, although further analysis is limited by the small number of cases.
Non-Arteritic Anterior Ischaemic Optic Neuropathy Associated with Optic Nerve Hypoplasia and Elevated Intraocular Pressure
Published in Neuro-Ophthalmology, 2020
Nithya Rathinam, Nirupama Kasturi, Amit Kumar Deb, Subashini Kaliaperumal
Optic nerve hypoplasia is characterised by a small optic nerve head and a significantly reduced number of axons occurring due to irreversible axonal damage to the visual pathway at some time before the full development of the eye. It may be unilateral but often occurs bilaterally (in 65% to 75% of cases). An ophthalmoscopically detectable sign of optic nerve head hypoplasia is the “double-ring sign”, in which a peripapillary ring surrounds the small optic nerve head. Further, optic nerve hypoplasia is confirmed if the distance from the disc to the macula is equal to or greater than 3 disc diameters.3 Visual acuity depends on the extent of axonal loss and visual field defects can range from normal to localised defects in the nasal and inferior quadrants or diffuse constriction. The spectrum of optic nerve hypoplasia appears to be very wide also with respect to the extent of damage.4
FEVR phenotype associated with septo-optic dysplasia
Published in Ophthalmic Genetics, 2019
David L. Zhang, Michael P. Blair, Janice L. Zeid, Syeda S.T. Basith, Michael J. Shapiro
This hypothesis is supported by a variety of optic nerve hypoplasia cases associated with FEVR. Morning glory syndrome (MGS) is another condition where abnormalities in vascular development are associated with optic nerve anomalies. She et al. analyzed 86 eyes of 74 patients with MGS, noting a high prevalence of peripheral retinal nonperfusion in these cases (19). Rojanaporn et al. suggested that maldevelopment of blood vessels at the optic disc during development also occurs in the retinal periphery, resulting in nonperfusion (20). The high prevalence of this comorbidity may point to a new locus where FEVR is not the primary outcome. However, none of the cases described above have been accompanied by genetic testing results, and thus have not directly eliminated a coincidental FEVR mutation with an optic nerve mutation.