Optic nerve head cupping in a preterm infant revealing congenital hypothyroidism
Indian Journal of Ophthalmology. Case Reports, 2022 We report a case of a male preterm infant with gestational age of 35 weeks evaluated for retinopathy of prematurity. On examination, the infant showed bilateral advanced optic nerve cupping head with cup disc ratio of 0.9. With a suspicion of optic nerve
Abhinav Dhami +5 more
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Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC-derived models of optic nerve hypoplasia. [PDF]
Ophthalmic Genet, 2023 Background Optic nerve hypoplasia (ONH), the leading congenital cause of permanent blindness, is characterized by a retinal ganglion cell (RGC) deficit at birth.
Aparicio JG +5 more
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Superior segmental optic nerve hypoplasia misdiagnosed as normal tension glaucoma [PDF]
Oman Journal of OphthalmologyTarannum Mansoori
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Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia. [PDF]
Invest Ophthalmol Vis Sci, 2019 Purpose Heterozygous mutations in the essential X-linked gene CASK associate with optic nerve hypoplasia (ONH) and other retinal disorders in girls.
Kerr A +7 more
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Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment. [PDF]
PLoS ONE, 2013 OBJECTIVES: To assess the prevalence of behavioral problems in children with isolated optic nerve hypoplasia, mild to moderate or no visual impairment, and no developmental delay.
Emma A Webb +7 more
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Optic Nerve Hypoplasia in Infancy [PDF]
Journal of the Royal Society of Medicine, 1986 Certain features of optic nerve hypoplasia (ONH), its systemic associations and investigation are exclusive to infancy. These include the facility to use cranial ultrasound, difficulties in assessing ocular features and visual function, and neonatal hypoglycaemia and jaundice. Six infants with ONH are presented; cerebral abnormalities were demonstrated
A R, Fielder +3 more
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Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.
J Clin Endocrinol Metab, 2020 Context Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome ...
Tahoun M +14 more
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Российский офтальмологический журнал, 2022 Purpose: to study the nature of changes in morphological parameters of the children’s optic disc and peripapillary retina in cases of congenital pathology.Material and methods.
T. V. Sudovskaya, L. V. Kogoleva
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SUNCT and optic nerve hypoplasia [PDF]
The Journal of Headache and Pain, 2009 SUNCT has been reported in association with abnormalities of the brainstem and pituitary region. We present a patient with a history of left optic nerve hypoplasia, mild hypothalamic-pituitary dysfunction, and SUNCT starting in adolescence. SUNCT with an early age of onset may be associated with congenital abnormality of the hypothalamic-pituitary axis.
Theeler, Brett J., Joseph, Kevin R.
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Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation. [PDF]
Case Rep Ophthalmol, 2019 We report the case of a girl with a novel mutation of the COL4A gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve.
Grego L +5 more
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