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Optic disc hypoplasia

Known as: Hypoplastic optic disks, Hypoplastic optic disc, Hypoplasia of the optic disc 
Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

5 relations
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeColoboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine AbnormalitiesOkihiro SyndromePapillorenal syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Incidental bilateral optic nerve hypoplasia
A 19-year-old man was incidentally noted to have a bitemporal heteronymous hemianopia on automated perimetry during his first… 
2013
2013
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
We report a family with ptosis, cataract, iris hypoplasia and gradual corneal opacification occurring in association with a PAX6… 
2013
2013
A long-term follow-up of peripapillary retinoschisis with optic disc hypoplasia
Peripapillary and macular retinoschisis are usually associated with optic disc pits. We report a rare case of peripapillary… 
2006
2006
Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.
Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic… 
2004
2004
Ultrasound evaluation of septo-optic dysplasia in the new born
SummaryA newborn female child with hypothermia, tachypnoea and poor Agpar scores was demonstrated to have absent septum… 
2000
2000
Vitreous hemorrhage from the persistent hyaloid artery.
1986
1986
Corneal changes in familial iris coloboma.
1985
1985
The disc that really isn't (hypoplastic disc syndrome)
1985
1985
The genetic implications of optic disc anomalies.
Congenital anomalies of the optic disc may be inherited, such as drusen, the tumours of Von Hippel-Lindau disease, the phakomata… 
1976
1976
Electroretinographical study of the hypoplasia of the optic nerve.
Out of 22 sporadic cases of hypoplasia of the optic nerve, 16 were bilateral and 6 unilateral. The sex distribution was equal in… 
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