Bilateral Optic Nerve Hypoplasia

An autosomal dominant congenital anomaly of the OPTIC DISK. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the SEPTUM PELLUCIDUM, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the PITUITARY GLAND. Mutations in the PAX6 gene have been identified. OMIM: 165550

Also Known As:

Networked: 8 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Precocious Puberty
2.	Hypopituitarism (Sheehan's Syndrome)
3.	Retinal Dysplasia
4.	Vision Disorders (Hemeralopia)
5.	Microphthalmos

Experts

1.	Dahl, Sara: 1 article (01/2019)
2.	Kristoffersen Wiberg, Maria: 1 article (01/2019)
3.	Sävendahl, Lars: 1 article (01/2019)
4.	Teär Fahnehjelm, Kristina: 1 article (01/2019)
5.	Wickström, Ronny: 1 article (01/2019)
6.	Hunter, David G: 1 article (01/2018)
7.	Indaram, Maanasa: 1 article (01/2018)
8.	Koo, Euna: 1 article (01/2018)
9.	Peiris, Timothy J: 1 article (01/2018)
10.	Soul, Janet S: 1 article (01/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Bilateral Optic Nerve Hypoplasia:

1.	Hormones (Hormone)IBA 01/01/2019 - "This study examined the prevalence of neurological impairment and pituitary hormone deficiency (PHD) in patients with unilateral and bilateral optic nerve hypoplasia (ONH). " 01/01/2019 - "High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia." 11/01/1996 - "All children had severe bilateral optic nerve hypoplasia and anterior pituitary hormone deficiencies. " 02/01/2002 - "At the age of 2 months ophthalmological examination revealed bilateral optic nerve hypoplasia; at the age of 9 months endocrinological investigations showed GH and ACTH deficiency and substitutive hormone therapy was started. "
2.	Retinaldehyde (Retinal)IBA 01/01/2018 - "In addition, the patient had poor visual acuity, nystagmus, optic nerve hypoplasia, bilateral retinal dysplasia and retinal dragging with a large vertical angle kappa, and an avascular peripheral retina. " 03/01/2011 - "Children with INS were classified as having idiopathic INS (n = 84) or INS with an associated sensory deficit: INS and albinism (n = 71), bilateral optic nerve hypoplasia (ONH; n = 23), or congenital retinal disorder (n = 36). " 01/01/2016 - "Other findings include feeding difficulties (3/6), cardiac defects (5/6), short stature (5/6), joint laxity and/or dislocation (5/6), vertebral anomalies (3/6), bilateral microphthalmia and irido-retinal coloboma (1/6), bilateral optic nerve hypoplasia (2/6), renal anomalies (2/6) and branchial arch defects (2/6). "
3.	Growth Hormone (Somatotropin)IBA 05/01/1996 - "We describe a 5-month-old boy with bilateral optic nerve hypoplasia associated with visual impairment, growth hormone deficiency and an arachnoid cyst in the right temporal lobe on MRI. "
4.	Adrenocorticotropic Hormone (ACTH)FDA Link 02/01/2002 - "At the age of 2 months ophthalmological examination revealed bilateral optic nerve hypoplasia; at the age of 9 months endocrinological investigations showed GH and ACTH deficiency and substitutive hormone therapy was started. "

Therapies and Procedures

1.

Therapeutics 01/01/2014 - "We report this case (i) to emphasize the need to investigate hypopituitarism in cases with bilateral optic nerve hypoplasia and (ii) to draw attention to the fact that during the follow-up of SOD cases receiving GH therapy, inappropriate acceleration of growth velocity and rapid improvement in bone age may be predictive of central precocious puberty development. " 02/01/2002 - "At the age of 2 months ophthalmological examination revealed bilateral optic nerve hypoplasia; at the age of 9 months endocrinological investigations showed GH and ACTH deficiency and substitutive hormone therapy was started. "