CASE REPORT: A 51-year-old woman presented with a previous diagnosis of idiopathic optic atrophy superiorly in the left eye. [ncbi.nlm.nih.gov]

• Atrial Septal Defect

  Abstract To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth [ncbi.nlm.nih.gov]

• Overeating

  PURPOSE: To determine whether the ratio of optic disk diameter to disk-to-macula distance (DD/DM) in children with optic nerve hypoplasia (ONH) changes over time. [ncbi.nlm.nih.gov]

• Fasciculation of the Tongue

  Other associated signs were rhinolalia, hypotrophy and fasciculations of the tongue and cardiomyopathy. We differentiate the condition from a number of hereditary ataxias and paraplegias. [ncbi.nlm.nih.gov]

• Cutaneous Manifestation

  It is the cutaneous manifestation of another phakomatosis, characterized by neurologic, ophthalmic, cardiovascular, skeletal, and urogenital involvement. [ncbi.nlm.nih.gov]

• Broad Nasal Bridge

  Facial manifestations included broad nasal bridge, hypertelorism, and downward-slanting of palpebral fissures. The patient had associated omphalocele, sensorineural hearing loss, and developmental delay. [ncbi.nlm.nih.gov]

• Myoclonus

  We retrospectively reviewed 80 patients with nonsyndromic mitochondrial cytopathies (ie, not Kearns-Sayre syndrome, myoclonus epilepsy associated with ragged red fibers [MERRF], mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes [ncbi.nlm.nih.gov]

These abnormalities suggest pituitary hormone deficiency, requiring further endocrinologic workup. [aao.org]

Endocrine workups include: fasting morning cortisol and glucose, TSH, free4, growth hormone surrogates (IGF-1, IGFBP-3), LH, SFH, and testosterone (if 6mo age). [eyewiki.aao.org]

Is there any treatment for optic nerve hypoplasia? There is no medical or surgical treatment for ONH. However, occlusion of the better seeing eye may improve vision in the other eye. [aapos.org]

Improvement in visual acuity was noted in study participants regardless of treatment status. CONCLUSIONS: On the basis of this small sample, there is no evidence that stem cell therapy improves visual acuity in children with ONH. [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The treatments, which are paid for entirely out of pocket by the parents, can cost 50,000 or more. [ophthalmologytimes.com]

Cell Therapy is an old treatment modality which involves implantation of living cells for treatment of diseases. Extensive research on how live cell therapy can treat severe eye conditions is still ongoing. [villa-medica.com]

The later negativity, N95, was the best indicator of visual prognosis and was most useful to identify those with good visual outcomes ( 0.4 LogMAR). [ncbi.nlm.nih.gov]

Visual prognosis guarded but children have varying degrees of visual impairment. Low vision assistance offers a good functional prognosis assuming no neuro-developmental issues. The visual prognosis is stable condition lifelong. [cancertherapyadvisor.com]

Recognition of this entity is important for prognosis and for avoidance of unnecessary diagnostic studies. Related Topics Related Articles Loading Related Articles [insights.ovid.com]

Diagnosis and Prognosis: Only an ophthalmologist can make this diagnosis but an MRI and an endocrinological evaluation should be obtained. Lifespan is normal. Low vision aids and mobility training can be helpful to patients. [disorders.eyes.arizona.edu]

The occurrence of these anomalies not previously reported together in a patient, supports the hypothesis of a disturbance in embryogenesis during the second gestational month as the etiology of the retraction syndrome. [ncbi.nlm.nih.gov]

A review of the past 50 years of epidemiologic research was conducted to examine the prenatal features linked with ONH and provide direction for future research. [ncbi.nlm.nih.gov]

Epidemiology [ edit ] Optic nerve hypoplasia (ONH) is a congenital condition in which the optic nerve is underdeveloped (small). [en.wikipedia.org]

Generalizability of epidemiological findings and public health decisions: an illustration from the Rochester Epidemiology Project. Mayo Clin Proc. 2012;87(2):151-160. PubMed Google Scholar Crossref 10. Blohmé J, Bengtsson-Stigmar E, Tornqvist K. [jamanetwork.com]

Epidemiology: ONH is the third most prevalent cause of visual impairment in kids under three years of age. Most common congenital optic disc abnormality. [pedclerk.bsd.uchicago.edu]

This suggests that either there is some other pathophysiological process underlying the reduced structural integrity of their optic radiations, or that even small reductions in visual stimulation can affect the development of the optic radiations. [journals.plos.org]

[…] flower ( figure 6 ). 3 Upon physical examination, affected individuals frequently exhibit a large, excavated disc with glial tissue that is centrally surrounded by peripapillary pigment changes (which may include the macula). 3 There is debate on the pathophysiology [reviewofoptometry.com]

Vision will not deteriorate; however, you may see an improvement in vision and reduced nystagmus as a result of maturation process of the brain If one eye is affected more, patching of the stronger eye is usually recommended to prevent vision loss in [day2dayparenting.com]

N/A How can optic nerve hypoplasia be prevented? Avoidance of excessive alcohol use during pregnancy. What is the evidence? Ahmad, T, Garcia-Filion, P, Borchet, M. [cancertherapyadvisor.com]

Because of Abby’s sleep deprivation it prevents the family from going to some activities… or even leaving the house. Abby has a small vocabulary. Her vocab is “mama”, “dada”, “daddy”, “baba” and “sit.” [wonderbaby.org]

"We might be able to deliver CASK back into cells to prevent axonal loss, or maybe rescue what was already lost." This research was funded by a National Institutes of Health grant awarded to Mukherjee. [sciencedaily.com]

Acknowledgments This research was supported in part by the Prevent Blindness America Foundation, the One Small Voice Foundation, and grant No. [karger.com]