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]

• Feeding Difficulties

  Family screening for a possible mutation is important as mutations tend to be hereditary Anophthalmia/microphthalmia, brain malformations, pituitary abnormalities; short stature, intellectual disabilities, feeding difficulties 14 VAX1 Transcription regulation [eyewiki.aao.org]

• Overeating

  […] first major study of visual impairment in New Zealand children, and it demonstrates that ONH is an important cause of severe visual disability; with an over-representation of Maori children and younger maternal age. [ncbi.nlm.nih.gov]

  Over 80% of people with bilateral ONH also have hypopituitarism or hypothalamic dysfunction. [iowa-braille.k12.ia.us]

  Does optic nerve hypoplasia get worse over time? In general, ONH is a stable and nonprogressive condition which does not deteriorate. Vision may improve slightly and nystagmus may decrease over time. [aapos.org]

• Delayed Dentition

  Other indicators of GH deficiency may include hypoglycemic events (including seizures), prolonged jaundice, micropenis in boys, and delayed dentition. [en.wikipedia.org]

• Cardiomegaly

  One case had cardiomegaly and macroglossy. One had rectal agenesia, and one patient had cleft palate. Three parents were second degree relatives. DISCUSSION Optic nerve hypoplasia, is the most common congenital anomaly of the optic disc. [ncbi.nlm.nih.gov]

• Impulsivity

  When light enters the retina, the optic nerve sends electrical impulses to the brain where visual images are interpreted. When the optic nerve is deficient or absent, proper communication with the brain is impossible. [glassescrafter.com]

  The child with associated central nervous system problems may be easily distracted, quickly frustrated and act in a disorganized or an impulsive way. [tsbvi.edu]

  The optic nerves transmit impulses from the nerve-rich membranes lining the retina of the eye to the brain. [rarediseases.org]

• Distractibility

  A child who is easily distracted, frustrated, disorganized, and impulsive may be helped by predictable physical environments, dependable daily routines, and limited distractions. [tsbvi.edu]

• 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]

• Behavior Problem

  The checklist includes 8 domains of behavior: Social Withdrawal, Somatic Complaints, Anxiety/Depression, Social Problems, Thought Problems, Attention Problems, Delinquent Behavior, and Aggressive Behavior. [journals.plos.org]

  problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment. ( 23554967 ) Webb EA...Dattani MT 2013 [malacards.org]

  This disturbance could result in behavioral problems and disruption of family life. [3] [5] Development [ edit ] More than 70% of children with ONH experience developmental delay, ranging from isolated focal defects to delay in all areas of development [en.wikipedia.org]

• 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]

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

Adapted from: http://www.focusfamilies.org/focus/ONHbooklet/page5.html Treatment: There is no current curative treatment for optic nerve hypoplasia. [pedclerk.bsd.uchicago.edu]

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]

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]

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 probable etiology is some unknown insult involving several ocular embryonic structures and occurring during the 11-mm to 20-mm stage of development. [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]

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

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]

[…] 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]

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]

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]

"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]

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]

Early detection through regular eye examination and prompt treatment is essential to prevent vision loss. [afb.org]