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Please note that we are a research service provider, not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Optic Nerve Hypoplasia (ONH)

Optic Nerve Hypoplasia (ONH) is a congenital anomaly that consists of the underdevelopment of the optic nerves, resulting in varying degrees of vision loss ranging from mild to complete blindness. At Protheragen, we provide a full spectrum of services related to the diagnosis and therapeutic development of ONH.

Overview of Optic Nerve Hypoplasia (ONH)

Optic Nerve Hypoplasia (ONH) refers to a congenital condition of the optic nerve, as its name indicates, ONH underdeveloped optic nerve, which results in significant vision loss. It is one of the most common reasons for blindness and visual impairments in children, and its prevalence in recent years has increased. Other disorders commonly associated with hypopituitarism, such as autism and even global developmental delay, are known to be present with ONH. Both unilateral and bilateral forms exist, but the latter is more frequent and tends to be associated with more severe visual deficits.

Case study of brain magnetic resonance imaging.

Fig. 1 Brain magnetic resonance images of a 3-month-old male who was not tracking with his eye. (Salman M. S., et al., 2024)

Pathogenesis of Optic Nerve Hypoplasia (ONH)

The genesis of optic nerve hypoplasia (ONH) is caused by both genetic and environmental factors. It has been established that several critical developmental genes have undergone Hereditary Mutations which include HESX1, PAX6, SOX2, OTX2, responsible for the formation and differrentiation of the optic nerve as well as other ocular structures. These Hereditary Mutations can hinder normal developmental processes which may result in the Hypoplasia of the optic nerve. Responsible maternal actions such as alcohol misuse, advancement in age, and taking certain medications during pregnancy risks the condition further. Nevertheless, how these elements precisely activate ONH is still being studied.

Diagnostics Development for Optic Nerve Hypoplasia (ONH)

Imaging Diagnostics
For the diagnosis and evaluation of ONH, imaging studies, particularly MRIs, are vital. The accuracy of high-resolution MRI imaging can uncover various structural abnormalities within the optic nerve, brain, and even the pituitary gland. As an example, ONH is associated with the septum pellucidum absence; this condition can be detected with MRI imaging. Moreover, the MRI can identify other abnormalities associated with ONH, like hypoplasia of the corpus callosum and pituitary gland insufficiency. These anomalies are of extreme importance for a thorough understanding of the spectrum of ONH-related complications.

Genetic Diagnostics
The use of genetic testing in the diagnostics of optic nerve hypoplasia (ONH) is indispensable since it helps discover specific mutations associated with the condition. These could be due to precise sequencing of the known optic nerve hypoplasia (ONH) associated genes or even whole-exome sequencing. For instance, HESX1 mutations have been associated with septo-optic dysplasia, which also has elements of ONH and pituitary hypoplasia and midline brain structural abnormalities. Similarly, ONH is seen in a condition caused due to PAX6 mutations, which has a variety of eye abnormalities linked to it.

Therapeutics Development for Optic Nerve Hypoplasia (ONH)

Hormonal replacement therapy is the principal method of therapeutics for children with ONH associated hypopituitarism. For cases suffering from the growth hormone deficiency which is a very common feature of ONH, therapeutic with recombinant human growth hormone (rhGH) therapy is an effective option. Likewise, the therapy of choice in children suffering from central hypothyroidism is thyroid hormone replacement therapy. These measures strive to enhance the achievement of defined growth milestones thereby increasing life satisfaction.

Our Services

Protheragen offers comprehensive services for the development of diagnostics and therapeutics for Optic Nerve Hypoplasia (ONH). Our expertise in genetic testing and imaging studies allows for the identification and characterization of ONH-related mutations and structural abnormalities. Moreover, we are actively engaged in the development of new therapeutic strategies for ONH. Our research efforts focus on identifying the genetic and molecular mechanisms underlying the development of ONH and leveraging this knowledge to develop targeted therapies.

Diagnostics Development

Therapeutic Development

Disease Models

HESX1 Knockout Mouse Models
PAX6 Mutant Mouse Models
PAX6 Mutant Rat Models
SOX2 Hypomorphic/Null Compound Heterozygous Mouse Models
B3GALNT2 Knockdown Zebrafish Models

Protheragen offers a range of services, including in vitro and in vivo models, to study the pathogenesis and potential therapeutics for ONH. If you are interested in our services, please feel free to contact us.

References

Salman, Michael S., et al. "Risk factors in children with optic nerve hypoplasia and septo-optic dysplasia." Developmental Medicine & Child Neurology 66.1 (2024): 106-116.
Garcia-Filion, Pamela, and Mark Borchert. "Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations." Current treatment options in neurology 15 (2013): 78-89.
Chen, Chun-An, et al. "Genetic causes of optic nerve hypoplasia." Journal of Medical Genetics 54.7 (2017): 441-449.