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- Ocular Albinism (OA)
Ocular Albinism (OA) is a rare form of X-linked genetic disorder that occurs due to a reduction or lack of melanin pigmentation in the eye structures like the iris, fundus, and retina. At Protheragen, we provide a complete range of diagnostic services and therapeutics development for OA.
Like some other disorders, ocular albinism (OA) is associated with a lack of pigmentation in the eyes and poor eyesight. Unlike OCA (ocular cutaneous albinism), where skin is involved, OA is predominantly an eye problem with skin and hair having normal pigmentation. The syndrome arises due to changes in the GPR143 gene, which codes for a protein associated with the transport and maturation of melanosomes in melanocytes and retinal pigment epithelial cells. The disease predominates in males and is suspected to occur in 1 of 60,000 people. OA has manifestations of reduced eyesight, intracorneal oscillating movements of the eyes, an underdeveloped fovea, hyperdevelopment of the iris, and misaligned optic nerves.
Fig. 1 Schematic of normal and albino visual pathways. (Neveu M. M., et al., 2022)
Genetic Testing
Genetic evaluation is pivotal in the OA diagnosis process. Molecular diagnosis is possible through detection of mutations within the GPR143 gene. Specialized methods like Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES) provide specific mutation identification, which deepen understanding regarding the disorder's severity and progression.
Visual Electrophysiology
Visual evoked potentials (VEP) become pertinent in the diagnosis of OA, particularly in patients with mild or subclinical OA phenotypes. VEP testing reveals bilateral contralateral predominance which suggests there is abnormal decussation of the optic nerve fibers. This diagnostic modality is highly useful among young children or cases with vague clinical signs.
Imaging Techniques
OCT is employed to evaluate the foveal maturation and retinal anatomy in patients with OA. Imaging by OCT can expose foveal hypoplasia and other retinal changes which are helpful in the monitoring and diagnosing of the disorder. Research has stated that OCT is able to observe basic foveal development in certain OA cases and this is associated with improved visual perception.
| Therapeutics | Target | Description | Stage |
| AAV-Mediated Gene Therapy | GPR143 Gene | Employs adeno-associated virus (AAV) vectors to introduce functional copies of the GPR143 gene into melanocytes and retinal pigment epithelium (RPE) cells. This strategy seeks to remediate the defective functions of melanosomes, attain proper melanin biosynthesis, retinal morphology, and enhance vision. | Preclinical |
| CRISPR/Cas9 Genome Editing | GPR143 Gene | Applies the CRISPR/Cas9 system to directly rectify mutations in the GPR143 gene. This method is based on making double-strand breaks in the DNA at particular sites, which can then be fixed through either homology-directed repair (HDR) or non-homologous end joining (NHEJ), possibly restoring the typical function of the gene. | Preclinical |
| Pharmacological Agents | Melanogenesis Pathway | Research is ongoing to identify drugs that can enhance melanin production or improve retinal function in OA patients. These agents may target specific enzymes or pathways involved in melanin synthesis. | Preclinical |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Protheragen provides complete services related to the creation of diagnostics and therapeutics pertaining to ocular albinism (OA). Having specialized in genetic testing, visual electrophysiology, as well as advanced imaging methods, we are able to provide comprehensive diagnostic services. Our preclinical research services include advanced therapeutic approaches to OA that harness the power of high-technology gene therapy, genome editing, and other techniques.
The preclinical research services specific to OA offered by Protheragen strive to enhance the development workflows of novel therapeutics. Our advanced facilities, coupled with our skilled scientific personnel, form a solid foundation for performing comprehensive preclinical research. If you are interested in our services, please feel free to contact us.
References
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