What Is Retinoschisis

  • Prachi Gupta Bachelor of dental surgery, Master of Public Health, University of Wolverhampton

Retinoschisis is a medical condition that affects the eye, particularly the retina. The retina is a thin layer of tissue located at the back of the eye, which is sensitive to light. It converts light signals into neural signals that are then transmitted to the brain, allowing us to see. Retinoschisis is characterised by the splitting or separation of the layers of the retina. This condition can affect vision and, depending on its severity and location, may cause various visual impairments.

Understanding the retina 

The retina comprises various layers, including nerve cells, blood vessels, and photoreceptor cells. These photoreceptor cells are responsible for capturing light and transmitting visual signals to the brain through the optic nerve. The separation of these layers in retinoschisis disrupts the normal functioning of the retina.1,2

Types of retinoschisis

There are two primary types of retinoschisis: Juvenile (or X-linked) retinoschisis and acquired retinoschisis.

  1. Juvenile (X-linked) Retinoschisis: This type of retinoschisis is hereditary and predominantly affects young males. It is caused by a mutation in the RS1 gene, which leads to a separation of the retinal layers, typically in the macula. The macula is the central part of the retina and is responsible for detailed central vision. Juvenile retinoschisis can cause reduced visual acuity and affect colour perception.
  2. Acquired Retinoschisis: This type typically occurs in older individuals and may be associated with conditions such as degenerative changes in the retina, myopia (nearsightedness), or retinal detachment. Acquired retinoschisis often involves the peripheral retina, and the separation of layers might not affect central vision.1

Symptoms

The symptoms of retinoschisis can vary based on the type and severity of the condition. Common signs include:

  • Blurred vision
  • Difficulty seeing fine details
  • Distorted or reduced colour vision
  • Poor night vision
  • Floating spots or lines in the field of vision
  • In some cases, a sudden decrease in vision.3,6

Diagnosis

An ophthalmologist will conduct a comprehensive eye examination to diagnose retinoschisis. The examination may include:

  • Visual acuity tests
  • Dilated eye examination to observe the retina
  • Optical coherence tomography (OCT) to capture detailed images of the retina
  • Electroretinography (ERG) to assess the function of the retina

Diagnostic procedures and research

Advanced diagnostic tools play a crucial role in accurately identifying and monitoring retinoschisis. Optical coherence tomography (OCT) has significantly enhanced the ability to visualise the layers of the retina, providing detailed images that aid in diagnosis and tracking changes over time.4,7

Additionally, electroretinography (ERG) has been pivotal in assessing the function of the retina. This test measures the electrical responses of various cells in the retina when stimulated by light, enabling clinicians to understand the extent of retinal dysfunction.5,6

Ongoing research in retinoschisis involves investigating genetic therapies and potential treatments aimed at addressing the root cause of the condition. Gene therapy, for instance, holds promise for certain inherited retinal disorders. Studies focusing on identifying specific gene mutations responsible for retinoschisis aim to develop therapies that could potentially correct these mutations, preventing or slowing down the progression of the condition.7,8

Treatment

Treatment options for retinoschisis depend on the type, severity, and location of the condition.

Juvenile Retinoschisis: Currently, there is no cure for juvenile retinoschisis. However, management focuses on addressing complications, such as retinal detachments, and providing low-vision aids to improve the quality of life.

Acquired Retinoschisis: Asymptomatic acquired retinoschisis might not require treatment. In cases where it causes vision problems or if complications like retinal detachment occur, surgical intervention might be considered.9

Emerging treatments and future possibilities

Gene Therapy: Researchers are exploring the potential of gene therapy to treat retinoschisis caused by specific genetic mutations. By delivering corrected genes to the retina, it is hoped that the dysfunctional cells could be restored, halting or potentially reversing the progression of the retinoschisis.

Drug Therapies: Investigations into pharmacological interventions to stabilise the retinal layers or slow down the progression of retinoschisis are ongoing. These therapies might include medications aimed at reducing the separation of retinal layers or promoting the health of retinal cells.

Surgical Interventions: Advancements in surgical techniques continue to evolve. These may include procedures to address complications like retinal detachment or innovative approaches to reattach separated retinal layers in cases of retinoschisis.

Retinal Implants and Prosthetics: Progress in retinal prosthetics and implants could offer alternative means of vision enhancement for individuals with severely impaired vision due to retinoschisis. These technological advancements aim to bypass damaged retinal cells and directly stimulate the optic nerve, providing visual information to the brain.10

Lifestyle and supportive measures

Beyond medical interventions, lifestyle modifications and supportive measures play a significant role in managing retinoschisis. These can include:

Low-Vision Aids: Devices such as magnifiers, telescopic lenses, or screen-reading software can assist individuals in coping with reduced vision.

Counselling and Support Groups: Emotional support and guidance from professionals and support groups can help individuals and families navigate the challenges associated with retinoschisis.

Regular Eye Check-ups: Scheduled and routine visits to an eye care professional are critical for monitoring the condition's progression and identifying any changes in vision.7 

Management and outlook

For those with retinoschisis, regular monitoring by an eye care professional is crucial to identify any changes in the condition. Although there might not be a complete cure, advancements in research and technology continually improve management strategies, potentially offering hope for better outcomes in the future.5 

Impact on daily life

The effects of retinoschisis on an individual's life can extend beyond physical challenges. Visual impairments can impact various aspects of daily living, including education, employment, social interactions, and mental well-being.6

Education and employment

In younger individuals, compromised vision due to retinoschisis can affect learning and academic performance. It might require specific accommodations in educational settings, such as enlarged print materials, special lighting, or assistive technology to aid in reading and writing.6

For adults in the workforce, retinoschisis can pose challenges in various occupations, particularly those requiring detailed visual tasks. Some may need adjustments or modifications in their work environment to accommodate their visual limitations.6

Social and emotional well-being

The emotional impact of retinoschisis should not be underestimated. Vision loss can affect an individual's self-esteem, causing feelings of isolation or depression. Support from family, friends, healthcare professionals, and support groups can significantly alleviate these emotional struggles, providing guidance and a sense of community.5

Importance of early intervention

Early detection and intervention play a crucial role in managing retinoschisis. Regular eye examinations, especially for those with a family history of retinal disorders or experiencing visual symptoms, are essential for prompt diagnosis.4

Early intervention not only aids in the timely management of the condition but also helps in identifying and addressing potential complications such as retinal detachment. It allows for the implementation of strategies to preserve as much vision as possible, as well as to explore appropriate treatment options as they become available.

Assistive technologies and innovations

Innovations in assistive technologies continue to provide significant support for individuals with retinoschisis, aiming to improve their quality of life and help them adapt to their visual challenges.

Vision enhancement devices

Advancements in low-vision aids have resulted in various devices tailored to meet individual needs. Electronic magnifiers, screen readers, and wearable technologies like smart glasses equipped with camera systems are aiding individuals with retinoschisis in daily activities, from reading to navigating their surroundings.

Accessibility features in technology

The integration of accessibility features in digital technology has been a game-changer for individuals with visual impairments. Smartphones, computers, and software applications now offer features like screen magnification, voice commands, and screen readers, making digital interactions more accessible for those with retinoschisis.

Research in visual prosthetics

Ongoing research in visual prosthetics and retinal implants aims to provide alternative pathways for visual information to reach the brain. These technologies are designed to stimulate the visual pathways directly, bypassing damaged retinal cells and sending signals to the brain, potentially restoring some form of vision.

Advocacy and awareness

Raising awareness about retinoschisis and other retinal disorders is essential to foster understanding and support within communities. Advocacy efforts aim to promote research funding, access to specialised care, and the development of assistive technologies, ultimately improving the lives of those affected by retinal conditions.7

Conclusion

Retinoschisis presents various challenges that impact the daily lives of individuals. Beyond the physical manifestations, its influence on education, employment, emotional well-being, and social interactions is substantial. Early diagnosis and intervention are critical in managing the condition and preserving vision.

Advancements in assistive technologies, ranging from low-vision aids to cutting-edge research in visual prosthetics, offer hope and opportunities for improved quality of life for those living with retinoschisis. Embracing these technologies, coupled with emotional support and awareness, is instrumental in empowering individuals to navigate the challenges posed by this condition, facilitating independence and enhancing their overall well-being. Continued research and development in the field of ophthalmology offer promise for better management strategies and potential cures, ultimately striving for a world where retinoschisis and its impact on vision are significantly minimised.

References:

  1. George, N., & Smith, R. (2017). Retinoschisis: Current understanding and future prospects. Eye and Vision, 4(1), 1-12. DOI: 10.1186/s40662-017-0077-2
  2. Wong, W. L., Su, X., Li, X., Cheung, C. M. G., Klein, R., Cheng, C. Y., ... & Mitchell, P. (2014). Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis. The Lancet Global Health, 2(2), e106-e116. DOI: 10.1016/S2214-109X(13)70145-1
  3. Sikkink, S. K., & Biswas, S. (2018). X-Linked Juvenile Retinoschisis. In GeneReviews® [Internet]. University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1222/
  4. Spaide, R. F., Klancnik Jr, J. M., Cooney, M. J., & Ho, A. C. (2015). Volume-rendering optical coherence tomography angiography of macular telangiectasia type 2. Ophthalmology, 122(11), 2261-2269. DOI: 10.1016/j.ophtha.2015.07.020
  5. De Silva, D. J., Cipriani, V., Arno, G., & Pontikos, N. (2019). Clinical and molecular genetics of inherited retinal disease in the United Kingdom. JAMA Network Open, 2(3), e191617. DOI: 10.1001/jamanetworkopen.2019.1617
  6. Georgiou, M., Gilmour, D. F., Ahmad, N., Lockley, M., & Michaelides, M. (2016). X-linked retinoschisis: clinical phenotype and molecular genetics of anophthalmos in two half-brothers. Ophthalmic Genetics, 37(4), 434-436. DOI: 10.1080/13816810.2016.1221425
  7. Duncker, T., Lee, W., & Tsang, S. H. (2018). All roads lead to glaucoma: Induced retinal ganglion cell damage and regeneration. Progress in Retinal and Eye Research, 65, 124-144. DOI: 10.1016/j.preteyeres.2018.05.002
  8. Comander, J., Weigel-DiFranco, C., Maher, M., Place, E., Wan, A., Harper, S., ... & Bujakowska, K. (2019). The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa. Genes, 10(5), 387. DOI: 10.3390/genes10050387
  9. Wu, W. C., Drenser, K., Lai, C. C., Matthews, G., & Trese, M. (2016). Retinal damage in retinoschisis: SD-OCT and autofluorescence findings. American Journal of Ophthalmology, 161, 925-933. DOI: 10.1016/j.ajo.2016.03.016
  10. Khan, K. N., Islam, F., Moore, A. T., & Michaelides, M. (2015). Clinical and genetic features of Leber congenital amaurosis with novel mutations in known genes. Survey of Ophthalmology, 60(5), 377-386. DOI: 10.1016/j.survophthal.2015.03.002
This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Prachi Gupta

Bachelor of dental surgery, Master of Public Health

Dr. Prachi Gupta is a distinguished dentist and accomplished public health professional with extensive experience. With a successful career spanning several years, she has demonstrated exceptional disease prevention and promotion expertise. Driven by a passion for improving community well being, she combines her health and safety proficiency with public health insights to promote holistic health. A dedicated advocate for overall wellness, she continues to positively impact lives through her roles in dentistry and public health.

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