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Rare Disease in Ophthalmology

The field Ophthalmology has a substantial number of rare disease representation. Which of these diseases can fall under the definition of of a rare disease, and what can the field of research do to find cures? Below are examples of rare ophthalmic diseases and what the industry has done to treat them. 

Retinoblastoma

Image result for Retinoblastoma

Retinoblastoma is a rare type of cancer that unfortunately manifests in children patients under the age of 5. This form of ocular cancer is known to affect 3% of all child malignancies.2 The cancer coalesces into a tumor on the retina as pictured above. Another unfortunate aspect of this disease alludes to the fact that this disease is in some cases hereditary.3 With early diagnosis and treatment, retinoblastoma is, thankfully, treatable. However, the implication of the indication can be dire if left untreated, with fatal consequences. Untreated, retinoblastoma will grow and produce seeding in the eye, which leads to necrosis and optic nerve invasion, invasion of the orbit, and invade the central nervous system.7

Advocacy and Research

There are studies venturing into the possibility of using gene therapy in the form of suicide gene therapy to isolate and combat retinoblastoma. There is also research into chemotherapy to address the issue. The myriad of cancer advocacy groups in existence such as the American Cancer Society or the National Cancer Institute address retinoblastoma. In particular, groups such as The Childhood Eye Care Trust in the UK offer a more in depth advocacy for retinoblastoma.9 They can be found at https://chect.org.uk/

Idiopathic Intracranial Hypertension 

Image result for IIH

Intracranial hypertension is of high pressure in spaces around the brain and spinal cord. The fluid filling the spaces is known as cerebrospianl fluid, or CSF. CSF cushions the brain from injury and carries away waste but when it fills those vacant spaces, this puts pressure on the brain and ocular nerves.4 Early indicators of intracranial hypertension is a spinal CSF rating of greater than 250 mmH2O.5 Symptoms may include headaches and visual loss, including blind spots, poor peripheral vision, double vision, and short but temporary episodes of blindness. 4

Advocacy and Research

The Intracranial Hypertension Research Foundation supports the study and patient advocacy of this rare disease. You can find them at http://ihrfoundation.org/. The IHR Foundation with collaboration from the Casey Eye Institute of the Oregon Health Sciences University maintain an Intracranial Hypertension Registry in which patients may voluntarily register for the studies they participate. 6

Usher Syndrome

Photograph of the retina of a patient with Usher syndrome (left) compared to a normal retina (right).

Usher Syndrome is one of the more common ophthalmic rare disease indications that concurrently affect the hearing and vision of the patient. Usher syndrome, unlike retinoblastoma, is entirely hereditary. This disease, like a number of other rare indications, is predominantly found in young children. Usher syndrome affects approximately three to ten in 100,000 people worldwide. Of the estimated 16,000 deaf-blind people in the United States more than half are affected by Usher Syndrome. 10

The following are the possibilities if the individual is a carrier of Usher syndrome. 

  • 1 in 4 chance of having a child with Usher syndrome
  • 2 in 4 chance of having a child who is a carrier
  • 1 in 4 chance of having a child who neither has Usher syndrome nor is a carrier

Advocacy and Research

Efforts to find a cure to Usher syndrome include exploring gene therapy. Scientists are currently studying Usher syndrome to identify the location of the defective gene and a chromosomal marker.11 Researchers may then be able to develop effective treatment for the disease once this gene is found and identified. There is currently no known cure for Usher syndrome.10 There are strategies that healthcare providers can implement to assist the children that are diagnosed with the affliction. Exercises and therapy are used to supplement the loss of visual acuity and hearing associated with the diagnosis.11  An excellent advocacy group concerned with Usher syndrome would be Foundation Fighting Blindness. They actively participate in patient representation for those who are blind through clinical trials and social awareness. 12 They can be found at https://rarediseases.org/organizations/foundation-fighting-blindness/

Trial Runners has participated in rare disease studies of the eye including Non Infectious Uveitis. For more info, please contact our company and see how we can add value to your study. 

Sources

1. Myopia. NIH, National Eye Insitute. https://nei.nih.gov/eyedata/myopia

2.Retinoblastoma. NORD. https://rarediseases.org/rare-diseases/retinoblastoma/

3. Facts about Retinoblastoma. NIH, National Eye Institute. https://nei.nih.gov/health/retinoblastoma/blastoma

4. Idiopathic Intracranial Hypertension. NIH, National Eye Institute https://nei.nih.gov/health/iih/intracranial\

5.  Idiopathic Intracranial Hypertension. NORD. https://rarediseases.org/rare-diseases/idiopathic-intracranial-hypertension/

6. Intracranial Hypertension Research Foundation. http://ihrfoundation.org/

7. Retinoblastoma. American Family Physician. http://www.aafp.org/afp/2006/0315/p1039.html

8. Suicide Gene Therapy. NCBI. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842193/

9. Childhood Eye Cancer Trust. https://chect.org.uk/

10. Facts About Usher Syndrome. NIH, National Eye Institute. https://nei.nih.gov/health/ushers/ushers

11. Usher Syndrome. NORD. https://rarediseases.org/rare-diseases/usher-syndrome/

12. Foundation Fighting Blindness. NORD. https://rarediseases.org/organizations/foundation-fighting-blindness/

13. Rare Diseases. NIH, National Eye Institute. https://nei.nih.gov/health/rare