Eye and Vision Issues

Last Updated: 04/14/14

Index

  1. Juvenile Cataracts - PSC and CC
  2. Retinal Detachment
  3. Hyperpigmentation RPE
  4. Combined Hamartoma of the Retina
    and RPE
  5. Retinal Microaneurysms
  6. Opric Disc Glioma
  7. Papilledema
  8. Congenital Glaucoma
  9. Nystagmus and Oscillopsia
  10. Diplopia (Double Vision)
  11. Epiretinal Membranes
  12. Dry Eyes / Excessive Tearing
  13. Gaze-evoked Tinnitus

Also See:

The Human Eye

An Ophthalmologist should be seen every other year by everyone. But anyone with Neurofibromatosis (NF); NF1, NF2, and Schwannomatosis, should see also see a Neuro-Ophthalmologist who is familiar with NF yearly for optic neurological issues that can develop.

A Neuro-Ophthalmologist is a physician (Neurologist or Ophthalmologist), specializing in diseases affecting vision that originate from the nervous system. An Ophthalmologist would not be familiar enough with some of the neurological issues that are a result of NF and review of MRI's by an eye doctor which would only be done by a Neuro-Ophthalmologist.

Some eye issues that are regular occurrences for individuals with NF2 are specific to NF2. These issues can be used as a method for simple diagnosis of NF2 when found in children:

  • Juvenile Cataracts which would likely be Posterior Subcapsular / Capsular Cataracts (PSC Cataracts) but could also be Cortical Cataracts (CC)
  • Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE or CHRPE)

People in general, normally have vision changes as they get older, but people with NF have specific eye issues in addition to the ones already mentioned. While an Ophthalmologist should be seen every other year by people in general, a Neuro-Ophthalmologist should be seen yearly following brain MRIs.

It is estimated that twenty percent of vision loss issues due to NF2 occur for undetermined reasons. Common Ocular Abnormalities that can develop for NF2 include:


Cataracts, Anterior Chamber, Posterior Chamber, Retinal Blood Vessels, Retina,

1. Juvenile Cataracts

Age Related Cataracts can develop by 65 years of age, but can develop in individuals as young as 40. However, for people with NF2, it is not Age Related Cataracts that develops. It is a Secondary Form of Cataracts that can develop at birth, or can develop well before 65 years.

Juvenile Cataracts can result in visual impairments including; blurry vision, poor vision at night, severe reactions to glare, as well as a visibly cloudy or white spot that can be seen cover the eye.

While there are 2 ways they can form, PSC Cataracts are the most common for NF2 and are more difficult to remove then CC:

1. Posterior Subcapsular / Capsular Cataracts (PSC Cataracts)

Posterior Subcapsular / Capsular Cataracts (PSC Cataracts) is a form of Cataract that forms behind the Iris and Lenses in the Posterior Chamber.

PSC visual disturbance is seen as a halo effect or glare around lights.

2. Cortical Cataracts (CC)

Cortical Cataracts (CC), is also referred to as Peripheral Cortical Lens Opacities or simply Cortical Opacities, is a form of Cataracts that occurs just behind the Cornea inside the Anterior Chamber of the eye.

CC visual disturbance that would result from this include; peripheral (outside) vision issues at the edges of the lens of the eye as well as result in blurred vision, glare, contrast and depth perception issues.

Cataract Treatment

Surgical options are available for both Cataract forms, typically requires artificial lens "intraocular lens" implantation at the time of cataract surgery to replace the damaged natural lens also known as "crystalline lens". Following Cataract surgery glasses will likely be needed, if glasses are already worn prior to surgery, a new eye exam and lenses would be required.

Surgical Issue

Retinal Detachment is a possible issue. In prevention of complications or proper quick management of issues it is important to make certain the surgeon is trained in and has done PSC Cataracts in the past.

2. Retinal Detachment

Retinal Detachment also known as Retinal Tear is the result of a weak or thin retina which detaches leaving a break in the retinal thereby allowing fluid to pass under the retina. Following this the retina peels away from the back of the eye. With this issue the retina separates from the underlying tissue resulting in vision loss and blindness.

Causes

Retinal Detachment is typically the result of Cataract surgery weeks or months later, but can also be Spontaneous as well.

Signs

Warning signs include flashing lights, floaters, or blind spots.

Treatment

Surgical options are possible to correct this if done within 24 hours after detachment occurs.

3. Hyperpigmentation RPE

Retinal Pigment Epithelium (RPE) is a layer in the eye that shields the retina from excess incoming light.

Other names for Hyperpigmentation RPE include; Hyperpigmentation of the Retinal Pigment Epithelium, Pigmented Layer of Retina, Pigmentum Nigrum or Intraretinal Leakage of Fluorescein.

Hyperpigmentation RPE is intraretinal leakage of fluorescein which is Cystoid Macular Degeneration (CMD). CMD, is damage to the retina that results in vision loss to Central Vision without changes to Peripheral Vision.

4. Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE or CHRPE)

Hamartoma of the Retina, also known as Retinal Hamartoma and Retinal Pigment Epithelium (CHRRPE or CHRPE), is when glial tissue is found in different parts of the eye. This causes blood vessels issues and pigment epithelium, resulting in profound vision loss.

Combined hamartoma of the retina and the retinal pigment epithelium is a rare benign lesion in the macula, juxtapapillary, or peripheral location that is commonly found in children and that consists of the glial cells, vascular tissue, and sheets of pigment epithelial cells.

Hamartoma is pigmented benign cell tissue, an excess of normal tissue.


5. Retinal Microaneurysms

Retinal Microaneurysms are small aneurysm in the retinal capillaries. This can be seen as small amounts of swelling in the wall of blood vessels within the eye that look like small, round, red spots.


6. Optic Disc Glioma


7. Papilledema

Papilledema is swelling of the optic disc. It can be seen as pressure behind the eyes in an eye exam and is typically the result of Hydrocephalus (CSF pressure buildup) and typically would be seen in both eyes, but it is possible for it to occur in only one. Left untreated Papilledema can result in blindness.

Causes: Brain tumors in different locations of the brain can cause this.

Symptoms: Sometimes no symptoms are noticed by the individual. When there are symptoms, they would include headache or unexplained nausea.

Visual disturbances can include blind spot, blurring of vision or vision loss for different periods of time all which can lead to permanent.

Other symptoms of Papilledema would only be seen in an eye exam by a Neuro-Ophthalmologist and would require an MRI to determine the cause. Persistent and extensive optic nerve swelling, or optic disc edema, can lead to loss of these fibers and permanent blindness.


8. Congenital Glaucoma


9. Nystagmus and Oscillopsia

Nystagmus causes Ocular Flutter (random eyes movement away from point of intended focus) and often results in reduced vision. The development of Nystagmus is common for individuals with NF2, it can be the result of the following issues:

  • Congenital Nystagmus (Infantile Nystagmus): This can development of a result of Juvenile Cataracts.
  • Vestibular Nystagmus: A result of damage to the Vestinlear System and would more likely result in Oscillopsia than Congenital Nystagmus. Oscillopsia is blurry vision as a result of rapid eye movement.

10. Diplopia aka Double Vision

The first two forms of Diplopia are of concern to people with NF2. Eye surgery or prism glasses might be options to correct these issues if noticed early enough. Talk to your doctor.

Binocular Diplopia

I. Forms of Diplopia

  1. Binocular
  2. Binocular is misalignment with 2 eyes: both eyes facing in, booth facing out, one eye facing in, or one facing out, which is seen as Double Vision.

    Binocular Diplopia is the result of Strabismus. There are two form of Strabismus; cross-eye and walleye, they are different angles of perception and can be the result of eye muscle coordination or a brain issue.

    Muscle coordination could be the result of damage to Cranial Nerves 3, 4, or 6. This is frequently the result of tumor damage, which can be fixed with surgery to remove the tumor and tightening of the weakened muscles.

    Amblyopia is a brain issue that results in one lazy eye that has no vision and vision is only perceived in the other eye. Cross-eye and walleye treated early can prevent the development of Amblyopia.

  3. Monocular
  4. Monocular Diplopia is damage to an eye that results in double vision seen with only the damaged eye. This is the result of damage to the cornea of the eye itself. This results in multiple images, seen.

  5. Voluntary
  6. Voluntary Diplopia is when an individual has normal eye alignment but can switch to Binocular eye alignment or Binocular eye alignment and can switch to normal eye alignment.

  7. Temporary
  8. Temporary Diplopia might result in Binocular and Monocular vision and can be the result of; head trauma, certain medications, alcohol, or eye strain. If it continues consult with your optometrist.

II. Result of

There are a many issues that can result in Diplopia, some of which include:

  1. Cornea Scars
  2. Cornea scars and dry cornea can damage the eye and result in double vision. Dry eyes are a common NF2 issue and many individuals need to use a constant amount of eye drops.

  3. Juvenile Cataracts
  4. Juvenile Cataracts frequently develops at a very early age for individuals with NF2 and would result in distorted vision.

  5. Eye Muscle Issues
  6. If the muscle in one of the eyes is weaker than the other, the development of double vision would be the result of the eyes not focusing together.

    This might develop if the Facial Nerve is damaged as a result of eyelid closure issues.

  7. Cranial Nerve Damage
  8. The third, fourth, and sixth cranial nerves each control different aspects of eye muscle position. Muscle control can be lost could be a result of one of those cranial nerves and result in Diplopia. CN3 the Oculomotor Nerve, CN4 the Trochlear Nerve or CN6 the Abducens Nerve.

III. Management

Management of Diplopia can be possible with the following options:

  1. Eye Exercise
  2. Lazy Eye Glasses:
    Prism Eyeglasses
  3. Eye Patch:
    Wearing a patch over the good eye to encourage strengthening of the muscle of the weaker eye.
  4. Surgery (Strabismus Muscle Surgery):
    Surgery to tighten the muscle - However this is not frequently suggested since individuals with NF2 undergo so many surgeries already.

11. Epiretinal Membranes

Epiretinal Membrane is a buildup of scar tissue that covers the retina.

A gel that naturally forms over the lens and pupil of the eye called the "the vitreous" are a result of an immune system response to protect the retina. Scar like cells make up this gel, are a form of scar tissue that can form over the eye and damage the retina's surface. At it gets thicker if it does not sit as a flat layer it puckers and the film causes blurry distorted vision.

This is typically the result of Posterior Vitreous Detachment (PVD).

Epreretinal membrane is also called Macular Pucker, Cellophane Maculopathy, Retina Wrinkle, Surface Wrinkling Retinopathy, Premacular Fibrosis, and Internal Limiting Membrane disease. This can result in Diplopia aka double vision.

12. Dry Eyes / Excessive Tearing

Dry eyes for individuals with NF2 can be the result of different issues, most commonly; poor circulation, onset of development of nerve damage, or medications.

Medications

Many of the tumor suppressor including; Bevacizumab (Avastin™), Lapatinib (Tykerb™) and RAD 001 - Everolimus (Afinitor™). These medications can cause dry eye issues and require excessive individuals to drink more water to compensate.

Dry Eye issues a result of Avastin, typically only results for the first 3 months of treatment. When taking other medications dry eye issues stop when medication is discontinued.

Facial Nerve Damage

If dry eyes are an issue, it could mean that weakening of the facial nerve. The facial nerve effects the muscles that open and close the eye in addition to producing fluid to keep moisture in the eye. Keeping moisture in the eyes is important to prevent other issues like cracked cornea.

Read about management and care of Dry Eyes / Excessive Tearing

13. Gaze-evoked Tinnitus

Gaze-evoked tinnitus (GET) is a form of Tinnitus that is affected by horizontal and / or vertical eye movement, not necessarily both. Eye movements affect pitch and tone heard.

The development of GET is one of the results of damage to hearing. GET can occur after removal of Vestibular Schwannoma (VS) aka Acoustic Neuroma (AN), which damages Cranial Nerve 8, associated with the Hearing and Balance Nerves. This can start after VS damage in one side of the head and seem to be a sound into that ear, when the eyes move. When VS damage occurs in both ears, aka Bilaterally, the sound might be in one or both ears, when the eyes move.

It is unknown exactly why this form of Tinnitus occurs, since it does not always occur after removal of VS, but it is believed to be the result of the brains attempts at reorganization of sound.


Reference Sources

  1. Kang, H. M., Koh, H. J., & Chung, E. J. (2013). Spectral-domain Optical Coherence Tomography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Neurofibromatosis. Korean Journal of Ophthalmology, 27(1), 68-71. http://synapse.koreamed.org/search.php?where=aview&id=10.3341/kjo.2013.27.1.68&code=0065KJO&vmode=FULL

  2. Feucht M, Kluwe L, Mautner V, Richard G. Feucht, Matthias, et al. "Correlation of nonsense and frameshift mutations with severity of retinal abnormalities in neurofibromatosis 2." Archives of ophthalmology 126.10 (2008): 1376. http://archopht.jamanetwork.com/article.aspx?articleid=420813

  3. Harada, Takayuki, et al. "Severe optic disc edema without hydrocephalus in neurofibromatosis 2." Japanese journal of ophthalmology 42.5 (1998): 381-384. http://www.nichigan.or.jp/jjo-oj/pdf/04205/042050381.pdf

  4. National Institutes of Health (NIH). "Omega-3 Fatty Acids Protect Eyes Against Retinopathy, Study Finds." NIH News. National Eye Institute., June 24, 20071:00 p.m. EDT. http://www.nih.gov/news/pr/jun2007/nei-24.htm

  5. Wikimedia Foundation, Inc.. "Neuro-ophthalmology." Wikipedia. Web. 24 February 2013 at 13:03. http://en.wikipedia.org/wiki/Neuro-ophthalmology

  6. Wikimedia Foundation, Inc.. "Neuro-ophthalmology." Wikipedia. Web. 11 March 2013 at 20:40. http://en.wikipedia.org/wiki/Photophobia


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