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Retinitis

Pigmentosa
Biology, Term 4, 2015

Dean Ramsay
St Augustines College

Dean Ramsay
General Information
Rod

Retinitis Pigmentosa (commonly referred to as RP) is an eye
condition that is inherited genetically. RP was first diagnosed by
Cone
DR. F.C. Bonders and documented by John Hecken-Lively in 1855
in his Medical Journal called R.P. (Scarangella, 2000). This eye
condition causes the progressive and slow degradation of the
light-sensitive retina cells at the back of the eye. A seen here these
cells are called photoreceptors and are split into two categories;
cones and rods (Genetics Home Reference, 2010). There are
approximately 120 million rods in the average human retina. The
rods are responsible for the processing of light levels, movement
and shape to send signals to the brain. Most types of Retinitis
Pigmentosa affect only the rods meaning sufferers will retain
central vision and colour vision which are functions of the cones.
These photoreceptor cells are sensitive to one of the three main
colours; red, green and blue. The average human retina contains
approximately 6 million cones and without these a person will be
diagnosed as legally blind (Faculty.washington.edu, 2015).

The differences between rods
Forms and inheritance patterns of Retinitis Pigmentosa
and cones.

(STUDYBLUE, 2015)
As it can be caused by up to 100 different defective genes there

are many different forms and inheritance patterns of Retinitis
Pigmentosa. These include:

Congenital RP, also known as Libers Congenital Amourosis, is a form of RP that is apparent at
birth. It is commonly associated with loss of vision in infancy. Other symptoms of this form of
RP are eye roving movements, increased sensitivity to bright light and deep set eyes
(Scarangella, 2000) (Blindness.org, 2015).

Autosomal Recessive RP is a form of inheritance where both parents have the recessive gene
of Retinitis Pigmentosa. This form of RP does not appear on sex chromosomes and two
abnormal copies of the gene must be present to develop the physical trait. This is the most
commonly inherited form of RP equating to 84% of all cases of RP. One in every 80 people in
the general population carry the recessive gene. An explanation of this form of RP is that
autosomal means not carried on the sex chromosomes

Autosomal Dominant RP is the opposite of Autosomal Recessive RP as one parent is known
to have the dominant gene. This form of inheritance also does not appear on the sex
chromosomes, but only one abnormal copy of the gene must be present in the affected
offspring. The chances of a child, male or female, inheriting the disease during pregnancy is
50% for this form of Retinitis Pigmentosa (Blindness.org, 2015).

X-linked Recessive is a form of RP carried by the usually healthy mother. It is a rarer form of
RP which is passed onto a mothers sons only via the X chromosome. Sons have a 50% chance
of inheriting RP of this form and daughters have a 50% of becoming carriers.

Dean Ramsay
Other diseases commonly related with Retinitis Pigmentosa include; Usher disease, Refsums
disease and Bardet-Biedl Syndrome (Better Health Channel, 2015) (Scarangella, 2000).

Symptoms

The symptoms of Retinitis Pigmentosa do not commonly appear until the later years of
childhood as the photoreceptors deteriorate. The first symptoms of RP depend on the
photoreceptor cells affected. The most common first symptom of RP when the rods are
affected is night blindness. This is when the sufferer loses their ability to see and navigate in
low lighting (Visionaustralia.org, 2012). Another common symptom of RP when the
photoreceptor rods are affected is loss of peripheral vision, otherwise known as tunnel vision
(PubMed Health, 2015) (Genome.gov, 2013). This is due to the fact that a large portion of the
rods are located in the peripherals of the eyes. Therefore, as they deteriorate the sufferers
peripheral vision begins to decrease. The final common symptom of RP affecting the rods is
light and glare sensitivity (Better Health Channel, 2015). People who suffer from Retinitis
Pigmentosa mainly affecting the rods will generally retain their central vision if their cones
are not affected. Sufferers of the rarer form of Retinitis Pigmentosa that affects the rods and
cones will have symptoms such as loss of central vision and difficulty with colour distinction.
People who suffer from this form of RP will commonly be diagnosed as legally blind in
adulthood (Faculty.washington.edu, 2015).

Diagnosis

The most common and accurate way to diagnose Retinitis Pigmentosa is through an
Electroretinogram (ERG). This test measures the electrical activity of the retina when exposed
to light and dark conditions through a series of electrodes on the persons head. It is painless
for the patient and may be done several times to monitor the progress of the condition (Better
Health Channel, 2015). The results recorded in this test are printed on a graph and compared
to normal responses from healthy eyes (Peeters & Baert, 2010). Although this is the most
accurate way to test for RP there are also other tests which may be conducted by an
Optometrist. One example of this is a visual field test where the patients central and
peripheral vision is tested (Scarangella, 2000). Another test an Optometrist may conduct is a
Fluorescein Angiogram. This is an uncommon procedure where dye is injected into the blood
stream to highlight blood vessels in the back of the eye. This allows the blood vessels and
blood flow in the retina and choroid to be photographed and monitored (Lusby, 2014).

Cure/Treatment

There is no known treatment or cure to prevent or slow the progression of Retinitis


Pigmentosa. Despite this, researchers around the world are still to this day researching and
trying to formulate a treatment for RP. Some have tried treatment with vitamins and certain
fatty acids, however none of these treatments have shown any significant effects
(Scarangella, 2000). As of 2015 there are three main areas of research into the treatment of
Retinitis Pigmentosa. The first of these is gene therapy. This is where scientists are trying to
introduce a healthy gene into the retina in place of the previous faulty gene. The second
treatment involves the transplanting of the deteriorating retina photoreceptor cells with
healthy cells. The final treatment is retinal prosthesis, the use of an implantable light sensitive

Dean Ramsay
electrode. The electrode would be implanted into the damaged retina and act as a bionic
retina (Better Health Channel, 2015). Unfortunately to this date none of these experimental
treatments have had any clinical success.

Dean Ramsay

References

Better Health Channel, (2015). Eyes - retinitis pigmentosa - Better Health Channel. [online] Available
at:
http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Eye_conditions_retinitis_pig
mentosa [Accessed 17 Oct. 2015].
Blindness.org, (2015). Retinitis Pigmentosa | blindness.org. [online] Available at:
http://www.blindness.org/retinitis-pigmentosa [Accessed 19 Oct. 2015].
Faculty.washington.edu, (2015). Neuroscience For Kids - Retina. [online] Available at:
https://faculty.washington.edu/chudler/retina.html [Accessed 20 Oct. 2015].
Genetics Home Reference, (2010). Retinitis pigmentosa. [online] Available at:
http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa [Accessed 18 Oct. 2015].
Genome.gov, (2013). Learning about Retinitis Pigmentosa. [online] Available at:
http://www.genome.gov/13514348 [Accessed 18 Oct. 2015].
Lusby, F. (2014). Fluorescein angiography: MedlinePlus Medical Encyclopedia. [online] Nlm.nih.gov.
Available at: https://www.nlm.nih.gov/medlineplus/ency/article/003846.htm [Accessed 21 Oct.
2015].
PubMed Health, (2015). Retinitis Pigmentosa - National Library of Medicine - PubMed Health.
[online] Available at: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024256/ [Accessed
19 Oct. 2015].
Scarangella, C. (2000). The History of Retinitis Pigmentosa. [online] Jwen.com. Available at:
http://www.jwen.com/rp/articles/hist.html [Accessed 20 Oct. 2015].
Visionaustralia.org, (2012). Retinitis Pigmentosa. [online] Available at:
http://www.visionaustralia.org/eye-health/eye-conditions/retinitis-pigmentosa [Accessed 18
Oct. 2015].

Articles
Peeters, C, & Baert, M 2010, Retinitis Pigmentosa: Causes, Diagnosis and Treatment, Nova Science
Publishers, Inc, New York.

Rehman, Hu 2015, 'Retinitis Pigmentosa', The New Zealand Medical Journal, vol. 128, no. 1415, pp.
54-55.

Dean Ramsay
Images

Cover Image: Rpfightingblindness.org.uk, (2015). Figure 5b - Retinitis Pigmentosa Fundus Image.


[online] Available at: http://www.rpfightingblindness.org.uk/index.php?pageid=205&tln=aboutrp
[Accessed 18 Oct. 2015].

Image 1: STUDYBLUE, (2015). STUDYBLUE | Find and share online flashcards and notes from
StudyBlue. Any subject, anywhere, anytime.. [online] Available at:
https://www.studyblue.com/#flashcard/view/5665773 [Accessed 18 Oct. 2015].