Gradual Loss of Peripheral and Night Vision: A Case Study

on a Patient Suffering from Retinitis Pigmentosa

This Case Study is submitted to:

Prof. Jacquilyn Mallilin-Sales

As partial fulfillment of the requirements

for the subject “Genetics (SCI MAJ 9)”

Submitted by:

Lorenzo, Jan Patrick O.

Garcia, Kristine

1st Semester, SY 2018-2019

Gradual Loss of Peripheral and
Night Vision: A Case Study on a
Patient Suffering from Retinitis
Pigmentosa
I. Introduction.
Retinitis Pigmentosa (RP) is considered
to be a group of rare genetic disorder.
However, there is no current statistical
data showing its actual prevalence, but
it is estimated to affect 1 in every 4000
people worldwide [ CITATION Nat14 \l 13321
] by scanning and examining the retina-
In the Philippines, Uy et al (2018)
reiterated the prevalence of 1:4000
when they conducted a review of 100
RP patients in the country where they
showed the mean age of patients
presenting with RP is at 50.3±16.8 from
a range of 9-82 years old.
II. Background on Retinitis Pigmentosa
A. What is Retinitis Pigmentosa?
Retinitis Pigmentosa or RP is a group of
diseases on the eye where
photoreceptor cells are gradually loss
and broken down due to some problems
with the patient’s genes. Because of the
problems with the photoreceptor cells,
this condition changes how the retina
responds to light, making it hard to see.
People with RP lose their vision slowly
over time. Usually, though, they will not
become totally blind but experience
“tunnel vision” or the loss of peripheral
vision. [ CITATION Nat14 \l 13321 ].
Further, RP’s symptoms usually include
difficulties seeing at night. Though the
onset of symptoms varies, it usually
begins at the age of 10 to 30 years old.
In addition, the speed of vision loss
differs from person to person as there
are different types of RPs [ CITATION
The18 \l 13321 ].
B. How is RP Diagnosed?
RP is diagnosed by an ophthalmologist
which is the main part of the eye
affected by the disease. Through an
ophthalmoscope an eye care
professional can see abnormal, dark
pigment deposits that streak the retina
which gave it the name retinitis
pigmentosa [ CITATION Nat14 \l 13321 ].
Aside from which, The United States
National Eye Institute (2014) says RP
can also be diagnosed through the help
of the following:
 Electroretinogram (ERG). An
ERG measures the electrical
activity of photoreceptor cells.
This test uses gold foil or a
contact lens with electrodes
attached. A flash of light is sent
to the retina and the electrodes
measure rod and cone cell
responses. People with RP have a
decreased electrical activity,
reflecting the declining function
of photoreceptors.
 Visual field testing. To
determine the extent of vision
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 loss, a clinician will give a visual
field test. The person watches as
a dot of light moves around the
half-circle (180 degrees) of space
directly in front of the head and
to either side. The patient pushes
a button to indicate that he or
she can see the light. This
process results in a map of their
visual field and their central
vision.
 Genetic testing. In some cases,
a clinician takes a DNA sample
from the person to give a genetic
diagnosis. In this way a person
can learn about the progression
of their particular form of the
disorder.
C. Is there a cure for RP?
There is no cure for RP but there have
been experimental treatments that are
promisingly useful for patients suffering
from RP. For example, the NEI has
sponsored a clinical trial which found
that a daily dose of 15,000 international
units of vitamin A palmitate modestly
slowed the progression of the disorder
in adults. Another experimental
treatment involves the use of an
artificial vision device called Argus II
that is consist of a light-sensitive
electrode which is surgically implanted
on the retina. Then, a pair of glasses
with a camera wirelessly transmits
signals to the electrode that are then
relayed to the brain. Study showed that
it does not restore normal vision, but
the Argus II enabled people with RP to
read large letters and navigate
environments without the use of a cane
or guide dog [ CITATION Nat14 \l 13321 ]
III. Genes Associated with RP
RP has different types depending on the
specific gene that mutated. Mutated
genes give the wrong instructions to
photoreceptor cells, telling them to
make an incorrect protein or too little or
too much protein. (Cells need the proper
amount of particular proteins in order to
function properly.) Such mutations in
dozens of genes have been linked to RP
[ CITATION Nat14 \l 13321 ].
Specifically, most common mutation is
found in the rhodopsin gene that
accounts for about 25% of autosomal
dominant forms of RP. Also, it has been
found that it is the RPGR gene that is
gene that provides instructions for
making a protein that is essential for
normal vision. When this mutates, the
most common disorder that occurs is RP
[ CITATION McK16 \l 13321 ].
IV. How is RP inherited?
Genetic mutations can be passed from
parent to offspring through one of three
genetic inheritance patterns —
autosomal recessive, autosomal
dominant, or X-linked.
In autosomal recessive RP, both parents
carry one copy of the mutated gene, but
have no symptoms themselves. Children
have a 25% chance of being affected by
inheriting a mutated copy from each
parent. Fifty percent is the chance that
Page 2 of 6
a child will be a carrier but won’t have References
phenotypical manifestation.

In autosomal dominant RP, usually one

parent is affected and is the only parent
with a mutated gene. A child has a 50
percent chance of being affected
through the inheritance of the mutated
gene from the parent.

In families with X-linked RP, the mother

carries the mutated gene on an X
chromosome, and her sons have a 50
percent chance of inheriting the
condition. Daughters have a 50 percent
chance of becoming carriers and aren’t
usually affected. However, some
daughters are affected though-
sometimes mildly, sometimes severely
[ CITATION Nat14 \l 13321 ].

VIII.

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McKusick, V. A., & Kelly, J. (2016, April 18). RETINITIS PIGMENTOSA. Retrieved from
Online Mendelian Inheritance in Man: https://omim.org/entry/268000
National Eye Institute. (2014, May). Facts About Retinitis Pigmentosa. Retrieved from
nei.nih.gov: https://nei.nih.gov/health/pigmentosa/pigmentosa_facts
The RP Helpline. (2018, August). About RP. Retrieved from RP Fighting Blindness:
https://www.rpfightingblindness.org.uk/index.php?tln=aboutrp
Uy, H., Tan, P., Chan, P., & Cruz, F. (2018). Clinical Profile of Retinitis Pigmentosa
Patients. Controversies in Ophthalmology: Asia-Australia. Manila: ComtecMed.

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