Signs and Symptoms of Retinitis Pigmentosa

Retinitis pigmentosa (RP) refers to a group of rare inherited diseases characterized by degeneration or abnormalities of the photoreceptors of the retina, leading to progressive visual loss.

Worldwide, the prevalence of RP 14 to 33 per 100,000. Most cases of RP are inherited, however there are some who do not have family history. This could be caused by genetic mutation, which had taken place randomly during the development of the egg, sperm, or embryo.

Signs of RP can usually be detected during a routine eye examination when the patient is around 10 years old. However, symptoms usually do not manifest until adolescence.

While the disease worsens as time goes by, most patients retain at least partial vision and complete blindness is rare. There is currently no known cure or effective treatment for it, but there are some possible ways to manage the condition.

Symptoms will vary per person, but these complaints are commonly found in those diagnosed Retinitis Pigmentosa.

Night blindness

The first clinical manifestation that you will probably experience is difficulty seeing objects at night or a defective adaptation to darkness—medically known as nyctalopia. 

Normally, if you are exposed to a dark place, you cannot see at first, but then, after some time, you begin to see objects as the rods in your eyes adjust. If you are suffering from RP, you cannot adapt to the darkness and you remain unable to see even after giving yourself adequate time. All these abnormalities could take place in a progressive manner so that you will not be able to observe and notice them at once.

Decreased peripheral vision

Night blindness can be followed, or accompanied by, a difficulty seeing objects located at your side. Thus, you will not be able to see people walking at your sides.

If you experience night blindness and decreased  peripheral vision, these should prompt you to seek consultation from a medical doctor, preferably an ophthalmologist.

Photopsia

If you have been suffering from RP, you will see flashes of light, although it does not really exist. This is medically known as ophthalmopathy hallucinations. This symptom is commonly associated with other conditions such as retinal break or detachment, posterior vitreous detachment, migraine with aura, migraine aura without headache, occipital lobe infarction, and sensory deprivation.

Decrease in, or loss of central vision

Reduced or loss of central vision often occurs after symptoms of night and peripheral  vision as the condition progresses. Thus, if you complain of symptoms which are related to loss in  central vision, it is greatly possible that your disease has advanced and has reached the later stages. By the time you complain of loss in central vision your cones have been adversely affected.

Physical Manifestations will vary per person, but in general these findings are commonly noticed on physical exam in those with Retinitis Pigmentosa

Waxy pale optic nerve

To see the back of the eye, your medical provider will do a fundoscopic exam. He or she will either use a slit lamp or an ophthalmoscope to see the condition of your retina, fundus, optic nerve, and other important structures. 

If your optic nerve is undergoing degeneration or has damage, it appears as pale compared to its normal color and could be described as “waxy pale optic nerve” in contrast to its normal color which is orange to red. 

This finding suggests that your optic nerve has ongoing damage somewhere along its length from the retina to the lateral geniculate body (relay center in the thalamus for the visual pathway and receives a major sensory input from the retina). 

Refractive error

Refractive error means that the shape of your eye does not bend light correctly, resulting in a blurred image. The main types of refractive errors are myopia (nearsightedness), hyperopia (farsightedness), presbyopia (loss of near vision with age), and astigmatism. 

Based on a particular study which reviewed the findings of 457 individuals afflicted with RP, 93% of them showed refractive error. Myopia was found in 79% and 60% of these cases had an associated astigmatism. Furthermore, only 10% were afflicted with hypermetropia or hyperopia and of those only 4% with an astigmatism.

Presence of cataracts

Cataract is a medical condition wherein the lens of your eyes become progressively opaque, resulting in blurred vision. The cause is not definitely known, but it has been determined to be more prevalent among patients  with RP.

Changes in the fundus

The earliest changes that could be observed in the fundus if you have RP are: (1) narrowing of the arteries, (2) presence of fine dust-like intraretinal pigmentation, and (3) loss of pigment from the pigment epithelium.  Normally, your fundus appears orange to red.  If there are  brown or black spots, then you very well maybe suffering from RP.

Dust-like particles in the vitreous

The clear gel that  fills  the  space between your lens and your retina is called the vitreous. In RP, there are dust-like particles found in your vitreous.

If you are experiences any of these conditions contact your medical provider for an evaluation.

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