late-adult onset retinitis pigmentosa

Late-Adult Onset Retinitis Pigmentosa (RP)

Retinitis pigmentosa, late-adult onset is a condition where symptoms typically begin in the fifth or sixth decade of life [5]. This type of RP is characterized by slow progression and can be challenging to diagnose due to its late onset.

Symptoms

The early symptoms of late-adult onset RP may include:

• Problems with night vision
• Difficulty seeing in dim light
• Blind spots in peripheral (side) vision

As the condition progresses, later symptoms may include:

• Vision loss and blindness [2]

Characteristics

Late-adult onset RP is a rare form of RP that affects individuals in their 50s or 60s. It is often associated with a slower progression compared to other forms of RP.

References

[1] M Tsujikawa, et al. (2008) - Cited by 85 [2] Nov 15, 2023 - At a glance: Retinitis Pigmentosa [5] Retinitis pigmentosa, late-adult onset is a condition where symptoms typically begin in the fifth or sixth decade of life. [8] C Hamel (2006) - Cited by 1255

Retinitis pigmentosa (RP) is a group of genetic disorders that affect the retina’s ability to respond to light, causing a slow loss of vision. In late adulthood, RP symptoms may be less noticeable due to the gradual progression of the disease.

Common signs and symptoms in late-adult onset RP:

• Gradual loss of peripheral vision: People with late-adult onset RP may experience a slow decline in their ability to see objects out of the corner of their eye [2].
• Difficulty adjusting to light changes: Individuals with RP may have trouble adjusting to changes in lighting, such as going from bright sunlight to a dimly lit room [4].
• Blind spots in peripheral vision: As the disease progresses, people with RP may notice blind spots in their peripheral (side) vision [3].
• Loss of central vision: In late adulthood, individuals with RP may experience a gradual loss of central vision, making it difficult to perform detailed tasks such as reading or threading a needle [2].

Other possible symptoms:

• Night blindness: People with RP may have difficulty seeing in dim light, which can be a sign of the disease [1].
• Vitreous cells and depigmentation: In some cases, late-adult onset RP may be associated with vitreous cells, depigmentation, and atrophy of the retinal pigment epithelium (RPE) [13].

It's essential to note that each person experiences symptoms differently, and the progression of the disease can vary significantly from one individual to another. If you're concerned about your vision or suspect you may have RP, consult an eye care professional for a proper evaluation and diagnosis.

References: [1] - Context result 8 [2] - Context result 5 [3] - Context result 2 [4] - Context result 4

Diagnostic Tests for Late-Adult Onset Retinitis Pigmentosa

Retinitis pigmentosa (RP) can be diagnosed using various tests, including:

• Electroretinogram (ERG): This is the most critical diagnostic test for RP. It measures the electrical activity of the retina in response to light stimulation [9].
• Optical Coherence Tomography (OCT): OCT scans can detect loss of photoreceptors and pigment deposits in the retina, which are characteristic of RP [8].
• Fundus Autofluorescence: This imaging modality can help diagnose late-onset RP by detecting abnormal autofluorescence patterns in the retina [12].
• Genetic Testing: Genetic testing can be done to determine the exact sequence of the underlying genetic variant. This is particularly useful for patients with a family history of RP or those who have already undergone genetic testing [7].

Additional Tests

Other tests that may be recommended to investigate how RP affects an individual's vision include:

• Electro-oculogram (EOG): While not helpful in diagnosing RP, EOG can provide information on the function of the retina

Current Treatment Options for Late-Adult Onset Retinitis Pigmentosa

While there is no cure for retinitis pigmentosa (RP), a gene therapy product called voretigene neparvovec-ryzl (Luxturna) has been approved by the FDA to treat a specific type of RP caused by mutations in the RPE65 gene [1]. However, this treatment is only available for a small group of patients with confirmed RPE65 mutations.

Other Treatment Options

For late-adult onset RP, cataract surgery can often be beneficial in improving vision [3]. In fact, a study found that 83% of patients with RP improved by 2 lines on the Snellen visual acuity chart after undergoing cataract surgery. Additionally, eye drops such as dorzolamide may reduce swelling from macular edema, and medication like acetazolamide (Diamox) may also help alleviate symptoms [8].

Current Research

Researchers are working hard to develop genetic therapies for RP, including gene therapy products that can target specific mutations causing the condition. However, at this time, there is no curative treatment available to slow vision loss in RP or associated retinal disorders [7]. Scientists are exploring various treatment options, and it's essential to consult with a healthcare professional for personalized advice.

References

• [1] FDA approval of voretigene neparvovec-ryzl (Luxturna) for the treatment of RPE65 gene-related retinitis pigmentosa.
• [3] Bastek et al. study on cataract surgery in patients with RP.
• [7] Current research on genetic therapies for RP.
• [8] Treatment options for macular edema and other eye problems associated with RP.

Note: The information provided is based on the search results and may not be comprehensive or up-to-date. It's essential to consult with a healthcare professional for personalized advice and treatment.

Differential diagnosis of late-adult onset retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of inherited eye diseases that affect the retina, and its differential diagnosis can be challenging, especially in cases with late-adult onset. The following conditions should be considered as part of the differential diagnosis for late-adult onset RP:

• Other genetic disorders: Other genetic disorders that cause retinal degeneration, such as Usher syndrome, Batten disease, or Leber congenital amaurosis, can present similarly to RP in adults [1].
• Age-related macular degeneration (AMD): AMD is a common condition in older adults that can cause progressive vision loss and may be mistaken for RP [2].
• Diabetic retinopathy: Diabetic retinopathy is a complication of diabetes that can cause damage to the retina and may present with similar symptoms to RP, such as night blindness and peripheral visual field defects [3].
• Other retinal degenerations: Other retinal degenerations, such as cone-rod dystrophy or Stargardt disease, can also be considered in the differential diagnosis of late-adult onset RP [4].

Key factors to consider

When considering the differential diagnosis for late-adult onset RP, it is essential to take into account the following key factors:

• Age of onset: Late-adult onset RP may present differently than early-onset RP, and other conditions should be considered in this age group.
• Symptoms: The symptoms presented by the patient, such as night blindness or peripheral visual field defects, can help narrow down the differential diagnosis.
• Family history: A thorough family history is essential to determine if there is a genetic component to the condition.

References

[1] C Hamel · 2006 · Cited by 1256 — Clinical diagnosis is based on the presence of night blindness and peripheral visual field defects, lesions in the fundus, hypovolted electroretinogram traces, ...

[2] May 16, 2024 — Age-related macular degeneration (AMD) is a common condition in older adults that can cause progressive vision loss.

[3] Chen RW, et al. The role of fundus autofluorescence in late-onset retinitis pigmentosa (LORP) diagnosis. Ophthalmic Gen. 2013 Jul 30. [Epub ahead of print].

[4] Retinitis Pigmentosa - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version.