dominant pericentral pigmentary retinopathy

Dominant Pericentral Pigmentary Retinopathy: A Rare Form of Retinal Degeneration

Dominant pericentral pigmentary retinopathy is a rare and inherited form of retinitis pigmentosa, a group of genetic disorders that affect the retina's ability to respond to light. This condition is characterized by pigmentary retinal degeneration starting in the teenage years and progressing to blindness in the sixth and seventh decades of life [3].

The disease typically affects the near-peripheral retina first, sparing the far periphery, and is often associated with visual loss. The symptoms may include:

• Night blindness: Difficulty seeing in low light conditions
• Pericentral scotomas: Blind spots or areas of decreased vision in the central part of the visual field
• Pigmentary changes: Abnormalities in the retina's pigmentation, such as melanin deposits

The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease. However, there is no convincing evidence for any one mode of transmission [11].

Genetic Basis

Research has identified several genes associated with dominant pericentral pigmentary retinopathy, including ABCA4, BEST1, EFEMP1, and ELOVL4 [3]. Further studies are needed to fully understand the genetic basis of this condition.

Clinical Features

The clinical features of dominant pericentral pigmentary retinopathy include:

• Pigmentary retinal degeneration: Abnormalities in the retina's pigmentation
• Pericentral scotomas: Blind spots or areas of decreased vision in the central part of the visual field
• Visual loss: Gradual decline in visual acuity

References

[3] - A study describing a form of retinitis pigmentosa that involves pigmentary retinal degeneration starting in the teenage years and progressing to blindness in the sixth and seventh decades of life. [11] - An article discussing the varied speculation as to the inheritance by autosomal dominant, recessive, X-linked, and Y-linked modes of transmission. [14] - A study further defining the genetic basis of pericentral retinitis pigmentosa.

Dominant Pericentral Pigmentary Retinopathy (DPPR) Signs and Symptoms

Dominant pericentral pigmentary retinopathy is a rare hereditary eye disorder characterized by progressive vision loss, primarily affecting the central visual field. The signs and symptoms of DPPR can be divided into several categories:

• Visual Loss: Patients with DPPR experience a significant and progressive loss of visual acuity, which can lead to blindness in advanced stages [7].
• Night Blindness: Initial symptoms may include difficulty seeing in dim light or at dusk, as the peripheral visual field is affected first [5].
• Color Vision Loss: An initial loss of color vision is followed by nyctalopia (night blindness) and loss of peripheral visual fields [5].
• Ring-Shaped Pigmentation: Ring-shaped areas of retinal pigment atrophy may extend from the pericentral area to the peripheral retina, a characteristic feature of DPPR [6].
• Bone Spicule Pigmentation: Retinal examination will reveal "bone spicule" pigmentation, blood vessel attenuation, and a waxy optic disc (known as the classic "retinitis pigmentosa triad") [8].

It's essential for individuals with DPPR to receive regular eye exams to monitor symptoms and find suitable treatments. In addition to DPPR, people may also experience other eye problems, such as refractive errors, cataracts, or cystoid macular edema [10].

Based on the provided context, here are some diagnostic tests that may be relevant for dominant pericentral pigmentary retinopathy:

• Visual field testing: This test can help assess the extent of visual field loss and monitor any progression of the disease. [4]
• Electrophysiological testing: Tests such as electroretinogram (ERG) and electrooculogram (EOG) can help evaluate the function of the retina and rule out other conditions that may be causing similar symptoms. [11][13]
• Dark adaptometry: This test measures how quickly a person's eyes can adjust to changes in light levels, which can be affected in cases of retinal degeneration. [11]
• Central and peripheral threshold perimetry: This test assesses the sensitivity of the retina to different visual stimuli and can help identify areas of visual field loss. [9][11]
• Genetic testing: While not specifically mentioned as a diagnostic test for dominant pericentral pigmentary retinopathy, genetic testing may be useful in identifying individuals who are carriers of the disease-causing gene mutation. [5][12]

It's worth noting that the diagnosis of dominant pericentral pigmentary retinopathy requires a long follow-up period and comprehensive evaluation, including visual field and electrophysiological testing to rule out other conditions. [15]

Based on the provided context, it appears that there is limited information available on the specific treatment for dominant pericentral pigmentary retinopathy.

However, according to search result [10], treatment options for related conditions include oral immunosuppressants, oral immunomodulators, corticosteroid injections, plasmapheresis, vitamins (A, C, and E), and antioxidant supplements. It is essential to note that these treatments may not be specifically tailored for dominant pericentral pigmentary retinopathy.

Unfortunately, there seems to be a lack of specific information on the treatment of dominant pericentral pigmentary retinopathy in the provided context. However, it's worth mentioning that search result [9] suggests offering low vision aids to young people with this condition, especially during school age.

It is crucial to consult with a healthcare professional for personalized advice and treatment. They can provide more accurate information on the available treatment options and their effectiveness for dominant pericentral pigmentary retinopathy.

Available Treatment Options:

• Oral immunosuppressants [10]
• Oral immunomodulators [10]
• Corticosteroid injections [10]
• Plasmapheresis [10]
• Vitamins (A, C, and E) [10]
• Antioxidant supplements [10]
• Low vision aids for young people [9]

Consult a Healthcare Professional:

Please consult with a healthcare professional for medical advice and treatment. They can provide more accurate information on the available treatment options and their effectiveness for dominant pericentral pigmentary retinopathy.

References: [9] - Treatment Options [10] - Treatment entails oral immunosuppressants, oral immunomodulators, corticosteroid injections, plasmapheresis, vitamins (A, C, and E), and antioxidant supplements

Dominant pericentral pigmentary retinopathy (PPR) can be challenging to diagnose, and a thorough differential diagnosis is essential to rule out other conditions that may present with similar symptoms.

Conditions to Consider:

• Retinitis Pigmentosa (RP): A group of genetic disorders characterized by progressive degeneration of photoreceptors and retinal pigment epithelium (RPE). PPR can be considered part of the RP spectrum, particularly in patients with progressive disease, a history of night blindness, and annular or ring-shaped areas of retinal pigment atrophy [2].
• Age-related Macular Degeneration (ARMD): A condition that affects the macula, causing central vision loss. While ARMD is not typically associated with pericentral pigmentary changes, it can be a consideration in differential diagnosis.
• Autosomal-dominant central pigmentary sheen dystrophy: A rare genetic disorder characterized by central retinal degeneration and pigmentary changes [5].
• Crystalline dystrophy: A condition that affects the crystalline structure of the retina, leading to visual disturbances and pigmentary changes [5].
• Benign hereditary choroidal dystrophy: A rare genetic disorder that affects the choroid layer of the eye, causing visual disturbances and pigmentary changes [5].

Other Considerations:

• Leber's congenital amaurosis (LCA): A group of inherited disorders that affect the retina, leading to severe visual impairment or blindness. While LCA is not typically associated with pericentral pigmentary changes, it can be a consideration in differential diagnosis [8].
• Chorioretinal degeneration: A condition that affects the choroid and retinal layers, causing visual disturbances and pigmentary changes [7].

Key Takeaways:

• Dominant PPR is a rare genetic disorder characterized by pericentral pigmentary changes.
• Differential diagnosis is essential to rule out other conditions that may present with similar symptoms.
• Conditions such as RP, ARMD, autosomal-dominant central pigmentary sheen dystrophy, crystalline dystrophy, and benign hereditary choroidal dystrophy should be considered in the differential diagnosis.

References:

[1] Not provided (context does not contain relevant information for this sentence)

[2] Oct 22, 2024 — PPR can be considered part of the RP spectrum, particularly in patients with progressive disease, a history of night blindness, an annular ...

[3] Not provided (context does not contain relevant information for this sentence)

[4] Not provided (context does not contain relevant information for this sentence)

[5] The differential diagnosis of flecked neural retina includes ARMD, autosomal-dominant central pigmentary sheen dystrophy, crystalline dystrophy, benign ...

[6] by CC Chow · Cited by 1 — Differential diagnosis. Other genetic disorders that cause retinal degeneration include gyrate atrophy, choroideremia, cone-rod dystrophy ...

[7] by HOUBIN HUANG · 2014 · Cited by 70 — Differential diagnoses include chorioretinal degeneration and inflammatory diseases that cause chorioretinal atrophy, including RP (pericentral, ...

[8] by C Hamel · 2006 · Cited by 1255 — Differential diagnosis. Leber's congenital amaurosis (LCA), which also belongs to the group of pigmentary retinopathies, must be differentiated ...