retinitis pigmentosa with or without situs inversus

Retinitis Pigmentosa (RP) with or without Situs Inversus: A Rare Condition

Retinitis pigmentosa with or without situs inversus, also known as RP82, is a rare autosomal recessive form of retinal degeneration. This condition affects the retina's ability to function properly, leading to impaired vision and eventual blindness.

Key Characteristics:

• Initial loss of rod photoreceptors: The disease begins with the loss of rod photoreceptors in the retina, resulting in impaired night vision.
• Progressive visual-field constriction: As both rod and cone photoreceptors die, the visual field constricts, leading to a gradual loss of peripheral and central vision.
• Retinal pigment deposits: The condition is characterized by retinal pigment deposits visible on fundus examination.

Association with Situs Inversus:

Some individuals with RP82 may also have situs inversus, a rare congenital disorder where the internal organs are reversed or mirrored from their normal positions. This association was reported in studies [3][7][11].

Genetic Basis:

The disease is caused by mutations in the ARL2BP gene, which plays a crucial role in retinal development and function [5][9]. The genetic basis of RP82 with situs inversus is not fully understood, but research suggests that it may be related to the same genetic mutation.

References:

• Davidson et al. (2013) - Study on the association between RP82 and situs inversus.
• Audo et al. (2017) - Research on the genetic basis of RP82 with situs inversus.
• Rat Genome Database (Ontology Report) - Information on retinitis pigmentosa with or without situs inversus.

Note: The information provided is based on the search results and may not be an exhaustive summary of the condition.

Common Signs and Symptoms of Retinitis Pigmentosa (RP) with or without Situs Inversus

Retinitis pigmentosa-82 with or without situs inversus (RP82) is a rare genetic disorder that affects the retina, leading to progressive vision loss. The initial symptoms of RP include:

• Night blindness: Difficulty seeing in low light conditions, which can start as early as childhood [3].
• Tunnel vision: A narrowing of peripheral vision, making it difficult to see objects outside of a central point [5].
• Central vision loss: Gradual loss of central vision, affecting the ability to read, watch TV, or perform daily activities [5].

Other symptoms may include:

• Loss of rod photoreceptor cells: The condition is characterized by retinal pigment deposits and loss of rod photoreceptor cells in the retina [5].
• Retinal pigment deposits: Abnormal pigmentation in the retina, which can be visible during an eye examination [5].

It's essential to note that the symptoms of RP82 may vary from person to person, and some individuals may experience more severe vision loss than others.

References:

[1] Not applicable (context provided)

[2] Not applicable (context provided)

[3] SK Verbakel. "Retinitis pigmentosa-82 with or without situs inversus." [4]

[5] Various sources in the context block

Diagnostic Tests for Retinitis Pigmentosa with or without Situs Inversus

Retinitis pigmentosa (RP) is a group of genetic disorders that affect the retina, leading to progressive vision loss. When RP occurs with situs inversus, it can be more challenging to diagnose. Here are some diagnostic tests that may be used to identify retinitis pigmentosa with or without situs inversus:

• Genetic Testing: Genetic testing is a crucial step in diagnosing RP and its variants, including those associated with situs inversus. This test can detect mutations in the ARL2BP gene, which is linked to RP with or without situs inversus [1][3].
• Clinical Genetic Tests: Clinical genetic tests, such as those offered by PreventionGenetics, may also be used to diagnose RP and its variants, including retinitis pigmentosa 19 and Bardet-Biedl syndrome [3].
• Mitochondrial Genome Analysis: Some diagnostic tests, like the one mentioned in search result 2, include mitochondrial genome analysis. This test can help identify genetic mutations that contribute to RP with or without situs inversus.
• PGxome Backbone Tests: PGxome backbone tests may also be used to diagnose retinitis pigmentosa with or without situs inversus [4].

It's essential to note that a definitive diagnosis of retinitis pigmentosa with or without situs inversus can only be made through comprehensive genetic testing and clinical evaluation.

References:

[1] Search result 1: Clinical resource with information about Retinitis pigmentosa with or without situs inversus and its clinical features, ARL2BP. [2] Search result 2: Nov 13, 2023 — Is ideal for patients with a clinical suspicion /diagnosis of isolated retinitis pigmentosa. Also includes mitochondrial genome analysis. [3] Search result 3: Clinical Genetic Test offered by PreventionGenetics, part of Exact Sciences for conditions (91): Retinitis pigmentosa 19; Bardet-Biedl syndrome 20; [4] Search result 4: Note: acceptable specimen types are whole blood and DNA from whole blood only. ... PGxome backbone tests

Retinitis Pigmentosa (RP) is a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors [5]. While there is no cure for RP, various treatment options are being explored to slow down disease progression.

In terms of drug treatment, recent progress in understanding disease mechanisms has led to promising therapeutic strategies for Inherited Retinal Diseases (IRDs), including RP [4]. Gene therapy, for instance, has shown potential in treating IRDs by replacing or repairing faulty genes that cause the disease.

Specifically, a clinical case study published in 2024 reported on a patient with syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene, which also presented with situs inversus [9]. However, this report does not provide information on drug treatment for RP with or without situs inversus.

Another study published in 2020 explored the efficacy of QR-421a-induced exon skipping as a treatment for RP caused by mutations in exon 13 of the USH2A gene [6]. The results showed that QR-421a-induced exon skipping was a highly promising treatment for this specific form of RP. However, it is unclear whether this treatment would be effective for RP with or without situs inversus.

It's worth noting that while these studies provide some insights into potential drug treatments for RP, more research is needed to fully understand the effectiveness and safety of these therapies, especially in cases where RP is associated with other conditions like situs inversus [9].

References: [4] Sahel JA. (2015) - But recent progress in understanding disease mechanisms has led to promising therapeutic strategies for IRDs (e.g., gene therapy). ROD–CONE DYSTROPHY. [5] Verbakel SK. (2018) - Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. [6] (2020) - In conclusion, QR-421a-induced exon skipping proves to be a highly promising treatment for RP caused by mutations in exon 13 of the USH2A gene. [9] Placidi G. (2024) - This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, ...

Retinitis Pigmentosa (RP) with or without situs inversus, also known