autosomal recessive pericentral pigmentary retinopathy

Autosomal recessive pericentral pigmentary retinopathy is a rare genetic disorder that affects the retina, leading to pigmentary changes and visual impairment.

Characteristics:

• The condition typically starts in infancy or early childhood.
• It is characterized by the migration of macrophages or retinal pigment epithelial cells into the retina, causing melanin deposition and pigmentary changes.
• The pericentral distribution of the retinopathy means that it primarily affects the central part of the retina.

Clinical Features:

• Mild reduction in amplitude of both scotopic and photopic electroretinographic responses (Source: [4])
• Normal optic disks, maculae, and retinal vessels at birth.
• Gradual progression of visual impairment over time.

Inheritance Pattern:

• Autosomal recessive inheritance pattern, meaning that the condition is caused by a mutation in a gene that is inherited in an autosomal recessive manner.
• The condition is more likely to occur in individuals with consanguineous parents (Source: [5])

**Prevalence and

Autosomal recessive pericentral pigmentary retinopathy (PPR) is a rare form of inherited retinal disorder characterized by the degeneration of photoreceptor cells in the retina. The signs and symptoms of PPR may include:

• Visual loss: Gradual loss of central vision, with patients often experiencing difficulty seeing fine details or reading.
• Night blindness: Difficulty seeing in low light conditions, which can be a symptom from early childhood.
• Color vision deficiency: Patients with PPR may experience poor color vision, particularly in the red and green spectrum.
• Photophobia: Increased sensitivity to light, which can cause discomfort or pain when exposed to bright lights.

It's worth noting that PPR is a rare condition, and its symptoms may vary from person to person. The exact signs and symptoms of PPR can be difficult to diagnose, and a comprehensive eye examination by an ophthalmologist is often necessary for accurate diagnosis.

According to [1], the retinopathy was noted in infancy when siblings were examined for strabismus. The optic disks, maculae, and retinal vessels were normal, but there was mild pigmentary changes in the pericentral retina.

In contrast to other forms of RP, PPR manifestations are unlike most RP forms, despite sharing a similar genetic basis [8].

Autosomal recessive pericentral pigmentary retinopathy (ARPPR) is a rare genetic disorder that affects the retina, and diagnostic tests play a crucial role in its diagnosis. Based on the search results, here are some diagnostic tests associated with ARPPR:

• Fundoscopic examination: A detailed examination of the retina using an ophthalmoscope can help identify characteristic changes such as pigment deposition, which is often associated with ARPPR [1].
• Genetic analysis: Genetic testing can confirm the diagnosis of ARPPR by identifying mutations in specific genes. However, it's essential to note that genetic tests may not be available for all cases [4].
• Retinal imaging: Advanced retinal imaging techniques such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) can help visualize the extent of retinal damage and pigment deposition [6].
• Electrophysiological tests: Tests like electroretinography (ERG) can measure the electrical activity of the retina, which may be affected in ARPPR patients [7].

It's worth noting that a comprehensive diagnostic approach is often necessary to confirm the diagnosis of ARPPR. A detailed patient history, including family medical history and genetic analysis, should also be considered as part of the diagnostic process.

References: [1] - Context result 2 [4] - Context result 4 [6] - Context result 6 [7] - Context result 7

Current Therapeutic Strategies for Autosomal Recessive Pericentral Pigmentary Retinopathy

There are several therapeutic strategies being explored for the treatment of autosomal recessive pericentral pigmentary retinopathy, although no approved treatment exists yet. According to search results [5], currently, there is no therapy that stops the evolution of pigmentary retinopathies or restores vision. However, researchers have identified potential treatments that may help manage the condition.

• Vitamin Supplementation: Treatment with a single vitamin, namely vitamin A, has been shown to be beneficial on average for patients with typical retinitis pigmentosa [9]. Additionally, in patients with abetalipoproteinemia, treatment with vitamin supplementation can reverse ERG abnormalities and improve dark adaptation [10].
• Topical Medications: Topical brinzolamide 1% tid and topical ketorolac have been used to treat associated conditions such as cystoid macular edema (CME) and retinal vascular leakage (RVL), although responses have been inconsistent [4].

It is essential to note that these therapeutic strategies are not specifically approved for autosomal recessive pericentral pigmentary retinopathy, and more research is needed to determine their efficacy in this condition.

References: [5] Hamel C. (2006). Retinitis pigmentosa: a review of the literature [Cited by 1255]. [9] EL BERSON. (Cited by 1). [10] Thenappan A. (2023). Treatment of abetalipoproteinemia with vitamin supplementation [Cited by 3].

Autosomal recessive pericentral pigmentary retinopathy (PRP) can be challenging to diagnose due to its similarity with other retinal dystrophies. However, several conditions need to be ruled out in the differential diagnosis of PRP.

• Leber's Congenital Amaurosis (LCA): This is a severe form of inherited retinal degeneration that affects the rod and cone photoreceptors. LCA can present with similar symptoms as PRP, including night blindness, visual field loss, and pigmentary changes in the retina [7].
• Retinitis Pigmentosa (RP): RP is a group of inherited retinal dystrophies characterized by primary degeneration of rod and cone photoreceptors. While RP can present with pericentral pigmentary changes, it typically involves more widespread retinal degeneration than PRP [5].
• Choroideremia: This is an autosomal recessive disorder that affects the choroid layer of the retina, leading to progressive chorioretinal degeneration. Choroideremia can present with similar symptoms as PRP, including night blindness and visual field loss [3].

To differentiate PRP from these conditions, clinicians need to consider several factors, including:

• Genetic testing: Genetic analysis can help identify the specific mutations responsible for PRP, which can aid in differential diagnosis.
• Imaging studies: Advanced imaging techniques such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) can provide detailed information about the retinal morphology and pigmentary changes.
• Clinical presentation: A thorough clinical evaluation is essential to identify the specific symptoms and signs that are characteristic of PRP.

By considering these factors, clinicians can accurately diagnose autosomal recessive pericentral pigmentary retinopathy and develop an effective treatment plan for affected individuals.

References: [3] Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. [5] Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. [7] Differential diagnosis. Leber's congenital amaurosis (LCA), which also belongs to the group of pigmentary retinopathies, must be differentiated ...