Peters anomaly

Peters Anomaly: A Rare Eye Malformation

Peters anomaly is a rare congenital eye malformation that affects the anterior segment of the eyeball, leading to corneal opacity and other associated problems.

• Corneal Opacity: The most common symptom of Peters anomaly is the presence of an opaque area in the cornea, which can cause blurred vision and other visual disturbances [1][2].
• Iridolenticular Corneal Adhesions: In some cases, the iris may become attached to the lens or cornea, leading to further complications [3][6].
• Congenital Defect: Peters anomaly is a congenital defect that occurs during embryonic development, resulting in improper formation of the anterior segment [4][7].

Characteristics and Causes

Peters anomaly is often bilateral, meaning it affects both eyes, and has a sporadic inheritance pattern. The exact cause of the condition is not well understood, but it is believed to be related to genetic factors [5].

• Genetic Condition: Peters anomaly is considered a genetic condition that results from improper development of the anterior segment during embryonic development [8].
• Rare Eye Malformation: Peters anomaly is a rare eye malformation that affects a small number of people worldwide.

References

[1] Oct 30, 2024 — Peters anomaly is one disease in a constellation of diseases that causes corneal opacity due to dysgenesis of the anterior segment during development. [2] Jan 1, 2014 — Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. [3] Peters anomaly is a disorder of the eye which involves thinning and clouding of the cornea and attachment of the iris to the cornea, which causes blurred ... [4] by P Anomaly — Peters anomaly is a rare eye malformation resulting in congenital corneal opacity and is part of a spectrum of developmental anomalies of the cornea, iris and ... [5] by A Khasnavis · 2023 · Cited by 3 — Peters anomaly (PA) is a rare, often bilateral, congenital corneal opacity, usually with a sporadic inheritance pattern, characterized by corneal opacities ... [6] Peters anomaly is a congenital malformation of the anterior chamber of the eye resulting in corneal clouding and variable iridolenticular corneal adhesions. [7] Peters anomaly is a congenital defect in the embyonic development of the anterior segment of the eyeball, causing patients to be born with an opaque area in ... [8] Peters anomaly (PA) is a genetic condition that results in the clouding of the cornea due to improper development of the anterior segment.

Peters anomaly is characterized by several signs and symptoms that can affect the eye. Here are some of the key features:

• Central corneal leukoma: A defect in Descemet's membrane, which is a layer of tissue on the back of the cornea, leading to a central corneal opacity [7].
• Iris adhesions: Adherence between the iris and the cornea, which can cause the iris to stick to the cornea [7].
• Congenital central corneal opacity: A clear area in the center of the cornea with surrounding clear cornea, iridocorneal and/or keratolenticular adhesions [8].
• Central corneal opacity: A cloudy or opaque area in the center of the cornea that can obstruct vision [9].

These signs and symptoms can occur in one or both eyes and are typically present at birth. In some cases, they may not be immediately apparent, but can become more noticeable as the child grows and develops.

It's worth noting that Peters anomaly is a congenital error in the development of the eye, which means it occurs during fetal development between 10 and 16 weeks of gestation [4]. This can affect the normal formation of the anterior segment of the eye, leading to these characteristic signs and symptoms.

Peters anomaly, also known as congenital corneal opacity, can be diagnosed through various diagnostic tests.

• Clinical diagnosis: Peters anomaly can be clinically diagnosed by an ophthalmologist, typically after birth [6][7]. The condition is characterized by a white spot in the center of the cornea.
• Genetic testing: Genetic testing may be undertaken to obtain a molecular diagnosis, which can help confirm the presence of Peters plus syndrome (PPS) [3].
• Specular microscopy: Specular microscopy may be used to assess the presence and structure of corneal layers in individuals with Peters anomaly [2].
• Anterior segment imaging: Advances in anterior segment imaging have improved diagnostic accuracy, allowing for high-resolution ultrasound biomicroscopy (UBM) and anterior segment OCT (asOCT) to visualize the condition more clearly [9].

These diagnostic tests can help identify Peters anomaly and provide a comprehensive understanding of the condition.

Peters anomaly is a congenital malformation of the anterior chamber of the eye resulting in corneal clouding and variable iridolenticular corneal adhesions [8]. While there is no cure for Peters anomaly, various treatments can help manage its symptoms.

Medical therapy is often the first-line treatment for Peters anomaly. Topical beta-blockers, carbonic anhydrase inhibitors (CAI), and prostaglandin analogs can be used to reduce intraocular pressure and prevent further complications [7].

In some cases, surgical interventions may be necessary to treat Peters anomaly. Penetrating keratoplasty is a surgical procedure that involves replacing the damaged cornea with a healthy donor cornea [4]. This surgery can help restore vision in individuals with severe corneal opacification.

Additionally, other treatments such as topical timolol maleate therapy may be used to control intraocular pressure. However, this treatment was not effective in reducing intraocular pressure in one patient diagnosed with Peters' anomaly type I and secondary childhood glaucoma [3].

It's worth noting that the effectiveness of these treatments can vary depending on the individual case and the severity of the condition.

References: [4] by B Wowra · 2024 · Cited by 1 [7] Jul 27, 2020 [8] [3] by E Imelda · 2021

Peters anomaly is a rare congenital disorder characterized by a central or paracentral corneal leukoma (scar) with iris adhesions to the posterior surface of the cornea [6]. The differential diagnosis for Peters anomaly includes several conditions that can present with similar clinical signs.

Conditions to Consider:

• Primary congenital glaucoma: This condition is often associated with increased pressure within the eye and can be a differential diagnosis for Peters anomaly [2].
• Congenital hereditary endothelial dystrophy (CHED): CHED is a rare genetic disorder that affects the corneal endothelium, leading to corneal edema and vision loss. It can be a differential diagnosis for Peters anomaly due to its similar clinical presentation [3][9].
• Birth trauma: Trauma at birth can cause corneal damage and lead to conditions such as corneal opacity or leukoma, which can be mistaken for Peters anomaly.
• Mucopolysaccharidoses: These are a group of rare genetic disorders that affect the body's ability to break down and recycle sugar molecules. They can cause a range of symptoms, including corneal clouding and vision loss.

Genetic Factors:

Peters anomaly is often associated with genetic mutations, which may be inherited from one or both parents [7]. The condition is thought to be related to mutations in several genes, although the exact genetic mechanisms are not yet fully understood.

Diagnostic Possibilities:

In addition to Peters anomaly, other conditions that should be considered in the differential diagnosis include:

• Cataract
• Retinoblastoma
• Coats' disease (an exudative retinal detachment)

It's essential to note that a comprehensive evaluation by an ophthalmologist is necessary to accurately diagnose and differentiate these conditions.

References: [2] - Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), or retinal detachment [2]. [3] - The traditional differential diagnosis for congenital corneal opacity included sclerocornea, trauma, ulcer, mucopolysaccharides, anomaly, congenital hereditary endothelial dystrophy (CHED) [9]. [6] - The essential clinical signs are a central or paracentral corneal scar (leukoma) with iris adhesions to the posterior surface (Type I) [6]. [7] - Experts believe that Peters anomaly is related to mutations in several genes, which may be inherited from one or both parents [7].