posterior polymorphous corneal dystrophy 3

Posterior polymorphous corneal dystrophy-3 (PPCD3) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells [1, 2]. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and sometimes spread over the iris and nearby structures in a way that increases the risk for complications.

The disease is characterized by primary changes of the posterior corneal layers [3], with a clinical spectrum of presentation including geographical and vesicular changes [4]. PPCD3 is a subtype of posterior polymorphous corneal dystrophy, which is a congenital anomaly of Descemet membrane [5].

Symptoms associated with PPCD3 include decreased vision due to corneal edema [6], and in some cases, the disease may be present from birth or asymptomatic [7]. The condition can be diagnosed clinically, but early-onset disease may be difficult to distinguish from congenital hereditary conditions [8].

Genetic mutations, also known as pathogenic variants, are a primary cause of PPCD3 [9], and mutations in TCF8 have been linked to the development of this condition [10]. The locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 [11].

In summary, PPCD3 is a rare disorder characterized by metaplasia and overgrowth of corneal endothelial cells, leading to changes in the posterior corneal layers and potentially causing complications such as decreased vision. The condition is often associated with genetic mutations, particularly those affecting TCF8.

References: [1] Krafchak et al., 2005 [2] Description from search result 4 [3] Search result 3 [4] Search result 2 [5] Search result 10 [6] Search result 14 [7] Search result 15 [8] Search result 9 [9] Search result 12 [10] Search result 13 [11] Search result 13

Common Signs and Symptoms of Posterior Polymorphous Corneal Dystrophy

Posterior polymorphous corneal dystrophy (PPCD) can manifest in various ways, affecting the eyes' clarity and vision. The following are common signs and symptoms associated with PPCD:

• Blurred Vision: Ocular symptoms of CD can include blurred vision [1], which may be due to the clouding of the posterior cornea.
• Foreign Body Sensation: Patients may experience a foreign body sensation in their eyes, as if something is present but not visible [8].
• Eye Pain: Some individuals may report eye pain or discomfort, although this is not always present.
• Photophobia: Sensitivity to light (photophobia) can occur due to the irritation of the cornea [1][8].
• Lacrimation: Excessive tearing (lacrimation) may be experienced by some patients.
• Decreased Visual Acuity: As the disease progresses, visual acuity can decrease due to stromal clouding [6].

These symptoms can vary in severity and may not always be present. In many cases, PPCD is asymptomatic, with no noticeable signs or symptoms until the disease has progressed significantly.

References: [1] - Context result 8 [6] - Context result 6 [8] - Context result 8

Based on the provided context, it appears that diagnostic tests for posterior polymorphous corneal dystrophy (PPCD) are crucial in confirming the diagnosis and facilitating genetic counseling.

• Clinical Diagnosis: PPCD can be diagnosed clinically, but early-onset disease may be difficult to distinguish from congenital hereditary endothelial dystrophy [3]. A slit lamp examination is often used for clinical diagnosis [5].
• Genetic Testing: Genetic testing can confirm the diagnosis, facilitate genetic counseling, provide accurate advice on prognosis and future family planning, and identify pathogenic ZEB1 sequence variants located in noncoding regions or larger genomic rearrangements [8].

In addition to these tests, diagnostic teams for PPCD may include:

• Genetics
• Ophthalmology

It's worth noting that prenatal testing for PPCD is uncommon, but a positive genetic test result in the index patient can enable a prenatal diagnosis [14].

Treatment Options for Posterior Polymorphous Corneal Dystrophy

Posterior polymorphous corneal dystrophy (PPCD) is a rare and complex eye condition that affects the Descemet membrane and corneal endothelium. While most cases do not require treatment, some individuals may experience symptoms that necessitate medical intervention.

• No specific drug treatment: Most cases of PPCD do not require any treatment, including medication (8). However, in some instances, patients may be prescribed medications to manage symptoms or prevent complications.
• Descemet membrane endothelial keratoplasty (DMEK): This surgical procedure involves transplanting a healthy donor cornea onto the affected eye. DMEK with a stromal rim has been shown to be effective in treating PPCD (4, 9).
• Other treatment options: In some cases, patients may undergo other treatments such as corneal transplantation or laser therapy. However, these procedures are typically reserved for more severe cases of PPCD.

It's essential to note that each individual's situation is unique, and the most effective treatment plan will depend on the specific characteristics of their condition. Consultation with a healthcare professional, preferably an ophthalmologist, is crucial in determining the best course of action for treating posterior polymorphous corneal dystrophy (10).

References: (4) Studeny, P., et al., Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. (8) Aug 8, 2023 — Most cases of posterior polymorphous corneal dystrophy (PPCD) do not require any treatment. In infancy, this condition is easily confused ... (9) by P Liskova · 2013 · Cited by 37 — Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy. (10) Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Any posterior polymorphous corneal dystrophy in which ...

Posterior Polymorphous Corneal Dystrophy (PPCD) Differential Diagnoses

Posterior polymorphous corneal dystrophy (PPCD) is a rare, hereditary condition that affects the cornea. When diagnosing PPCD, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for PPCD:

• Iridocorneal Endothelial Syndrome (ICE): This syndrome can cause similar corneal abnormalities as PPCD, including opacities and edema [3].
• Macular Corneal Dystrophy: This condition also affects the cornea and can be confused with PPCD due to its similar presentation [3].
• Granular Corneal Dystrophy: Another rare corneal dystrophy that may present similarly to PPCD, especially in terms of opacities and edema [3].

Key Points to Consider

When differentiating PPCD from other conditions, consider the following:

• Age of onset: PPCD typically presents in childhood or adolescence, while ICE syndrome often presents later in life [6].
• Corneal abnormalities: PPCD is characterized by opacities and edema at the level of Descemet's membrane and endothelium, whereas ICE syndrome may present with more extensive corneal involvement [8].
• Family history: PPCD is inherited in an autosomal dominant manner, which can be a helpful diagnostic clue [9].

References

[3] - Context 3: Feb 23, 2015 — Differential diagnosis · Tears in Descemet's membrane · Iridocorneal endothelial (ICE) syndrome · Macular corneal dystrophy · Granular corneal ...

[6] - Context 6: by E Fernández-Gutiérrez · 2023 · Cited by 4 — The differential diagnosis of posterior polymorphous corneal dystrophy and iridocorneal endothelial syndrome. PPCD, ICE Syndrome. Etiology ...

[8] - Context 8: Feb 23, 2015 — The corneal abnormality in PPMD occurs at the level of Descemet's membrane and endothelium, and rarely will result in corneal edema and ...

[9] - Context 9: Aug 8, 2023 — PPCD is a rare, hereditary condition passed on in an autosomal dominant manner. Manifestations of this condition are highly variable.