autosomal dominant keratitis

Autosomal dominant keratitis is a rare ocular disorder that predominantly involves the anterior segment of the eye. It presents with congenital and progressive features, affecting both males and females equally.

The major clinical features of autosomal dominant keratitis include:

• Congenital and progressive features
• Involvement of the anterior segment of the eye
• Redness and irritation of the eyes in early childhood
• Vascularization and inflammation of the anterior corneal stroma
• No associated systemic abnormalities

Autosomal dominant keratitis is caused by heterozygous mutations in the PAX6 gene on chromosome 11p13. This genetic mutation affects ocular morphogenesis, leading to the development of this rare eye disorder.

References:

[1] (Orphanet) - Autosomal dominant keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. [2] (715339004) - Hereditary keratitis is an autosomal dominant disorder caused by heterozygous mutation in the PAX6 gene on chromosome 11p13. [3] (Description) - Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. [4] (Autosomal dominant keratitis) - The primary histopathologic features are vascularization and inflammation of the anterior corneal stroma. [5] (A new, autosomal dominant keratitis is presented) - The onset occurs in early childhood with episodes of red, irritated eyes but not recurrent erosions.

Autosomal dominant keratitis, also known as Keratitis-Ichthyosis-Deafness (KID) syndrome, is a rare genetic disorder that affects the skin, eyes, and hearing. The major clinical symptoms of this condition are:

• Anterior stromal corneal opacification: This refers to the clouding or scarring of the front layer of the cornea, which can affect vision.
• Vascularization of the peripheral cornea: This is the growth of blood vessels on the outer edge of the cornea, which can lead to inflammation and scarring.
• Progression of opacification and vascularization into the central cornea: As the condition progresses, the clouding or scarring can spread to the center of the cornea, leading to a significant reduction in visual acuity.

In addition to these eye-related symptoms, individuals with autosomal dominant keratitis may also experience:

• Skin abnormalities, such as dry, scaly skin (ichthyosis) and thickening of the palms and soles.
• Hearing loss: This can range from mild to severe and is often present at birth.

Other possible symptoms include photophobia (sensitivity to light), pain, tearing, and redness in the eye. These symptoms may occur as early as one year of age and can lead to decreased visual acuity due to corneal neovascularization, ulceration, and scarring.

References:

• [7] Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.
• [8] Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss. Skin abnormalities include thickening of the palms and soles.
• [13] The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity.
• [14] Symptoms include sensitivity to light, excessive tearing, pain, and redness.

Autosomal dominant keratitis, also known as familial corneal amyloidosis, is a rare genetic eye disorder that affects the cornea. Diagnostic tests for this condition are crucial in confirming the diagnosis and ruling out other potential causes.

Diagnostic Tests:

• Sequence analysis of select exons (1)
• Sequence analysis of the entire coding region (42)
• Deletion/duplication analysis (33)

These molecular genetics tests can help identify genetic mutations associated with autosomal dominant keratitis. The results of these tests can confirm the diagnosis and provide information on the genetic basis of the condition.

Sensitivity and Specificity:

MLPA (Molecular Beacon Probe Amplification) has been shown to have greater than 99% sensitivity for detecting deletion and duplication variants in cases where more than one proband is affected in the same area (5). This suggests that MLPA can be a reliable diagnostic tool for autosomal dominant keratitis.

Clinical Genetic Test:

A clinical genetic test offered by Intergen for conditions such as autosomal dominant keratitis includes testing genes like PAX6, which is located on chromosome 11p13 (8). The methodology used in this test may involve various molecular genetics techniques to identify genetic mutations associated with the condition.

References:

• [1] Molecular Genetics Tests
• [5] MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one prob is in the affected area.
• [8] Clinical Genetic Test offered by Intergen for conditions (1): Autosomal dominant keratitis; Testing genes (1): PAX6 (11p13).

Based on the provided context, it appears that there are limited specific details about drug treatment for autosomal dominant keratitis.

However, I can provide some general information about treatments mentioned in the search results:

• Acitretin has shown efficacy in treating corneal neovascularization (search result 2).
• Topical steroids, topical NSAIDs, or oral antihistamine medications are used to treat symptomatic relief for hereditary keratitis (search result 6).

It's essential to note that autosomal dominant keratitis is not explicitly mentioned in the search results. However, based on the information provided, it seems that treatments for other forms of keratitis might be applicable.

If you're looking for specific treatment options for autosomal dominant keratitis, I would recommend consulting a healthcare professional or a medical expert in the field. They can provide more tailored advice and guidance based on the latest research and clinical experience.

Here are some general points to consider:

• Acitretin may have potential benefits in treating corneal neovascularization, but its efficacy for autosomal dominant keratitis is unclear.
• Topical steroids and NSAIDs might be used to manage symptoms of hereditary keratitis, but their effectiveness for autosomal dominant keratitis is unknown.

Please consult a healthcare professional for personalized advice on drug treatment for autosomal dominant keratitis.

Autosomal dominant keratitis, also known as hereditary keratitis, is a rare ocular disorder that presents with congenital and progressive features predominantly involving the anterior segment of the eye.

Possible Differential Diagnoses:

• Anterior uveitis: Inflammation of the iris and ciliary body can be a differential diagnosis for autosomal dominant keratitis.
• Herpes keratitis: A viral infection that causes inflammation of the cornea, which can present similarly to autosomal dominant keratitis.
• Recurrent corneal erosions: A condition characterized by repeated episodes of corneal erosion, which can be a differential diagnosis for autosomal dominant keratitis.

Other Conditions to Consider:

• Keratoendotheliitis Fugax Hereditaria (KFH): A rare genetic disorder that affects the cornea and is inherited in an autosomal dominant pattern.
• Schnyder corneal dystrophy: A rare genetic disorder that affects the cornea and is characterized by a specific type of keratitis.

Genetic Testing: Genetic testing can be used to confirm the diagnosis of autosomal dominant keratitis. However, it's essential to consider other conditions with similar genetic profiles when interpreting test results.

These differential diagnoses are based on information from search results [1-5].