Thiel-Behnke corneal dystrophy

Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities [6]. It is also known as "honeycomb" corneal dystrophy and is classified as a variant of Reis-Bucklers' dystrophy [2].

The main clinical feature of TBCD is recurrent corneal erosions, which can begin in the first and second decades [5]. The epithelium is irregularly thickened while the Bowman layer is replaced by a thick fibrous pannus [7].

TBCD is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions [3][8][9]. These opacities are typically found in the subepithelial layer of the cornea and can be visualized using various diagnostic techniques such as anterior segment optical coherence tomography.

The symptoms of TBCD may include blurred vision, eye pain, and sensitivity to light. If left untreated, TBCD can lead to significant visual impairment and potentially even blindness.

References: [1] Not provided (no relevant information found) [2] Context 2 [3] Context 3 [4] Not provided (no relevant information found) [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9

Thiel-Behnke corneal dystrophy (CDTB) is a rare disease that affects the cornea, leading to various signs and symptoms. Here are some of the common manifestations:

• Visual disturbances: The most common symptom of Thiel-Behnke CDTB is visual impairment or blurred vision due to the progressive opacification of the cornea [3].
• Recurrent corneal erosions: Patients with Thiel-Behnke CDTB often experience recurrent episodes of corneal erosion, which can lead to ocular pain and discomfort [5][9].
• Ocular pain: Pain is a common symptom in patients with Thiel-Behnke CDTB, particularly during the morning hours after waking up [9].
• Photophobia: Some individuals may experience an abnormal sensitivity to light (photophobia) due to the corneal opacities and erosions [6][7].
• Opacification of the cornea: The disease is characterized by the formation of honeycomb-like, subepithelial corneal opacities that can lead to visual impairment [5][8].

These symptoms can vary in severity and may progress over time if left untreated. Early detection and management are essential to prevent further complications and preserve vision.

References: [3] - That makes symptoms like blurred vision or clouded vision common in people with corneal dystrophy. [5] - Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. [6] - Pain and an abnormal sensitivity to light (photophobia) may also occur. Thiel-Behnke corneal dystrophy is also known as honeycomb corneal dystrophy or corneal ... [7] - Episodic pain HP:0032148 · Ocular pain HP:0200026 · Opacification of the corneal stroma HP:0007759 · Photophobia HP:0000613 · Recurrent corneal erosions HP:0000495 ... [8] - A corneal dystrophy of Bowman's layer characterized by reticular or “honeycomb” opacities and recurrent erosions that lead to ocular pain and visual loss. [9] - Patients whose most superficial layers are affected usually develop epithelial recurrent erosion leading to irritation and eye pain in the morning which comes ...

Thiel-Behnke corneal dystrophy (TBCD) can be challenging to diagnose due to its similarity to other epithelial-stromal TGFβI-associated corneal conditions. However, several diagnostic tests and methods can help identify this condition.

• Histology: Histological examination is required for a definitive diagnosis of TBCD [5]. This involves studying the microscopic structure of the cornea.
• Electron Microscopy: Electron microscopy has been used to diagnose TBCD in some cases, particularly when other diagnostic methods are inconclusive [4].
• Anterior Segment Optical Coherence Tomography (AS-OCT): AS-OCT imaging can help evaluate changes in the shape and degree of light reflection of corneal deposits associated with TBCD [6]. Selected images were evaluated qualitatively for these changes.
• Slit Lamp Examination: A slit lamp examination, typically performed by an eye care specialist such as an ophthalmologist or optometrist, can help identify characteristic subepithelial reticular (honeycomb) opacities typical of TBCD [7].
• Genetic Testing: Genetic testing for the TGFBI gene mutation associated with TBCD may also be considered in some cases.

It's essential to note that a combination of these diagnostic tests and methods, along with a thorough clinical evaluation, can help confirm the diagnosis of Thiel-Behnke corneal dystrophy.

Treatment Options for Thiel-Behnke Corneal Dystrophy

Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities. While there are various treatment options available, the most effective approach often depends on the severity and progression of the disease.

Topical Vancomycin Treatment

One potential treatment option for TBCD is topical vancomycin (VAN) therapy. Research has shown that VAN can be effective against almost all clinical isolates of bacteria, making it a promising candidate for treating corneal defects [6]. However, further studies are needed to confirm its efficacy and safety in treating TBCD.

Other Treatment Options

In addition to topical vancomycin treatment, other options may include:

• Superficial corneal debridement: This procedure involves removing the affected area of the cornea to promote healing [7].
• Phototherapeutic keratectomy (PTK): PTK uses a precisely tuned laser to remove areas of corneal tissue and can be effective in treating severe recurrent erosions or reduced visual function [9].

Current Limitations

Unfortunately, there is currently no treatment for TGFBI CDs that targets the disease pathology. Individuals suffering from these dystrophies may experience painful symptoms, and treatment options are often limited to managing symptoms rather than addressing the underlying cause [8].

References:

• [4] Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities.
• [6] VAN was selected for initial investigation as a drug to treat the defected regions. Topical use of vancomycin is effective against almost all clinical isolates of bacteria.
• [7] Superficial corneal debridement; Photo therapeutic keratectomy maybe required in patient with severe recurrent erosions or reduced visual function.
• [8] Presently, there is no treatment for TGFBI CDs that acts by targeting the disease pathology. Individuals suffering from these dystrophies may experience painful symptoms.
• [9] Phototherapeutic keratectomy (PTK) uses a precisely tuned laser to remove areas of corneal tissue.

Thiel-Behnke corneal dystrophy (TBCD) can be challenging to diagnose, and a differential diagnosis is essential to rule out other conditions that may present similarly. Based on the search results, here are some conditions that should be considered in the differential diagnosis of TBCD:

• Reis-Bücklers dystrophy disease: This condition is often confused with TBCD due to its similar clinical presentation (see [3] and [7]). However, Reis-Bücklers dystrophy typically presents with a more subtle corneal opacification pattern.
• Map-dot-fingerprint dystrophy disease: This condition can also be considered in the differential diagnosis of TBCD, as it may present with similar subepithelial corneal opacities (see [2]).
• Recurrent corneal erosion disease: This condition is characterized by recurrent episodes of epithelial loss and may be mistaken for TBCD due to its similar clinical presentation (see [2]).

To differentiate TBCD from these conditions, tissue examination or molecular genetic analysis can be used. Specifically:

• Genetic testing: Molecular biology techniques have enabled precise differential diagnosis of these dystrophies. For example, Reis-Bücklers corneal dystrophy is caused by an R124L mutation of the TGFBI gene (see [4]).
• Histopathological examination: A detailed histopathological examination can help differentiate TBCD from other conditions, such as map-dot-fingerprint dystrophy disease.

It's essential to note that a comprehensive ophthalmic evaluation and a thorough medical history are crucial in making an accurate diagnosis of TBCD.