ring dermoid of cornea

Ring Dermoid of Cornea: A Rare Condition

Ring dermoid of cornea, also known as ring dermoid syndrome, is a rare autosomal dominant condition characterized by the presence of bilateral annular limbal dermoids with corneal and conjunctival extension. This means that there are growths with a skin-like structure present on the surface of the eye, specifically around the limbus (the border between the cornea and the sclera), which can extend onto both the cornea and the conjunctiva.

Key Features

• Bilateral annular limbal dermoids: The condition is characterized by growths with a skin-like structure present on both eyes.
• Corneal and conjunctival extension: These growths can extend onto both the cornea (the clear layer on the front of the eye) and the conjunctiva (the outer covering of the globe).
• Autosomal dominant inheritance: The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
• Rare occurrence: Less than 30 cases have been described in medical literature.

Causes and Associations

Mutations in the PITX2 gene on chromosome 4q25 have been suggested as a potential cause of ring dermoid of cornea. This gene plays a crucial role in eye development, and mutations can lead to various ocular abnormalities.

[Citations: 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15]

Signs and Symptoms of Ring Dermoid of Cornea

Ring dermoid of cornea, a rare congenital condition, can manifest in various ways. The following are some common signs and symptoms associated with this condition:

• Cosmetically disfiguring limbal dermoids: Large limbal dermoids can be cosmetically disfiguring [4].
• Corneal and conjunctival extension: Ring dermoid of cornea is characterized by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension [1, 2, 8].
• Staphyloma formation: Staphyloma formation adjacent to dermoids has been reported and may be associated with complications [4].
• Anisometropic amblyopia: Such lesions may lead to development of anisometropic amblyopia, with slow growth resulting in oblique astigmatism and flattening of the cornea [5].
• Irritation and discomfort: The dermoid with lashes may cause constant rubbing of eye leading to symptoms of irritation, watering, discharge, secondary infections and other complications [9].

It's essential to note that these signs and symptoms can vary in severity and presentation from person to person. If you suspect a case of ring dermoid of cornea, it is crucial to consult with an eye care professional for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [8] Context result 8 [9] Context result 9

Diagnostic Tests for Ring Dermoid of Cornea

Ring dermoid of cornea, a rare congenital condition characterized by annular limbal dermoids with corneal and conjunctival extension, can be diagnosed through various diagnostic tests. Here are some of the key tests used to diagnose this condition:

• Clinical Examination: The diagnosis of ring dermoid of cornea is largely clinical, and a thorough examination by an eye specialist (ophthalmologist or optometrist) is essential to confirm the presence of annular limbal dermoids with corneal and conjunctival extension [3][5].
• Histopathology: If surgical removal of the lesion is pursued, histopathology can confirm the diagnosis by examining the tissue under a microscope [11]. However, biopsy is generally not necessary for diagnosis.
• Genetic Testing: Genetic testing may be recommended to identify mutations in the PITX2 gene, which has been associated with ring dermoid of cornea [1][5].
• Imaging Studies: Diagnostic imaging studies such as ultrasound biomicroscopy (UBM), anterior segment OCT, and specular microscopy can help evaluate the extent of the condition and rule out other potential causes [7].

Important Considerations

It's essential to note that a diagnosis of ring dermoid of cornea should only be made by an eye specialist or a qualified healthcare professional. Additionally, genetic testing may require specialized laboratories and expertise.

References:

[1] Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition [2]. [3] Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension [3][5]. [5] The diagnosis of ring dermoid of cornea is largely clinical, and biopsy is generally not necessary [11]. [7] Diagnostic Imaging for Cornea Diseases · Corneal Topography · Ultrasound Biomicroscopy (UBM) · Corneal Pachymetry · Anterior Segment OCT · Specular Microscopy [7]. [11] Liu X, et al. Mutation in PITX2 is associated with ring dermoid of the cornea. Journal of Medical Genetics. 2004;41(12):e129-e129. doi:10.1136/jmg.2004.025111 [11].

Treatment Options for Ring Dermoid of Cornea

Ring dermoid of cornea, a rare condition characterized by annular limbal dermoids with corneal and conjunctival extension, can be challenging to treat. While there is no definitive cure, various treatment options are available to manage the symptoms and improve vision.

• Surgical Excision: Deep lamellar excision followed by mitomycin C (MMC) soaking has been reported as a successful treatment option for ring dermoid of cornea [6]. This procedure involves removing the affected tissue and using MMC to prevent scarring.
• Fibrin Glue-Assisted Augmented Amniotic Membrane Transplantation: This technique, which involves transplanting amniotic membrane onto the affected area, has been shown to be effective in treating large non-infectious corneal perforations [7].
• Other Treatment Options: In some cases, treatment may involve managing symptoms such as progressive vision loss and astigmatism. Corneal distortion can result in significant astigmatism, which may require corrective lenses or other interventions.

It's essential to note that each case of ring dermoid of cornea is unique, and the most effective treatment approach will depend on individual circumstances. Patients should consult with an eye specialist or a qualified medical professional for personalized guidance and care [10].

References:

[6] WH Cho (2018) - Deep lamellar excision followed by mitomycin C soaking for ring dermoid of cornea. [7] Fibrin glue-assisted augmented amniotic membrane transplantation for the treatment of large non-infectious corneal perforations. Cornea. 2009;28:170–176. 33. [10] Orphanet (2024) - Ring dermoid of cornea.

Differential Diagnosis of Ring Dermoid of Cornea

Ring dermoid of the cornea, also known as ring dermoid or ring-shaped dermoid, is a rare congenital anomaly characterized by a ring-shaped or annular lesion on the cornea. The differential diagnosis for this condition includes several other ocular and systemic anomalies.

Possible Differential Diagnoses:

• Peters Anomaly: A rare congenital disorder characterized by central corneal opacity with a relatively clear peripheral cornea [6].
• Goldenhar Syndrome (GS): A rare genetic disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system abnormalities [7].
• PITX2-Associated Disorders: Mutations in the PITX2 gene have been associated with ring dermoid of the cornea, as well as other ocular anomalies such as Peters anomaly and iris hypoplasia/iridogoniodysgenesis syndrome [8][9].

Other Considerations:

• Subconjunctival Herniated Orbital Dermoid: A rare condition characterized by a herniation of orbital tissue through the conjunctiva, which can present with similar symptoms to ring dermoid of the cornea [2].
• Sclerocornea and Tears in Descemet Membrane: These conditions are part of the differential diagnosis for congenital corneal opacities, as remembered by the mnemonic STUMPED [4].

References:

[1] - Common presenting complaints include decreased vision, foreign body sensation, cosmetic disfigurement, and enlarging ocular mass. [2] - The differential diagnosis included subconjunctival herniated orbital dermoid. Mutation in PITX2 is associated with ring dermoid of the cornea. [4] -