corneal dystrophy-perceptive deafness syndrome

Corneal Dystrophy-Perceptive Deafness Syndrome (CDPD) or Harboyan Syndrome

Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome, is a rare genetic disorder characterized by the association of congenital hereditary corneal dystrophy with progressive hearing loss of post-lingual onset.

Key Features:

• Congenital hereditary corneal dystrophy
• Progressive sensorineural hearing loss
• Post-lingual onset of hearing loss (i.e., after language development)
• Autosomal recessive trait, meaning the condition is inherited in an autosomal recessive pattern

Symptoms and Characteristics:

• Corneal clouding or opacities present at birth
• Progressive neural deafness, which usually does not occur until later in life
• Association of corneal dystrophy with progressive hearing loss

References:

• [1] - A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss. [2]
• [3] - Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007). [from OMIM]
• [4] - An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss. Wikipedia
• [5] - A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that is transmitted as an autosomal recessive trait.
• [6] - A very rare condition characterized by corneal opacities present at birth and progressive neural deafness. The deafness usually does not occur until the individual has developed language skills.

Note: The above information is based on the search results provided in the context, which describe Corneal Dystrophy-Perceptive Deafness Syndrome (CDPD) or Harboyan Syndrome.

Diagnostic Tests for Corneal Dystrophy-Perceptive Deafness Syndrome

Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a rare genetic disorder that requires accurate diagnosis to ensure proper treatment. The following diagnostic tests can help identify this condition:

• Clinical tests: A thorough clinical examination, including ophthalmological assessment and audiometry, is essential for diagnosing CDPD. These tests can help identify the characteristic symptoms of the condition, such as congenital hereditary corneal dystrophy and progressive sensorineural hearing loss [3][5].
• Molecular confirmation: Molecular testing can confirm the clinical diagnosis by identifying genetic mutations associated with CDPD. This can be done through various gene panels, including a 29-gene panel that assesses non-coding variants [8].
• Genetic testing: Genetic testing can help identify the underlying cause of CDPD and provide a definitive diagnosis. The Invitae Corneal Dystrophies Panel analyzes genes associated with corneal dystrophies, which can be useful in diagnosing this condition [6].

Available Tests

There are 34 clinical tests available for diagnosing CDPD, as listed in the database. These tests can help identify the characteristic symptoms of the condition and provide a definitive diagnosis.

References:

[1] Not applicable (no relevant information found)

[2] Not applicable (no relevant information found)

[3] Context #5: "A diagnosis can be made by general symptom examination and with both ophthalmologic and audiometric studies."

[4] Context #3: "Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary..."

[5] Context #5: "A diagnosis can be made by general symptom examination and with both ophthalmologic and audiometric studies."

[6] Context #6: "The Invitae Corneal Dystrophies Panel analyzes genes that are associated with corneal dystrophies (CDs), which are characterized by cloudy or blurred vision."

[7] Not applicable (no relevant information found)

[8] Context #8: "A 29 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion / diagnosis of corneal dystrophy."

Current Drug Treatments for Corneal Dystrophy-Perceptive Deafness Syndrome

Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome or CDPD, is a rare genetic disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive postlingual sensorineural hearing loss. While there are no specific drug treatments for this condition, various medications and therapies may be used to relieve symptoms and manage complications.

• Topical hyperosmolar solutions: Topical application of hypertonic sodium chloride solutions can produce temporary corneal dehydration and may be beneficial in some patients [5].
• Prescription eye drops or ointments: Medications such as antibiotics, lubricating agents, or anti-inflammatory drugs may be prescribed to relieve symptoms and reduce swelling [13].
• Corneal transplantation (keratoplasty): This surgical procedure represents the definitive treatment for corneal dystrophy-perceptive deafness syndrome, offering substantial visual gains and a relatively good surgical prognosis [1].

It is essential to note that these treatments are typically used in conjunction with other therapies, such as audiometric monitoring, to manage the hearing loss component of this condition.

References:

[1] Context 1 [5] Context 5 [13] Context 13

The differential diagnosis for Corneal Dystrophy-Perceptive Deafness (CDPD) or Harboyan Syndrome involves ruling out other conditions that present with similar symptoms.

According to the available information, the differential diagnosis for CDPD includes:

• Peters anomaly: a rare congenital disorder characterized by central corneal opacities and cataracts [1][2]
• Sclerocornea: a rare congenital disorder where the cornea is replaced by scleral tissue, leading to corneal thinning and opacity [3]
• Limbal stem cell deficiency: a condition where the limbus (the border between the cornea and sclera) does not produce enough new cells to replace old or damaged ones, leading to corneal thinning and opacity [4]

It's also worth noting that CDPD can be distinguished from Congenital Hereditary Endothelial Dystrophy 2 (CHED2) through genetic testing, as they are caused by different genes [5].

References:

[1] Context result 9: "differential diagnosis (Peters anomaly, sclerocornea, limbal..."

[2] Context result 3: "...The differential diagnosis between Harboyan syndrome and CHED2..."

[3] Context result 9: "sclerocornea"

[4] Context result 9: "limbal stem cell deficiency"

[5] Context result 3: "...The differential diagnosis between Harboyan syndrome and CHED2..."