high myopia-sensorineural deafness syndrome

High myopia-sensorineural deafness syndrome, also known as Deafness and Myopia Syndrome (DFNMYP), is a rare genetic disorder that affects both hearing and vision.

Characteristics:

• Bilateral hearing loss: People with this condition experience moderate to profound sensorineural hearing loss in both ears, which may worsen over time.
• High myopia: The condition is characterized by high myopia, typically ranging from -6.0 to -11.0 diopters.
• Progressive hearing loss: Hearing loss in individuals with a molecularly confirmed diagnosis reported to date has been progressive and severity ranged from moderate to profound.

Genetic basis:

High myopia-sensorineural deafness syndrome is caused by genetic mutations, also known as pathogenic variants. These mutations can be hereditary or occur randomly when cells are dividing. The condition is associated with mutations in specific genes, including MYO7A and USH2A.

Other characteristics:

• Prelingual-onset: Hearing loss typically begins before language development.
• No other systemic manifestations: Affected individuals do not present other systemic ocular or connective tissue manifestations.

References:

[1] - High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. [4] [2] - Deafness and Myopia Syndrome is a rare genetic condition characterized by sensorineural hearing loss and high myopia. It is also known as the Myopia-Sensorineural Deafness Syndrome. This syndrome is associated with mutations in specific genes. Currently, there are two genes that have been identified to cause this condition: MYO7A; USH2A [15] [3] - High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic ocular or connective tissue manifestations. [14] [4] - High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic ocular or connective tissue manifestations. [14] [5] - High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia typically ranging from -6.0 to -11.0 diopters and moderate to profound bilateral progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic ocular or connective tissue manifestations. [14]

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by two primary symptoms:

• High Myopia: Affected individuals typically have high myopia, ranging from -6.0 to -11.0 diopters [4]. This means that they have severe nearsightedness, which can cause difficulty seeing distant objects or reading without corrective lenses.
• Sensorineural Deafness: People with this syndrome experience moderate to profound hearing loss in both ears, which may worsen over time [1][2][3]. The hearing loss is described as sensorineural, meaning it affects the inner ear and can be caused by auditory neuropathy.

It's worth noting that high myopia-sensorineural deafness syndrome does not typically present with other systemic, ocular, or connective tissue manifestations [1].

References: [1] - Context result 1 [2] - Context result 3 [3] - Context result 4

High myopia-sensorineural deafness syndrome, also known as Deafness and Myopia Syndrome (DFNMYP), is a rare genetic disease characterized by high myopia and moderate to profound sensorineural hearing loss. Diagnostic tests for this condition are crucial in confirming the diagnosis.

Diagnostic Tests:

• Genetic testing: Genetic testing can identify mutations in the SLITRK6 gene, which is associated with DFNMYP. This test involves a blood sample (2ml-4ml) drawn in an EDTA/purple-top tube [3].
• Audiological evaluation: Audiological tests, such as pure-tone audiometry and speech audiometry, can assess hearing loss and determine its severity [8].
• Ophthalmologic evaluation: Ophthalmologic examination can help diagnose the syndrome by assessing high myopia [7].
• Visual electrophysiology tests: These tests can detect retinal dystrophies and other visual disorders associated with DFNMYP [9].

Other Diagnostic Tests:

• A 288 gene panel that includes assessment of non-coding variants, as well as the maternally inherited mitochondrial genome, may also be used to diagnose this condition [6].
• Vestibular testing is normal in individuals with a molecularly confirmed diagnosis reported to date [11].

It's essential to note that a negative test result does not rule out a genetic cause of hearing loss or DFNMYP. Other genes are known to be associated with hearing loss, and this test will only detect mutations in the SLITRK6 gene.

References:

[3] - A negative test result does not rule out a genetic cause of hearing loss. [7] - Ophthalmologic evaluation was helpful in diagnosis of a syndrome in 4 patients. [8] - The diagnosis of hereditary hearing loss requires otologic, audiologic, and physical examinations; a family history; ancillary testing (e.g., computed tomography). [9] - Visual electrophysiology tests are used to help diagnose a variety of visual disorders, and are essential for detecting retinal dystrophies. [11] - In individuals with a molecularly confirmed diagnosis reported to date, hearing loss was progressive and severity ranged from moderate to profound. Vestibular testing was normal.

High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and sensorineural deafness.

Treatment Options:

While there are no specific treatments for high myopia-sensorineural deafness syndrome, the following information may be relevant:

• Oral Corticosteroids: The current standard treatment for sudden hearing loss is a tapered course of oral high-dose corticosteroids to increase circulation to the inner ear [8].
• Intratympanic Steroids (ITS): Over the last two decades, ITS have been used as an alternative therapy with variable hearing outcomes [6].

Other Considerations:

It's worth noting that Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss and may also experience visual impairments.

Additionally, CHARGE syndrome is a rare genetic disorder characterized by a specific combination of signs and symptoms described by its acronym CHARGE [9]. However, there is no direct mention of treatment options for high myopia-sensorineural deafness syndrome in the provided context.

Summary:

While specific treatments for high myopia-sensorineural deafness syndrome are not well-documented, oral corticosteroids and intratympanic steroids may be considered as potential therapeutic options. However, further research is needed to determine their efficacy in treating this rare genetic disease.

References:

[6] Mariani C (2023) [2 citations] [8] Olex-Zarychta D (2017) [20 citations] [9] (no direct reference to treatment options for high myopia-sensorineural deafness syndrome)

High myopia-sensorineural deafness syndrome, also known as Deafness and Myopia (DFNMYP) syndrome, is a rare genetic disorder characterized by high myopia and sensorineural hearing loss. When considering the differential diagnosis for this condition, several other conditions should be ruled out.

• Stickler syndrome: This genetic disorder can cause nearsightedness (myopia), but it also involves other systemic manifestations such as eye problems, hearing loss, and facial features that are not typically seen in high myopia-sensorineural deafness syndrome. [8]
• Congenital diaphragmatic hernia: This condition is associated with various complications including sensorineural hearing loss, high myopia, proteinuria, and developmental delay. However, vestibular testing is normal in individuals with this condition, which is not the case for high myopia-sensorineural deafness syndrome. [11]
• Fryns syndrome: This rare genetic disorder can cause congenital diaphragmatic hernia, sensorineural hearing loss, and other systemic manifestations. However, it does not typically involve high myopia or developmental delay as seen in high myopia-sensorineural deafness syndrome. [11]

The first differential diagnosis for high myopia-sensorineural deafness syndrome is Deafness and Myopia (DFNMYP) syndrome, which is caused by biallelic pathogenic variants in the SLITRK6 gene. This condition is characterized by bilateral, congenital or prelingual deafness (sensorineural hearing loss or auditory neuropathy spectrum disorder), and high myopia (> − 6 diopters), without other systemic manifestations. [14]

It's essential to note that a comprehensive evaluation, including genetic testing, is necessary to confirm the diagnosis of high myopia-sensorineural deafness syndrome and rule out other potential causes.

References: [8] [11] [14]