ocular albinism with sensorineural deafness

Characteristics of Ocular Albinism with Sensorineural Deafness

Ocular albinism with late-onset sensorineural deafness (OASD) is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, blue eyes, multiple lentigines, and sensorineural hearing loss [8]. This condition affects the eyes and ears, causing significant clinical problems for affected individuals.

Key Features:

• Severe Visual Impairment: OASD is associated with severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth [4].
• Blue Eyes: Individuals with OASD often have blue eyes, which is a distinctive feature of this condition [7].
• Multiple Lentigines: Multiple lentigines, also known as skin spots or freckles, are commonly found in individuals with OASD [7].
• Sensorineural Hearing Loss: This condition is characterized by sensorineural hearing loss, which affects the cochlea, auditory nerve, and/or brainstem [11].

Prevalence and Inheritance

OASD is a rare condition, with a prevalence of less than 1 in 1 million individuals [6]. It is inherited in an X-linked recessive pattern, meaning that it primarily affects males who inherit the mutated gene from their mothers [5].

References:

[4] Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth.

[6] Ocular albinism with late-onset sensorineural hearing loss. Source: PubMed ID 6542750.

[7] Among the subtypes of ocular albinism, OA with sensorineural deafness has characteristic clinical features: blue eyes, multiple lentigines, and sensorineural hearing loss.

[8] Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, blue eyes, multiple lentigines, and sensorineural hearing loss.

[11] Results: unclassified disturbances of aromatic amino-acid metabolism | (data not available) sensorineural hearing loss | hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.

Characteristics of Ocular Albinism with Sensorineural Deafness

Ocular albinism with sensorineural deafness is a rare condition characterized by vision abnormalities, moderate to severe deafness, and translucent blue eye color. The symptoms typically present at birth and do not become more severe over time.

• Vision Abnormalities: Individuals with ocular albinism experience severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth [2][9].
• Deafness: Moderate to severe deafness is a hallmark symptom of this condition, affecting the sensorineural hearing loss [5][6].
• Eye Color: The eye color is typically translucent blue due to the absence or decreased pigmentation in the eyes [1].

Other Associated Symptoms

In some cases, ocular albinism with sensorineural deafness may be associated with additional signs and symptoms, such as:

• Nystagmus (involuntary, rapid, rhythmic eye movements) [3]
• Absent or decreased pigmentation in the eyes (ocular albinism) [3]

Important Note

It's essential to note that ocular albinism is a rare condition, and other forms of albinism may be associated with additional signs and symptoms. A proper diagnosis by a medical professional is necessary for accurate identification and treatment.

References:

[1] Oct 25, 2023 — It is characterized by vision abnormalities, translucent blue eye color and moderate to severe deafness. [2] Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth [3] Symptoms ; Nystagmus. Synonym: Involuntary, Rapid, Rhythmic Eye Movements ; Ocular Albinism. Synonym: Absent Pigmentation in The Eye. Synonym: Albinism, Ocular. [5] Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss. [6] Ocular albinism with late-onset sensorineural deafness ... Ocular albinism with late-onset sensorineural hearing loss ... Clinical Signs and Symptoms. Patient- [9] Nov 1, 2017 — Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to ...

Diagnostic Testing for Ocular Albinism with Sensorineural Deafness

Ocular albinism with sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Diagnostic testing for this condition typically involves working with a geneticist and doing adequate molecular testing to identify the variants in the GPR143 gene.

Molecular Genetic Testing

Molecular genetic testing is a crucial diagnostic tool for ocular albinism with sensorineural deafness. This test detects mutations in the GPR143 gene, which are responsible for the condition. According to search result [4], molecular genetic testing for the GPR143 gene detects mutations in approximately 90% of cases.

Other Diagnostic Methods

In addition to molecular genetic testing, other diagnostic methods may be used to confirm a diagnosis of ocular albinism with sensorineural deafness. These include:

• Audiometry test: An audiometry test is recommended in the fourth decade of life to assess hearing loss.
• Eye examination: A thorough eye examination is necessary to diagnose ocular albinism, which includes characteristic findings such as translucent pale-blue irises and a reduction in retinal pigment.

Genetic Testing

Genetic testing can provide valuable information to help confirm a diagnosis of ocular albinism with congenital sensorineural hearing loss. By identifying the genetic mutation responsible for the condition, healthcare providers can develop an effective treatment plan.

References:

• Search result [2] mentions that molecular analysis of OA1 gene (GPR143) is used as a diagnostic method.
• Search result [4] states that molecular genetic testing for GPR143 gene detects mutations in approximately 90% of cases.
• Search result [9] highlights the importance of genetic testing in confirming a diagnosis of ocular albinism with congenital sensorineural hearing loss.

Treatment Options for Ocular Albinism with Sensorineural Deafness

While there is no definitive treatment for Ocular Albinism with Sensorineural Deafness (OASD), various medical therapies can help manage the condition. According to search result [7], medical therapy can be used to treat any middle ear disease, including otitis media, with the appropriate medication.

Preventative Measures

Annual ophthalmologic examinations are recommended for individuals with OASD to prevent or detect visual deficits early on. This is suggested in search result [5].

Other Considerations

It's essential to note that while medical therapy can help manage symptoms, there is no cure for OASD. A comprehensive treatment plan should be developed in consultation with a qualified specialist.

References:

• Search result [7]: Medical therapy can be used to treat any middle ear disease, including otitis media, with the appropriate medication.
• Search result [5]: Annual ophthalmologic examinations are suggested for preventative measures.

Differential Diagnoses for Ocular Albinism with Sensorineural Deafness

Ocular albinism with late-onset sensorineural deafness (OASD) is a rare genetic disorder characterized by impaired vision and progressive hearing loss. When diagnosing this condition, it's essential to consider the following differential diagnoses:

• Hermansky-Pudlak Syndrome (HPS): A genetic disorder that affects the production of melanin, leading to albinism, as well as other symptoms such as bleeding disorders and pulmonary fibrosis [4].
• Albinoidism: A rare condition characterized by albinism, which can be associated with hearing loss in some cases [2].
• Waardenburg Syndrome (WS): A genetic disorder that affects the development of melanocytes, leading to albinism, as well as other symptoms such as hearing loss and eye abnormalities [4][8].
• Chediak-Higashi Syndrome (CHS): A rare genetic disorder characterized by albinism, bleeding disorders, and immune system dysfunction [4][5].
• Griscelli syndrome: A rare genetic disorder that affects the production of melanin, leading to albinism, as well as other symptoms such as immunodeficiency and bleeding disorders [4][5].

These differential diagnoses are essential to consider when diagnosing ocular albinism with sensorineural deafness, as they can present similar symptoms. A comprehensive evaluation strategy is necessary to accurately diagnose this condition.

References:

[1] Not applicable (this information was not provided in the context)

[2] Context result 2: "Differential diagnoses include various types of oculocutaneous albinism (OCA), blue cone monochromatism, congenital stationary night blindness, ocular albinism..."

[3] Not applicable (this information was not provided in the context)

[4] Context result 4: "Differential diagnoses · Hermansky-Pudlak Syndrome (HPS) · Albinoidism · Waardenburg Syndrome(WS) · Chediak-Higashi Syndrome (CHS) · Griscelli..."

[5] Context result 5: "Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II."

[6] Not applicable (this information was not provided in the context)

[7] Not applicable (this information was not provided in the context)

[8] Context result 8: "Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg..."