What are the other Names for this Condition? (Also known as/Synonyms)

• RODEOS Syndrome
• ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache)
• ROSAH Syndrome

What is Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome? (Definition/Background Information)

• Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) is a rare genetic disorder characterized by a combination of symptoms that affect the eyes, immune system, and nervous system
• It is congenital disorder that is caused by mutations in the ALPK1 gene. ROSAH Syndrome is inherited in an autosomal dominant pattern, and therefore the primary risk factor is a positive family history of the disorder
• The signs and symptoms of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome can vary widely, but include degeneration of the retina, swelling of the optic nerve, enlargement of the spleen, inability to sweat, migraine headaches, seizures, and abnormal muscle tone and weakness
• The diagnosis is made based on clinical symptoms, family history, and genetic testing. The treatment for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome is typically symptomatic and supportive. Management of symptoms may include medications to control seizures, migraine headaches, and muscle weaknesses
• As ROSAH Syndrome is a genetic disorder, currently no preventative measures are available. However, early diagnosis and treatment can help to manage symptoms and prevent complications. The prognosis for individuals with this syndrome is generally poor, and many individuals are known to experience significant disability and have reduced life expectancies

Who gets Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome? (Age and Sex Distribution)

• Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) is a rare disorder with a congenital manifestation (it may occur at birth)
• The disorder affects both males and females
• Worldwide, ROSAH Syndrome may affect individuals of all races and ethnic groups

What are the Risk Factors for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome? (Predisposing Factors)

• The primary risk factor for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) is having a family history of the disorder
• Individuals who have a parent or sibling with the condition have a 50% chance of inheriting the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. 

What are the Causes of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome? (Etiology)

The cause of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) is due to genetic mutations involving the ALPK1 gene. 

• This gene provides instructions for making a protein called Alpha Kinase 1,eak channel, non-selective. The protein which plays a critical role in the function of the nerve cells
• Mutations in this gene lead to dysfunction of the protein, causing the development of ROSAH Syndrome disorder
• ROSAH Syndrome is inherited in an autosomal dominant manner, which means that an individual must inherit one copy of the mutated ALPK1 gene from either of the parent to develop the disorder

Autosomal dominant mode of inheritance: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition, or pass it on to their offspring.

What are the Signs and Symptoms of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome?

The signs and symptoms of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) vary widely from one individual to another, but may include the following:

• Retinal dystrophy and atrophy (degeneration of the retina)
• Optic nerve edema (swelling of the optic nerve)
• Splenomegaly (enlargement of the spleen)
• Anhidrosis (inability to sweat)
• Migraine headaches
• Mild renal and hepatic (kidney and liver) impairment
• Pancytopenia (low red blood cells, white blood cells, and platelets)
• Peg-shaped teeth and dental caries (cavities)

Other possible eye findings include:

• Vision loss, gradual, within the first decade of life
• Optic nerve edema, pallor, and atrophy
• Reduced night vision and color vision
• Macular edema, cystic changes, and degeneration
• Cataracts or subluxation of the lens
• Uveitis - inflammation of the uvea, a part of the eye structure
• Inflammation or hemorrhage in the vitreous or retina

How is Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome Diagnosed?

The diagnosis of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) is typically made based on a combination of the following:

• Clinical examination and assessment of presenting signs and symptoms; the presence of the distinct conditions associated with the syndrome is noted
• Evaluation of family history of the condition
• Medical testing that is necessary to diagnose each of the conditions that comprise the syndrome
• Eye structure and functional examination
• Blood tests
• Imaging studies
• Genetic testing to confirm the presence of a mutation in the ALPK1 gene

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis. 

What are the possible Complications of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome?

Complications of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) can include:

• Vision loss
• Heat intolerance
• Massive splenomegaly requiring surgical splenectomy
• Overall, reduced quality of life

How is Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome Treated?

The treatment of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) is symptomatic and supportive. There is no specific therapy to cure the disorder.

• Management of symptoms may include medications to control migraine headaches, and visual support and training to prepare for possible future blindness
• Immunomodulatory medications can improve some of the syndrome characteristics
• Avoidance of heat stress by remaining indoors in a cool environment
• It may be difficult to arrest progressive eye damages

How can Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome be Prevented?

Presently, it is not possible to prevent Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) as the cause is a combination of genetic and environmental factors.

• Genetic counseling and testing may be recommended for individuals with a family history of the disorder and couples planning to have children
• However, early diagnosis and appropriate treatment can help manage the symptoms and prevent complications

What is the Prognosis of Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome? (Outcomes/Resolutions)

• The prognosis for individuals with Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome (ROSAH Syndrome) is typically unfavorable
• Many individuals with this disorder experience significant disability and have a reduced life expectancy

Additional and Relevant Useful Information for Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, Migraine Headache Syndrome:

The following link is a useful resource for information on other rare conditions on DoveMed:

https://www.dovemed.com/diseases-conditions/rare-disorders/