OCULOCEREBRORENAL SYNDROME Meaning and
Definition
-
Oculocerebrorenal Syndrome, also known as Lowe Syndrome or OCRL syndrome, is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by abnormalities in the eyes, brain, and kidneys. This syndrome is caused by mutations in the OCRL1 gene, which is responsible for producing the enzyme phosphatidylinositol 4,5-bisphosphate 5-phosphatase.
Individuals with Oculocerebrorenal Syndrome typically present with congenital cataracts, which are clouding of the eye lens that can cause visual impairment or blindness if left untreated. They may also exhibit intellectual disability and delayed development due to structural brain abnormalities and reduced myelination.
Kidney involvement in Oculocerebrorenal Syndrome often results in a condition called Fanconi syndrome. This leads to abnormal reabsorption of essential substances, such as amino acids and glucose, in the renal tubules. As a result, individuals may experience increased urination, dehydration, weak growth, and electrolyte imbalances.
Additional features may include muscle weakness, hypotonia, hyperactivity, behavioral problems, and seizures. Ocular manifestations, such as strabismus, nystagmus, and corneal abnormalities, can also be observed.
The diagnosis of Oculocerebrorenal Syndrome is based on clinical evaluation, family history, and genetic testing. Treatment for this condition is mainly supportive and aims to manage symptoms and complications. This may include the use of corrective lenses, physical, occupational, and speech therapy, and medications to address underlying medical issues.
Given its complexity and impact on multiple systems, individuals with Oculocerebrorenal Syndrome may require coordinated care from various specialists, including ophthalmologists, nephrologists, neurolog
Common Misspellings for OCULOCEREBRORENAL SYNDROME
- iculocerebrorenal syndrome
- kculocerebrorenal syndrome
- lculocerebrorenal syndrome
- pculocerebrorenal syndrome
- 0culocerebrorenal syndrome
- 9culocerebrorenal syndrome
- oxulocerebrorenal syndrome
- ovulocerebrorenal syndrome
- ofulocerebrorenal syndrome
- odulocerebrorenal syndrome
- ocylocerebrorenal syndrome
- ochlocerebrorenal syndrome
- ocjlocerebrorenal syndrome
- ocilocerebrorenal syndrome
- oc8locerebrorenal syndrome
- oc7locerebrorenal syndrome
- ocukocerebrorenal syndrome
- ocupocerebrorenal syndrome
- ocuoocerebrorenal syndrome
- oculicerebrorenal syndrome
Etymology of OCULOCEREBRORENAL SYNDROME
The word "Oculocerebrorenal Syndrome" is a medical term that describes a rare genetic disorder that affects multiple body systems. Let's break down the etymology of the word:
1. Oculo-: The prefix "oculo-" comes from the Latin word "oculus", which means "eye". It refers to the involvement or association with the eyes.
2. Cerebro-: The prefix "cerebro-" is derived from the Latin word "cerebrum", meaning "brain". It signifies the involvement or association with the brain.
3. Renal: The term "renal" comes from the Latin word "renes", which refers to the kidneys. It indicates the involvement or association with the kidneys.
4. Syndrome: The word "syndrome" originated from the Greek word "sundromē", which means "a running together".
Infographic
Add the infographic to your website:
