In Lowe syndrome, all of the following are seen except: September 2007
**Core Concept**
Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder characterized by ocular, cerebral, and renal abnormalities. It is caused by mutations in the OCRL1 gene, which encodes a phosphatase involved in the regulation of phosphoinositide metabolism.
**Why the Correct Answer is Right**
The correct answer is related to the clinical features of Lowe syndrome. The syndrome is characterized by congenital cataracts, glaucoma, and microphthalmia, which are all related to the development of the eyes. Additionally, individuals with Lowe syndrome often have intellectual disability and seizures, which are due to the cerebral abnormalities. Renal abnormalities, such as kidney stones and impaired renal function, are also common in Lowe syndrome.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because congenital cataracts are a hallmark feature of Lowe syndrome. Cataracts are a common cause of vision loss in individuals with this condition.
* **Option B:** This option is incorrect because intellectual disability is a common feature of Lowe syndrome. Individuals with this condition often have significant cognitive impairment.
* **Option C:** This option is incorrect because renal abnormalities are a common feature of Lowe syndrome. Individuals with this condition often develop kidney stones and impaired renal function.
**Clinical Pearl / High-Yield Fact**
One key feature of Lowe syndrome is the presence of congenital cataracts, which can lead to vision loss and blindness if left untreated. Early diagnosis and treatment are essential to prevent long-term complications.
**Correct Answer: A. Cataracts are a hallmark feature of Lowe syndrome.**