Okihiro Syndrome is a genetic disorder that affects the development of the eyes and the arms. The name Okihiro is pronounced with four syllables: /oʊkiːhiːroʊ/. The first syllable is pronounced like the word "oak", the second syllable is pronounced like the letter "key", the third syllable is pronounced like the word "hero", and the fourth syllable is pronounced like the letter "oh". This spelling reflects the Japanese origin of the name, as it is a common surname in Japan.
Okihiro Syndrome, also known as Duane-radial ray syndrome or Duane-thumbs syndrome, is a rare congenital disorder that affects multiple systems of the body. This syndrome is characterized by the presence of abnormally limited eye movement, hand and forearm abnormalities, and hearing impairment.
In terms of ocular features, individuals affected by Okihiro Syndrome typically exhibit a condition called Duane Syndrome, which is characterized by restricted eye movement. This is primarily due to the underdevelopment of the sixth cranial nerve, which controls the lateral movement of the eye. Additionally, individuals may experience abnormalities in the size and shape of the optical nerve, leading to various visual impairments.
Aside from ocular manifestations, hand and forearm anomalies are also commonly observed. These anomalies often include abnormalities in the radius bone, leading to conditions such as radial ray defects or triphalangeal thumbs. These hand and forearm malformations can range from mild to severe, and may impact an individual's dexterity and ability to perform fine motor tasks.
Hearing impairment, particularly sensorineural hearing loss, is another prevalent feature of Okihiro Syndrome. The exact cause of this auditory defect is not fully understood. However, it is believed to be associated with a deficiency in the development of the inner ear structures, which are essential for proper hearing function.
Overall, Okihiro Syndrome is a complex congenital disorder that affects the eyes, hands, forearms, and hearing. The severity and specific manifestations of the syndrome can vary widely among individuals, making the diagnosis and management of this condition challenging.
The term "Okihiro Syndrome" is derived from the name of the Japanese-American ophthalmologist, Dr. Melvin P. Okihiro. He first described the condition in 1978 and published a case study on it. The syndrome is characterized by bilateral Duane retraction syndrome (DRS) and radial ray anomalies, which affect the development of the thumb and forearm. As Dr. Okihiro was the first to identify and document this particular combination of symptoms, the syndrome was named after him in his honor.