Oliver–McFarlane syndrome
Oliver–McFarlane Syndrome is a rare medical condition characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It was first described by Oliver and McFarlane in 1965.
Symptoms and Signs[edit | edit source]
The most common symptoms of Oliver–McFarlane Syndrome include trichomegaly, or abnormally long eyelashes, severe chorioretinal atrophy, and multiple pituitary hormone deficiencies. Other symptoms may include intellectual disability, dwarfism, and hypogonadism.
Causes[edit | edit source]
Oliver–McFarlane Syndrome is caused by mutations in the PNPLA6 gene. This gene provides instructions for making an enzyme that is found in many tissues throughout the body and plays a role in the metabolism of fats.
Diagnosis[edit | edit source]
Diagnosis of Oliver–McFarlane Syndrome is based on clinical examination and confirmed by genetic testing showing a mutation in the PNPLA6 gene.
Treatment[edit | edit source]
Treatment for Oliver–McFarlane Syndrome is symptomatic and supportive. Hormone replacement therapy may be necessary for those with pituitary hormone deficiencies.
Prognosis[edit | edit source]
The prognosis for individuals with Oliver–McFarlane Syndrome varies. Some individuals may have a normal lifespan with appropriate management of their symptoms, while others may experience significant health challenges.
See Also[edit | edit source]
References[edit | edit source]
Oliver–McFarlane syndrome Resources | ||
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