Eye manifestations in Lowe syndrome

This review deals with the causes of the development of the rare genetic disease called Lowe syndrome that affects the eyes, brain and kidneys. It occurs mostly in young boys, with specific intellectual problems. The most common manifestations of the disease are hypotension, delayed motor development, seizures, autistic problems, kidney involvement, joint problems, low growth, etc. The ocular manifestations of Lowe syndrome include cataracts, glaucoma, corneal degeneration, keloids, strabismus. Glaucoma develops in about half of the boys with Lowe syndrome. Permanently elevated eye pressure may cause abnormal enlargement of the baby's eye. Corneal degeneration can also lead to serious visual disturbances that require surgical intervention with implantation of donor cornea. Keloids can lead to loss of vision, drooping, and surgical intervention, although after surgery there is a chance of relapse. For strabismus (squinting), one eye closes in order to train the lazy eye and achieve equal viewing with both eyes. Surgical treatment of the eye muscles is also used to achieve synchronized movements of both eyes.
Symptoms of the syndrome result from a defective enzyme in the body. Boys affected by the disease suffer from health problems throughout their lives and have specific educational needs. Unfortunately, their life expectancy is reduced due to the many complications of the disease.

The Lowe Syndrome is named after Dr. Charles Lowe, who, together with his colleagues, first discovered the disease in 1952. Symptoms observed in the boys examined were renal function abnormalities, bone diseases, intellectual disabilities, and congenital glaucoma. For this reason, Lowe syndrome is also known as ophthalmic-renal syndrome because it affects the eyes, brain and kidneys - a combination of symptoms that occur simultaneously (syndrome).

The most common manifestations of the disease are:

Cataract of both eyes, discovered at birth or shortly thereafter.
Low muscle tone (hypotension) and slow motor development.
Glaucoma (in about 50% of cases).
Intellectual difficulties (border or heavy). In some cases, intellectual development may be normal.
Seizures (about half of the cases).
Significant behavioral problems (in many but not all cases) - Children often have autistic problems.
Affliction of the kidneys (renal tubular acidosis).
Tendency to develop rickets, bone fractures, scoliosis and joint problems.
Low height.
Kidney, brain and skin cysts.
Constipation.
Dental problems.
Life expectancy may be reduced due to progressive renal failure, although death may occur at an early age due to renal insufficiency or other causes.
Ocular signs of Lowe syndrome include congenital cataracts (in 100% of cases), glaucoma (in 50% of cases), corneal degeneration, strabismus and nystagmus. The efficacy of treating these conditions

varies and each of them can cause serious visual impairment. In rare cases where the eye is blind and has severe soreness, a surgical removal of the eye called enucleation is required.