Phakomatoses and Their Impact on the Eyes

Posted on Jun 23, 2023

Phakomatoses are a group of rare congenital diseases that affect a developing embryo during its development stage. Phakomatoses involve the brain, the skin, and the eyes simultaneously, unlike diseases that occur after development. All phakomatoses are characterized by faulty neural ectodermal development resulting in a unique set of symptoms that affect the visual system, nervous system, and skin. The article will look at some of the most common Phakomatoses.


Sturge-Weber Syndrome

Sturge-Weber Syndrome occurs in 1 out of every 20,000 people. It presents with a port-wine-colored patch of skin that typically covers the eye. The biggest problem with Sturge-Weber Syndrome is seizures that may or may not be associated with tumors. Patients may also display cavernous choroidal hemangioma, which is a malformation in one or both eyes. Though the condition rarely requires treatment, surgical intervention may be necessary to manage uncontrollable seizures.


Von Hippel Lindau Syndrome

Von Hippel Lindau Syndrome occurs in 1 out of every 36,000 people. The condition affects the adrenal gland, which results in the development of tumors known as adrenal pheochromocytomas. The brain and eye involvement results in tumors known as capillary hemangiomas. These hemangiomas develop in the eyes, cerebellum, or brain stem. Patients may experience high blood pressure, hearing loss, or loss of balance. Management of this condition requires medication or surgery if the condition becomes complicated.


Wyburn Mason Syndrome

Wyburn Mason Syndrome is not like the other phakomatoses mentioned, as skin tissue is not involved. The condition is characterized by blood vessel malformations called racemose hemangiomas that affect the eyes, resulting in vision impairment. It can lead to seizures and paralysis if they rupture in the brain. Surgery may thus be necessary to manage Wyburn Mason Syndrome.


Tuberous Sclerosis

Tuberous Sclerosis is a phakomatosis that affects an estimated 1 in 6,000 people. The condition affects the skin, brain, and eyes. Patients may develop angiofibroma, which are multiple red skin nodules that appear on the face and body. The condition may lead to hydrocephalus (water in the skull) and behavioral changes. Surgery and medication may be indicated to manage the disease and its complications.


Neurofibromatosis Type 1 and 2

Finally, Neurofibromatosis, which comes in two forms, exhibits similar characteristics to phakomatoses. Patients experience the development of multiple skin tumors called neurofibromas across the body and face. The condition may also cause gliomas, astrocytic hamartomas, or meningiomas in the brain and eyes. Treatment may require regular exams and the surgical removal of the tumor.


Treatment for Phakomatoses

Patients with any of the phakomatoses mentioned above require regular monitoring by medical professionals to manage the conditions and complications that come with them. They should visit a primary care doctor, neurologist, and an optometrist regularly. If symptoms arise, immediate medical attention is essential.

Any time there is an underlying condition that can lead to an eye problem, regular eye exams are an important aspect of the treatment regimen and should be coordinated between all types of care providers.


Our eye doctors at Eye Theory in Houston, TX excel in the prescription of contact lenses, glasses, and various eye diseases.  Call our optometrist at 832.831.7386 or schedule an appointment online if you would like to learn more about phakomatoses. Our eye doctor, Dr. Jonathan Tsao, provides the highest quality optometry services and eye exams in the Midtown, Downtown, Museum District, Montrose, East Downtown, and Southside Commons (Southside Place) vicinities of Houston, Texas as well as our newest location in the Stone Oaks neighborhood of San Antonio, Texas.

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