familial retinoblastoma

Familial Retinoblastoma: A Rare Form of Inherited Eye Cancer

Familial retinoblastoma is a rare and aggressive form of eye cancer that affects both eyes, often in children. It is caused by inherited genetic mutations that increase the risk of developing this type of cancer.

• Inheritance: Familial retinoblastoma is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene (RB1) is enough to cause the condition [3].
• Risk: Children with inherited DNA changes tend to get retinoblastoma at a younger age and have it in both eyes [1].
• Complications: In about 10-20% of hereditary retinoblastoma cases, this mutation is passed down from a parent who also had the condition [2].

Key Facts

• Familial retinoblastoma accounts for only a small proportion of all retinoblastoma cases.
• The majority of cases are caused by de novo mutations (new genetic mutations that occur spontaneously).
• Family history is positive in only a small proportion of cases [7].
• Retinoblastoma is a cancer that starts in the retina, the very back part of the eye.

Causes and Risk Factors

Familial retinoblastoma is caused by inherited DNA changes that increase the risk of developing this type of cancer. These genetic mutations can be passed from parents to children, making it a hereditary condition.

• Genetic mutation: The RB1 gene plays a crucial role in regulating cell growth and division. Mutations in this gene can lead to uncontrolled cell growth, resulting in retinoblastoma [4].
• Risk factors: Children with inherited DNA changes are at higher risk of developing retinoblastoma at a younger age and having it in both eyes.

References

[1] Context 1 [2] Context 2 [3] Context 3 [4] Context 5

Familial retinoblastoma, also known as hereditary retinoblastoma, is a rare form of eye cancer that affects children. The signs and symptoms of this condition can be subtle and may not always be immediately apparent. Here are some common indicators:

• White pupil: One of the earliest and most common symptoms of familial retinoblastoma is a white or pale-colored pupil, especially in certain lighting conditions such as flash photos [1][2]. This is often referred to as leukocoria or "cat's eye reflex" [5].
• Eye redness and swelling: The affected eye may appear red, swollen, or inflamed, which can be painful for the child [4][6].
• Vision problems: As the tumor grows, it can cause vision loss or decreased vision in the affected eye [3][7].
• Other systemic symptoms: In some cases, children with familial retinoblastoma may experience other systemic symptoms such as loss of appetite, weight loss, vomiting, headache, and neurologic problems like weakness, numbness, and paralysis [9].

It's essential to note that these symptoms can be similar to those of other eye conditions, so a proper diagnosis by an ophthalmologist or medical professional is crucial for accurate identification and treatment.

References: [1] Context result 1: A white color in the center circle of the eye when light is shone in the eye. [2] Context result 2: A white color to the pupil (the central portion of the eye that is usually black), especially with flash photos [3] Context result 3: The earliest and most common symptom of retinoblastoma is the pupil of your eye appearing white (leukocoria) or pale-colored in certain settings, especially ... [4] Context result 4: a painful, red eye · poor vision · inflammation of tissue surrounding the eye [5] Context result 5: The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. [6] Context result 6: Pain, redness, or swelling of one or both eyes · Trouble seeing · Bulging of the eye [7] Context result 7: Symptoms occurring in later stages of the disease include a painful red eye and loss or decrease of vision in the affected eye. [8] Context result 8: The most common first sign of retinoblastoma is a visible whiteness in the pupil called leukocoria, meaning “white pupil” and sometimes known as “cat's eye ... [9] Context result 9: What are the symptoms of retinoblastoma in a child? · Loss of appetite · Weight loss · Vomiting · Headache · Neurologic problems, such as weakness, numbness, and ...

Diagnostic Tests for Familial Retinoblastoma

Familial retinoblastoma, a form of inherited eye cancer, requires prompt and accurate diagnosis to ensure effective treatment and management. The following diagnostic tests are commonly used to detect and confirm the presence of familial retinoblastoma:

• Imaging tests: These include ultrasound and MRI scans to visualize the eye and surrounding area, helping to determine the size and extent of the tumor [1].
• Genetic testing: This involves analyzing a sample of blood or saliva to identify variations in the DNA that may indicate a genetic predisposition to retinoblastoma [2]. Genetic testing can be performed on individuals with a family history of the disease, as well as those who have already been diagnosed.
• Preimplantation Genetic Diagnosis (PGD): This test is used to detect inherited mutations in embryos created through in vitro fertilization (IVF), allowing parents to make informed decisions about their reproductive choices [3].
• Blood tests: These can be used to rule out other conditions that may be confused with retinoblastoma, such as blood counts and electrolyte determination [4].

Early Detection and Treatment

It is essential to detect familial retinoblastoma at an early stage to prevent vision loss and cancer spread. Regular eye exams, especially for children in families known to carry a genetic mutation, can help identify tumors before symptoms appear [5]. If diagnosed with retinoblastoma, prompt treatment can maximize visual prognosis and survival rate [6].

Additional Resources

For more information on genetic testing for retinoblastoma, consult a specialist called a genetic counselor. The eyeGENE program of the National Eye Institute (NEI) also offers free genetic testing for patients to determine the status of the RB1 gene in the germline [7].

References:

[1] Context 1 [2] Context 2 [3] Context 3 [4] Context 8 [5] Context 14 [6] Context 10 [7] Context 11

Differential Diagnosis of Familial Retinoblastoma

Familial retinoblastoma, a hereditary form of the disease, can be challenging to diagnose due to its similarity with other ocular conditions. The following are some of the key differential diagnoses for familial retinoblastoma:

• Coats Disease: A rare eye disorder characterized by abnormal blood vessels in the retina, leading to vision loss.
• Persistent Fetal Vasculature (PFV): A congenital condition where abnormal blood vessels persist in the eye, causing vision problems.
• Ocular Toxocariasis: An infection caused by a parasitic worm that can affect the eye and cause vision loss.
• Familial Exudative Vitreoretinopathy (FEVR): A rare genetic disorder affecting the retina and vitreous humor, leading to vision loss.
• Congenital Cataract: A birth defect where the lens in the eye is cloudy or opaque, causing vision problems.
• Coloboma: A congenital condition where a hole or gap exists in one of the structures of the eye, such as the iris or retina.

These conditions can present with similar symptoms to familial retinoblastoma, including leukocoria (a white reflex in the pupil), strabismus (crossed eyes), and vision loss. Accurate diagnosis requires a thorough examination by an ophthalmologist and may involve additional tests, such as imaging studies or genetic analysis.

References:

• [3] Heritable retinoblastoma — Heritable (also called hereditary, familial, or germline) retinoblastoma is associated with germline mutations (ie, mutations that occur in reproductive cells [sperm and eggs]) in the retinoblastoma gene.
• [11] Differential diagnoses. The common differentials for retinoblastoma include other causes of leukocoria such as Coats disease, persistent fetal vasculature (PFV), ocular toxocariasis, familial exudative vitreoretinopathy, congenital cataract, coloboma, stage V retinopathy of prematurity, endogenous endophthalmitis, organized VH, and RD.
• [12] Familial retinoblastoma exhibits an autosomal inheritance pattern; if one parent harbors a mutant RB1 allele, ... Retinoblastoma must always be in the differential diagnosis for any child who presents with strabismus, leukocoria, a red eye, or a cellulitis-like picture.