Osteoporosis Pseudoglioma Syndrome (OPPG)

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Description

Osteoporosis Pseudoglioma Syndrome (OPPG) is a rare genetic disorder that affects both bone and eye development. Individuals with OPPG experience brittle bones prone to fractures, along with severe eye problems, particularly pseudoglioma, a condition where the eye fails to develop properly. This blog provides a comprehensive understanding of OPPG, covering its causes, symptoms, diagnosis, management, and how to thrive despite the challenges.

Genes Involved

Genes Involved:

OPPG is caused by mutations in the RMRP gene. This gene provides instructions for making a component of an enzyme called RNase MRP, crucial for cell growth and development. Mutations in RMRP disrupt this process, leading to the bone and eye problems seen in OPPG.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

• Bone Fragility: Individuals with OPPG have extremely brittle bones, often leading to fractures even with minor trauma. This can be present at birth or emerge in early childhood.
• Pseudoglioma: The most prominent eye-related symptom is pseudoglioma, a condition where the eye fails to develop normally, often appearing cloudy or opaque. This can lead to vision loss or blindness.
• Delayed Development: Some individuals with OPPG may experience delayed development in areas such as motor skills or speech.
• Other Potential Symptoms: Additional symptoms may include hearing loss, intellectual disability, and a distinctive facial appearance characterized by a prominent forehead and flattened nasal bridge.

Causes

Causes:

OPPG is a genetic disorder, meaning it is caused by changes in the genes. It is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene for their child to have the disorder. If both parents are carriers, there is a 25% chance their child will inherit the disorder.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

OPPG is inherited in an autosomal recessive pattern. This means both parents must carry the mutated gene for their child to inherit the disorder. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit OPPG.