brittle cornea syndrome 2

Brittle cornea syndrome 2 is a connective tissue disorder that primarily affects the eyes and musculoskeletal system, manifesting with fragile, thin corneas and a range of supportive features such as blue sclerae and hearing impairment. The condition arises from mutations in the PRDM5 gene, which is involved in collagen regulation and extracellular matrix integrity. It is inherited in an autosomal recessive manner, meaning that affected individuals inherit two mutated copies of the gene, one from each parent. Precise prevalence estimates are not well established, and the condition is considered to be uncommon.

Individuals with brittle cornea syndrome 2 consistently present with distinctive ocular features including blue sclerae and decreased corneal thickness, which are invariably observed. Hearing impairment is also universally present, while additional eye-related issues such as keratoconus, corneal perforation, keratoglobus, flat cornea, and sclerocornea may develop over time. Musculoskeletal manifestations include joint hypermobility as a constant finding, with a subset of individuals experiencing myopia, myalgia, recurrent fractures, gait disturbances, and a predisposition to bruising, inguinal hernia, or umbilical hernia. Not all individuals experience all features, and severity varies considerably.

Brittle cornea syndrome 2 is caused by mutations in the PRDM5 gene, which plays a crucial role in the regulation of collagen and the structural integrity of connective tissues. The disruption of this gene affects the normal formation and maintenance of the cornea as well as other supportive tissues. The condition is inherited in an autosomal recessive pattern, meaning that an affected individual receives two copies of the mutated gene, one from each carrier parent. This inheritance pattern implies that siblings of an affected individual have a one in four chance of being similarly affected, even in families where a history of the condition might not be apparent.

Currently, management of brittle cornea syndrome 2 focuses on supportive care and symptom management, as there are no specific therapies approved for this condition. Treatment is individualized and typically involves a multidisciplinary team that may include ophthalmologists, audiologists, and musculoskeletal specialists to provide ongoing surveillance and address emerging complications. Regular surveillance is an essential part of long-term care, helping to identify and address potential issues, such as progressive corneal thinning or hearing changes, before they become more serious. Additionally, genetic counseling is recommended to help families understand the inheritance pattern and implications for family planning, and patients should discuss treatment options with their healthcare team to determine the most appropriate strategies for their situation.

The outlook for individuals with brittle cornea syndrome 2 varies, with outcomes depending on symptom severity, age at diagnosis, and access to specialized care. While the condition can lead to significant ocular complications such as corneal perforation, many individuals benefit from current supportive measures and regular surveillance, which help in early identification and management of complications. With contemporary multidisciplinary care and attentive monitoring, quality of life can be maintained, and improvements in long-term outcomes continue as treatment strategies evolve. Outcomes described in medical literature continue to evolve as standards of care improve, and families are encouraged to connect with specialists and genetic counselors for further guidance.