diverticulosis of bowel, hernia, and retinal detachment

Diverticulosis of bowel, hernia, and retinal detachment is a syndromic intestinal malformation that combines features of marfanoid habitus with visceral diverticula. The condition has been observed in a very small number of individuals, including reports from four adults and two siblings from a consanguineous marriage, and pediatric cases presenting with diaphragmatic hernia. It is considered extremely rare, affecting fewer than 1 in 1 million people. The underlying genetic basis is still under investigation, and definitive inheritance patterns have not yet been established.

Patients with this condition may present with a combination of gastrointestinal and connective tissue manifestations. The core clinical picture includes the presence of intestinal diverticula, which may lead to diverticulosis, along with a marfanoid body habitus. In some cases, individuals have also experienced hernias and retinal detachment, while pediatric cases have reported diaphragmatic hernia. Not all individuals experience all features, and severity varies considerably between affected individuals.

The precise genetic basis of diverticulosis of bowel, hernia, and retinal detachment is under investigation. Although no specific genes have been identified, the occurrence of the condition in individuals from consanguineous unions suggests that a recessive pattern of inheritance might be involved. In the absence of confirmed genetic markers, the condition appears to result from complex genetic and environmental factors. Families are encouraged to seek genetic counseling to better understand potential risks and implications for relatives.

Currently, management of diverticulosis of bowel, hernia, and retinal detachment focuses on supportive care and symptom management. Treatment is tailored to each individual and typically involves a multidisciplinary team that may include gastroenterologists, surgeons, and ophthalmologists, among other specialists. Regular monitoring and symptomatic treatment help address complications related to intestinal malformation, hernias, and potential retinal issues. Patients should discuss treatment options with their healthcare team and consider genetic counseling for further guidance on managing this complex condition.

Outcomes for individuals with this condition vary depending on factors such as symptom severity, age at diagnosis, and access to specialized care. Modern advances in supportive and multidisciplinary care have improved quality of life, even though the long-term course remains highly variable. Severity and symptoms vary widely between individuals, and while some may experience more significant complications, others maintain relatively stable health over time. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists and genetic counselors to better understand the condition and available management strategies.