oculogastrointestinal-neurodevelopmental syndrome

Oculogastrointestinal-neurodevelopmental syndrome, also known as OGIN Syndrome, is a multi-system disorder that affects the eyes, gastrointestinal tract, and neurodevelopment. Genetic testing has identified variants in the CAPN15 gene as the underlying cause, and the condition is inherited in an autosomal recessive pattern. It is very rare, affecting fewer than 1 in a million people. The disorder generally presents in infancy with a range of symptoms involving both physical anomalies and developmental challenges.

Individuals with this condition may present with a constellation of findings that span multiple organ systems. Characteristic features include high-frequency eye abnormalities such as coloboma and various forms of microphthalmos, which affect the structure and function of the eyes. Gastrointestinal anomalies such as anal atresia and vaginal fistula, along with simple ear shape, are also observed. In addition, neurodevelopmental issues such as global developmental delay and autistic behavior emphasize the impact on cognitive and behavioral functions. Not all individuals experience all features, and severity varies considerably.

The underlying cause of oculogastrointestinal-neurodevelopmental syndrome has been linked to pathogenic variants in the CAPN15 gene. CAPN15 is believed to play a critical role in cellular processes, and disruptions in its function lead to the diverse manifestations of the condition. Inherited in an autosomal recessive manner, an individual must receive two copies of the altered gene — one from each parent — to express the syndrome. This inheritance pattern also means that the condition is more common when parents share a common ancestor, as the likelihood of both being carriers is increased.

Currently, management focuses on supportive care and symptom management since there are no specified foundational or targeted treatments available for oculogastrointestinal-neurodevelopmental syndrome. Treatment is tailored to the individual and typically involves a multidisciplinary team including specialists, who provide ongoing surveillance to detect complications early. Genetic counseling is recommended for affected families and those considering future pregnancies. Patients should discuss treatment options with their healthcare team to determine which supportive therapies may be appropriate for their specific situation.

The long-term outlook for individuals with oculogastrointestinal-neurodevelopmental syndrome is variable, with outcomes depending on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of healthcare, many individuals can achieve a stable course, although the condition may progress or remain relatively unchanged over time in different patients. 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 gain insights into managing the condition and planning for the future.