Vision is one of the most vital human senses, relying on a complex arrangement of optical structures to process light. Central to this system is the pupil, the aperture in the center of the iris that regulates the amount of light reaching the retina. When this aperture fails to form or becomes completely blocked, a rare condition known as acorea occurs. Acorea, or the complete absence of the pupil, can be devastating to visual development if left unaddressed. Understanding its etiology, clinical presentation, and management is essential to preventing lifelong visual impairment. Etiology and Pathogenesis
This form occurs as a birth defect due to disruptions during embryogenesis. During fetal development, the mesodermal tissue of the iris is supposed to regress to form the pupillary opening. If this regression fails, a persistent pupillary membrane or thick fibrous tissue seals the center of the iris. While many cases are idiopathic or sporadic, others show a hereditary pattern. Recent genetic research has linked familial acorea-microphthalmia-cataract syndrome to mutations in the GJA8 gene, which encodes gap junction proteins critical for lens and eye development. acorea
This type is much less common and occurs later in life as a result of severe ocular trauma or chronic inflammatory diseases. Prolonged conditions like severe uveitis or advanced leprosy can cause the iris to fuse or become covered with thick, fibrotic scar tissue that completely obliterates the pupil. Clinical Challenges and Diagnosis Vision is one of the most vital human
Acorea can be broadly categorized into two types: congenital and acquired. Acorea, or the complete absence of the pupil,
Acorea is a rare ophthalmological condition defined as the . Deriving from the Greek "a-" (without) and "kore" (pupil), this condition means light cannot pass properly through the iris to the retina.
