Symptomatic familial primary iris cysts at the pupillary margin in three consecutive generations: A case series

Iris cysts are uncommon lesions, most of them are iris pigment epithelial (IPE) cysts which typically manifest in adults as unilateral single cysts, are typically asymptomatic and rarely require treatment. The most frequent location of IPE cysts is the iris periphery and the iridociliary sulcus, whereas pupillary cysts are rare. This observational case series aims to describe a unique occurrence of bilateral pupillary IPE cysts in three consecutive generations of a single family.

The series describes eight patients of a single family with no consanguineous marriage. All patients have IPE cysts with remarkable abnormally-shaped pupils. The patients were examined at the slit-lamp and imaged with anterior segment optical coherence tomography. Three brothers (14, 19 and 28 years old) were symptomatic and suffered from hemeralopia and reduced visual acuity. ND-YAG laser was successful in relieving the symptoms in the two younger brothers. No recurrence or refill of the cysts occurred after laser application and no intra- or ppostoperative complications were observed during a 9-month follow-up. The older family members showed spontaneously shrunken IPE cysts.

IPE cysts are considered idiopathic with an unclear origin. The rare familial incidence of the cysts suggests an autosomal dominant heredity pattern. Many theories were proposed to explain the origin of cysts and none is conclusive. Their principal clinical significance is their similarity to pigmented iris tumors, but they might also cause visual symptoms. Treatment modalities vary from less invasive chemical compounds and ND: YAG laser application to more invasive surgical procedures with disparate efficacy and safety. In the case of multiple cysts, examination of other family members is worthy even when asymptomatic and cardiac consultation of affected patients is warranted as IPE cysts may proclaim a coexisting cardiovascular abnormality, such as familial aortic dissection.