The Eye As A Window To The Aorta: Bilateral Iris Flocculi As A Sentinel Sign Of Familial Aortopathy

To present a case of incidentally detected bilateral iris flocculi during routine ophthalmologic examination and to underline the possible systemic implications of this rare ocular finding. Iris flocculi are congenital cyst-like lesions arising from the iris pigment epithelium at the pupillary margin. Although they are usually asymptomatic and considered benign, several reports describe an association with ACTA2 gene mutations affecting vascular smooth muscle cells and predisposing patients to familial thoracic aortic aneurysm and dissection. Recognizing these lesions may therefore be important not only for ophthalmic diagnosis but also for identifying individuals who may benefit from cardiovascular evaluation and follow-up.

The patient was evaluated in a tertiary ophthalmology clinic. Comprehensive anterior segment examination including slit-lamp biomicroscopy and anterior segment optical coherence tomography (AS-OCT) was performed. Because of the remarkable family history, cardiology and medical genetics consultations were arranged to further investigate possible cardiovascular involvement and to evaluate the risk of hereditary aortic pathology.

A 41-year-old female presented for routine ophthalmologic evaluation without ocular or systemic complaints. A comprehensive ophthalmic examination was performed including best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure measurement, pachymetry, and dilated fundus examination. Anterior segment OCT was used to assess the lesions at the pupillary margin. A targeted systemic and family history revealed premature cardiovascular deaths in first-degree relatives (father at 38 years, sister at 26 years). The patient was referred for cardiologic evaluation including transthoracic echocardiography, and genetic counseling was recommended due to the possible association between iris flocculi and inherited aortic disease.

Best corrected visual acuity was 1.0 in the right eye and 0.9 in the left eye. Intraocular pressure was 14/15 mmHg and central corneal thickness 590/600 µm. Corneas were clear and anterior chambers quiet. No cataract noted, and fundus examination showed normal optic discs and maculae bilaterally. Slit-lamp examination revealed pigmented nodular lesions along the pupillary margin consistent with iris flocculi. AS-OCT confirmed thin-walled cystic structures from the iris pigment epithelium. Transthoracic echocardiography showed preserved cardiac function (EF 60%), LVEDD 48 mm, LVESD 26 mm, IVS 10 mm, PW 10 mm, and an ascending aorta of 31 mm. Cardiology evaluation was otherwise normal; annual follow-up and genetic counseling were recommended.

Although iris flocculi are uncommon and usually regarded as benign findings, they may represent an important ocular marker of familial thoracic aortic aneurysm and dissection (TAAD) associated with ACTA2 gene mutations affecting vascular smooth muscle cells. Careful slit-lamp examination can reveal these subtle lesions during routine visits. When accompanied by a family history of premature cardiovascular death, systemic evaluation should be considered. Collaboration between ophthalmology, cardiology and medical genetics may allow earlier identification of patients at risk for aortic pathology and facilitate appropriate counseling and follow-up. Thus, a subtle ocular finding may help detect a potentially life-threatening systemic disease.