Iris Flocculi Research Articles

Клинический случай врожденной аномалии сосудистой оболочки глаза – флоккулы радужки

Purpose. Description of a clinical case of an iris floccule in a girl of 17 years old. Material and methods. 17-year-old patient who complained about a decrease in vision of the right eye and a change in the shape of the pupil. she was examined by visimetry, biomicroscopy, tonometry, ophthalmoscopy. 3 years ago she was consulted at the ophthalmology center, where there was revealed lysoriness and changes in the eyes. No surgical or laser treatment has been proposed. Changes in the area of pupil's parents noticed in early childhood, in the last 3 years the changes increased. Result. The patient was assigned midriatics, to open the optical zone and improve visual acuity, recommended consultation to resolve the issue of surgical or laser removal of brush-shaped floccules to eliminate obscuration and prevent amblyopia. Conclusion. Clinical case indicates that timely surgical treatment is necessary to achieve results. Treatment should be carried out as soon as possible, since vision loss is a high-risk area for the development of obscurative amblyopia. Key words: iris flocculi, vascular abnormalities.

A child with bilateral iris cysts: Iris Flocculi

A child with bilateral iris cysts: Iris Flocculi

Cysts of the Iris Pigment Epithelium. What Is New and Interesting? The 2016 Jose Rizal International Medal Lecture.

Cysts of the iris pigment epithelium (IPE) can involve the pupillary margin, midzone, or peripheral location or can be free-floating in the aqueous or vitreous or lodged in the anterior chamber angle. Avariant of IPE cyst, known as iris flocculi, can be a marker for systemic thoracic aneurysm. Review of IPE cysts and description of new observations of the lesions. Review of IPE cysts. Lesions in 672 eyes were classified as of the pupillary margin (n = 49; 7%), midzone (n = 188; 28%), peripheral (n = 424; 63%), or dislodged/free-floating (n = 11; 2%). Cysts of the IPE occurred most often in young adults (21-40 years) (n = 229; 34%) manifesting with peripheral or midzonal cysts. The characteristic clinical features of pupillary margin cyst were teardrop configuration at the pupillary margin, midzonal cyst with fusiform brown appearance, peripheral cyst as iris stromal bulge, dislodged cyst as a brown lesion in the angle, and free-floating cyst with round mass moving by gravitational forces in the aqueous or vitreous. Ultrasound biomicroscopy and anterior segment optical coherence tomography demonstrated the lesions. Surgical intervention for drainage/resection was rarely necessary (<1%). Some (<1%) cysts were associated with iris nevus, iris melanoma, or ciliary body melanoma. Pupillary margin cysts (flocculi) can be found with dissecting thoracic aortic aneurysm, related to genetic mutation in smooth muscle of the iris and aorta. Cysts of the IPE most often affect the peripheral region (iridociliary) and rarely require intervention. These cysts can be associated with underlying iris or ciliary body nevus or melanoma. Patients with iris flocculi should be monitored for dissecting thoracic aneurysm.

Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3

Posterior polymorphous corneal dystrophy 3 (PPCD3) is a rare autosomal dominant disorder caused by mutations in ZEB1. To date all identified disease-causing variants were unique to the studied families, except for c.1576dup. We have detected six novel ZEB1 mutations; c.1749_1750del; p.(Pro584*) and c.1717_1718del; p.(Val573Phefs*12) in two Czech families, c.1176dup; p.(Ala393Serfs*19), c.1100C>A; p.(Ser367*), c.627del; p.(Phe209Leufs*11) in three British families and a splice site mutation, c.685-2A>G, in a patient of Sri Lankan origin. An additional British proband had the c.1576dup; p.(Val526Glyfs*3) mutation previously reported in other populations. Clinical findings were variable and included bilateral congenital corneal opacity in one proband, development of opacity before the age of 2 years in another individual and bilateral iris flocculi in yet another subject. The majority of eyes examined by corneal topography (10 out of 16) had an abnormally steep cornea (flat keratometry 46.5-52.7 diopters, steep keratometry 48.1-54.0 diopters). One proband underwent surgery for cryptorchidism. Our study further demonstrates that PPCD3 can present as corneal edema in early childhood, and that an abnormally steep keratometry is a common feature of this condition. As cryptorchidism has been previously observed in two other PPCD3 cases, its association with the disease warrants further investigation.

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

ObjectiveTo evaluate the prevalence and phenotype of smooth muscle alpha-actin (ACTA2) mutations in non-syndromic thoracic aortic aneurysms and dissections (TAAD).DesignObservational study of ACTA2 mutations in TAAD.SettingCentre for Inherited Cardiovascular Diseases.PatientsA...

Familial Aortic Dissection and Congenital Iris Flocculi with Hypertension

Familial clusters of aortic dissection without connective tissue diseases are rare. We report a family with aortic dissection, congenital iris flocculi and hypertension in the young. This suggests that this combination of an uncommon familial phenotype may have a common etiology.