Congenital ectropion uveae and glaucoma

Vujica Markovic1, Paraskeva Hentova-Sencanic1, Marija Bozic1, Ivan Marjanovic2, Vesna Babic2

1Faculty of Medicine, University of Belgrade, Serbia, Clinic for Eye Desease, CCS, Serbia 2 Glaucoma department, University Eye Clinic, Clinical Centre of Serbia, Belgrade, Serbia

Background

Congenital ectropion uveae (CEU) is a rare, nonprogressive condition insufficiently and

rarely mentioned in the ophthalmologic literature.

CEU is characterised by the ectropionated pigment epithelium layer on the front surface of

the iris from the pupillary ruff, anterior insertion of the iris, dysgenesis of the iridocorneal

angle and glaucoma. Etiologically, ectropion uveae can be classified in two groups: acquired

and congenital. There are few reports that are available in the literature and they generally

refer to it as congenital ectropion uveae (CEU). So the term CEU persists in clinical use.

Some studies have also found CEU joined with congenital anomalies and hereditary

diseases.

Methods and results

During the period of 10 years, 9 patients with acquired CEU were followed. 8 patients of 9

with acquired CEU that were manifested monocular had glaucoma. In 3 cases the disease

is manifested by the end of the third year of life, and in the remaining 6 cases the disease is

manifested later. Clinically, CEU is characterized by the ectropionated pigment epithelium

layer on the front surface of the iris from the pupillary ruff (Picture 1,2,3,4). Clinical

examinations have revealed no hypoplasia of the iris stroma, neovacularisation of iris,

nodules, neoplasm, other abnormalities of the iris or underlying systemic diseases, so it is

assumed that this syndrome originates from abnormal migration of neural crest cells. Angle

anomalies appear to be universal in most of the cases, demonstrating anterior insertion of

the iris, prominent iris processes and/or increased pigment, and were confirmed by indirect

gonioscopy and UBM (Picture 5). Intraocular pressure (IOP) on the first examination in

affected eyes was > 42mmHg. Fundus examination of affected eye was >0.6:1 cupping of

the optic disc with a significant pallor of the neuroretinal rim (Case from Picture 1). HRT II

(Heidelberg Retinal Tomography) showed loss of NR rim and increase in cup/disc ratio

(C/D=0.626) in affected eye in case from Picture 1, so the findings of Moorfields regression

analysis were classified as “outside normal limits” (Picture 6). Glaucoma was confirmed in 8

of 9 patients and was treated by the local antiglaucomatous therapy (topical timolol and

acetazolamid) in affected eyes, which resulted in glaucoma compensation at 2 patients.

However, in 6 patients when introducing and implementing local therapy, IOP showed initial

drop, but values rised up shortly despite the combined local therapy applied. IOP was >

27mmHg in affected eyes (on oral acetazoalmid and topical timolol and latanoprost). The

IOP responded poorly to topical medication and a trabeculectomy was performed which

controlled IOP (Picture 7 and 8). IOP values after the surgical treatment on control

examinations were within normal limits (10-18mm Hg). TTR procedure did not only

normalised IOP, but also induced neuroretinal rim PNO recovery (Case from Picture 1). HRT

II findings 18 months after the procedure reflected reduction in cup/disc ratio (C/D=0.330)

and restitutio of NR rim, so the findings of Moorfields regression analysis were classified as

“within normal limits” (Picture 9). Histological examination on pathohistological sample of

iridectomy showed no abnormalities on iris tissue.

Conclusion

CEU is a very rare iris malformation, with high percentage of joined glaucoma. Glaucoma

onset is usually in childhood or adolescense, but cases with later presentation were also

described. IOP shows an initial drop after the therapy is introduced, but values rise up

shortly and most cases demand filtration surgery. Although CEU is non-progressive and

benign eye disease, it takes a high degree of caution to detect the associated glaucoma as

soon as possible, so that an irreversible optic disc neuropathy can be prevented with

surgery.

Picture 1 Picture 2

LITERATURE

1. Mandal AK. Late-onset unilateral primary developmental glaucoma associated with

iridotrabecular dysgenesis, congenital ectropion uveae and thickened corneal nerves: a new

neural crest syndrome? Ophthalmic Surg Lasers 1999;30:567–70.

2.Harasymowycz PJ, Papamatheakis DG, Eagle RC, Wilson RP. Congenital Ectropion Uveae and Glaucoma. Arch Ophthalmol. 2006;124:271-273

3. Bansal A, Luck J. Primary iris pigment epithelial hyperplasia and glaucoma. Br J Ophthalmol 2002; 86: 350–353. et all…

4. Bechetoille A, Ebran JM, Bigorgne. Congenital ectropion of the iris epithelium and

glaucoma. J Fr Ophtalmol 1985;8:529–34.

5. Hertzberg R. Congenital ectropion uveae and glaucoma. Aust NZ J Ophthalmol 1985;13:45–8

Picture 9

Picture 3 Picture 4

Picture 5

Picture 6

Picture 7 Picture 8