Congenital ectropion uveae (CEU) with refractory glaucoma: Early trabeculectomy saves vision.

We report the case of congenital ectropion uveae in a 10-year-old boy with intractable unilateral glaucoma but no systemic association. Glaucoma in congenital ectropion uveae is often poorly responsive to medial therapy and requires surgical intervention. Satisfactory results are possible if diagnosis is established early and timely surgery performed, as was the case in our patient.

Sectoral Ciliary Body Agenesis Complicated with Cataract Formation Diagnosed by Ultrasound Biomicroscopy

We aimed to present a novel case of sectoral ciliary body agenesis and complicated cataract as an embryogenic defect of eye development diagnosed by ultrasound biomicroscopy. A 20-year-old male patient presented with a complaint of visual impairment in his left eye since childhood. Slit-lamp examination of the left eye revealed pigment precipitation and focal lens opacities extending from the temporal quadrant through the posterior lens capsule, blocking the central optical axis. On ultrasound biomicroscopy examination, there was a hyperechoic reflection belonging to the rudimentary ciliary body structures between 2-5 o'clock in the temporal quadrant. The zonules could not be visualized in the same location. At all other quadrants of the anterior chamber angle, the ciliary body and zonules were normal. This is a very rare case of sectoral ciliary body agenesis complicated by cataract. Ultrasound biomicroscopy may be useful for detecting rare congenital anomalies of the anterior segment, anterior chamber angle, and ciliary body.

Congenital ectropion uveae with glaucoma: a case report.

Congenital ectropion uveae (CEU) is a rare anomaly characterized by ectropion uveae, iris hypoplasia, iridotrabecular dysgenesis and glaucoma. The apparent ectropion uveae results from the spread of iris pigment epithelium beyond the iris ruff and onto the anterior surface of the iris. Conclusion Open-angle glaucoma results due to angle dysgenesis, so patients should be carefully examined periodically for its early detection.

Congenital iris ectropion uveae presenting with glaucoma in infancy.

A healthy 5-month-old boy presented with a sporadic unilateral right-sided sectorial ectropion uveae, anterior insertion of the iris root, increased IOP, and glaucomatous disk changes. The absence of other additional ocular anomalies and the appearance of the angle led to a diagnosis of congenital iris ectropion syndrome. IOPs became refractory to maximal topical therapy, and trabeculotomy surgery was performed. The patient has since been stabilized on topical agents.

Congenital ectropion uveae with iris coloboma and telecanthus.

Congenital ectropion uveae (CEU) is a rare, non progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface and is frequently associated with anterior iris insertion, dysgenesis of the drainage angle and glaucoma. This paper describes an unusual case of bilateral congenital ectropion uveae with iris coloboma and telecanthus. The anterior chamber angle was normal and there was no evidence of glaucoma. To the best of our knowledge, this association has not been reported previously.

[Congenital uveal ectropion with glaucoma]. / Ectropion uveae congenitum cum glaucoma.

The authors presented a case, not yet described in Polish literature, of a rare congenital syndrome of uveal ectropion. It was found in a 3-year child. The clinical course of the disease was typical, with associated consecutive glaucoma.

Congenital ectropion uveae with glaucoma.

Congenital ectropion uveae (CEU) is a rare, non progressive anomaly characterised by the presence of iris pigment epithelium on the anterior surface, an anterior iris insertion, dysgenesis of the drainage angle and glaucoma. The condition is characteristically unilateral and rarely hereditary. The current theory of development arrest is discussed. We report three cases with CEU of which two already developed glaucoma. All patients with CEU should be carefully examined periodically to detect glaucoma.

[Melanosis oculi and malignant choroid melanoma]. / Melanosis oculi et le mélanome choroïdien malin.

The patient aged 75 years presents since her youth, in the left eye, ocular melanosis with abnormal pigmentation of the sclerotic, hyperpigmentation of the iris and abnormal pigmentation of the fundus oculi. Six months ago, she noticed that she is not able to see with this eye, and the fundus oculi examination emphasizes a malignant choroidal melanoma, with a fixed detachment of the retina. The authors show that the denomination Bourquin's benign ocular melanosis, under which the affection is known, is improper, as 10% of the cases of ocular melanosis degenerate into melanosarcomas. The term melanosis oculi is the most adequate one.

Congenital ectropion uveae and glaucoma.

Congenital ectropion uveae is a rare condition which may be present in one or both eyes. If the patient is followed glaucoma will always be found to be present. Associated features which have been described are ptosis, Rieger's anomaly, Prader Willi syndrome, facial hemiatrophy and neurofibromatosis. This paper describes a patient followed for 18 years who had bilateral congenital ectropion uveae, bilateral ptosis, asthma and late onset of a dental defect.

Genetics in pediatric ophthalmology.

Genetic factors are becoming increasingly important causes of both congenital and acquired eye disease in the pediatric age group. Referral to an ophthalmologist is important both for global genetic disorders potentially affecting the eye and for eye disorders that may be diagnostic for genetic disease.

Helicoidal peripapillary chorioretinal degeneration.

A family with helicoidal peripapillary chorioretinal degeneration is described. This is a rare bilateral fundus affection--only seven more or less typical cases have been reported in the literature. 21 patients from the same family in four generations were examined, 10 men and 11 women. Seven men and six women showed a helicoidal affection. Of this number, there were 11 children aged from 4-17 years, six were girls of whom three had helicoidal fundus and five were boys of whom two were affected. General examination revealed nothing of particular interest. We have here a congenital hereditary fundus anomaly or minor malformation in four generations--young people with normal visual acuity who develop with age a clear tendency to invasion of the macular region by a degenerative process. This is most dangerous for the visual acuity when the atropic helicoidal wings lie in or near the macula region.

Congenital miosis.

The inheritance of congenital miosis in 2 pedigrees is described. The inheritance was autosomal dominant in one and autosomal recessive in the other. The pupils were 0.5-2.5 mm diameter, reacted normally to light and accommodation but dilated poorly with mydriatics. In both pedigrees, the affected members had enlarged corneas. The five members in the autosomal dominant family were myopic and had translucent peripheral irides. Iridodonesis was presented in both members of the autosomal recessive pedigree. The embryology and innervation of the iris muscles together with the ocular abnormalities and syndromes associated with congenital miosis are reviewed.

Unilateral congenital iris pigment epithelial hyperplasia associated with late-onset glaucoma.

We observed a 41-year-old man with congenital unilateral iris pigment epithelial hyperplasia associated with unilateral glaucoma, and considered the possible pathogenesis of this unique lesion and its relationship to the patient's glaucoma.

The management of choroidal tumors.

TWe have outlined a systematic approach to the management of choroidal lesions which might appear to be choroidal melanoma: 1. When a solid, elevated mass is suspected of being a malignancy, first complete a thorough examination of both eyes, including a detailed history. Arrange for a general medical evaluation to detect sources of metastatic lesions or early metastases from the eye. 2. Eliminate the possibility of flat choroidal lesions by slit-lamp and indirect ophthalmoscopic examination. These are considered benign and can be followed at routine intervals with simple sketches or color fundus photographs. Fluorescein angiography is not essential, but can confirm the benign appearance and help in following overlying secondary changes such as pigment epithelial defects. 3. Rule out serous or cystic lesions by the use of slit lamp and fundus contact lens, and indirect ophthalmoscope with transillumination. Fluorescein angiography again can help confirm the benign nature of these lesions, but the serial fundus examinations are definitive in 99 percent cases. 4. Document the appearance of the lesion with drawings, stereo-photographs, and stereo angiography. Follow the evolution of the lesion with these modalities for a sufficient time to be certain of the diagnosis. 5. Follow lesions in the peripapillary area with particular care.