Ex-PRESS mini-shunt implanted in a pregnant patient with iridocorneal endothelial syndrome.

INTRODUCTION: The failure rate of both filtration surgery and of aqueous shunt implantation is higher for iridocorneal endothelial syndrome than in other scenarios, due to the continuous proliferation of abnormal endothelial cells over the trabecular meshwork and the filtration area and also due to the more pronounced cicatrizing response shown by these young patients. We present the first case ever described in the literature of a pregnant patient with iridocorneal endothelial syndrome and uncontrolled ocular hypertension who was implanted an Ex-PRESS mini-shunt. CLINICAL CASE: A 35-year-old female presented with diminution of vision in the left eye for 2 months. She was 20 weeks pregnant. Her visual acuity was 20/20 in right eye and 20/25 in left eye, and intraocular pressure was 11 mmHg in right eye and 34 mmHg in left eye. Slit lamp biomicroscopic examination revealed no alterations in right eye, whereas left eye showed corectopia and uveal ectropion, stroma of iris' sectoral atrophy and moderate corneal epithelial edema. Gonioscopy showed some anterior iris synechiae in left eye. Fundus evaluation was normal. Based on clinical features and examination, the diagnosis of left eye iridocorneal endothelial syndrome with decompensated intraocular pressure was made. She was prescribed topical timolol (0.5%) and dorzolamide. As a result of uncontrolled intraocular pressure and the impossibility to prescribe other hypotensive treatment available due to her being pregnant, it was decided to perform surgery in left eye using an Ex-PRESS mini-shunt and Ologen®; 6 months post surgery, intraocular pressure was 9 mmHg with no need for hypotensive treatment. The cornea was transparent, and the patient maintained her left eye visual acuity. CONCLUSIONS: Ex-PRESS mini-shunt can be considered a surgical option for iridocorneal endothelial syndrome. Its composition allows the ostium to remain open and the device triggers a milder postoperative inflammatory response. In our particular case, taking into account that the subject was a young, phakic, pregnant woman, whose intraocular pressure had to be closely controlled and we had to ensure that her postoperative care included as few drugs and as few reoperations as possible, we thought that using this device was the most appropriate option.

Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.

To report a case of late diagnosis of a classical familial homocystinuria based on an ophthalmologic examination. A 35-year-old male with Marfan-like phenotype complained of a progressive increase of myopia during the previous 2 years. Ophthalmologic exploration showed a bilateral subluxation of the lens with inferior and nasal displacement. Biochemical study detected a profile of increased amino acid levels (homocysteinemia) consistent with suspected homocystinuria. Vascular and skeletal studies ruled out Marfan syndrome. Response to treatment demonstrated B(6)-non-responsive homocystinuria. Molecular study showed compound heterozygous T353 N and D444 N mutations of the cystathionine beta-synthase (CBS) gene, and also a C667T homozygous mutation of the methylenetetrahydrofolate-reductase (MTHFR) gene. Family study showed classical homocystinuria in his father and sister, although they did not present any systemic or ocular features of the disease. Homocystinuria is a metabolic disease usually presenting at an early age as vascular, skeletal and neuropsychiatric abnormalities, as well as ectopia lentis. Our case is atypical because of the absence of thromboembolism and the mild phenotype, in spite of being B(6)-non-responsive, and the association of a rare compound heterozygous mutation of the CBS gene and also an homozygous mutation of the MTHFR gene. It is necessary to rule out homocystinuria in patients with ectopia lentis, even in the absence of systemic symptoms.

Clinicopathological study of 21 cases of eyelid actinic keratosis.

BACKGROUND: Actinic keratosis (AK) is an intraepidermal malignancy precursor form of cutaneous squamous cell carcinoma (SCC), which generally occurs in fair-skinned individuals with long-term sun exposure. We present a case series of AKs on the eyelid. METHODS: This was a retrospective study. Data of patients seen from 1994 to 2005 were used in the analyses. RESULTS: There were 21 cases of eyelid AKs in 18 patients, 11 men, and seven women, with a mean age of 70 (range 43-80) years. Most tumors were located on the upper eyelid. The mean size was 0.8 +/- 0.4 cm. The most frequent AK type was type I (76.2%). Men had bigger lesions and more frequent free-margin eyelid involvement. CONCLUSIONS: In our series, tumors were more frequent and had worse clinical and histopathological features in men. AKs are closely related to SCC and need to be removed before they turn into SCC. They can be safely and effectively removed, and therapy is therefore warranted.

Schwannoma of the eyelid: report of two cases.

Schwannomas are rare benign neurogenic tumors that show differentiation of Schwann cells that form the neural sheath. Only five reports of eyelid schwannomas in adults have been found in the English literature. We report the unusual cases of two females, aged 41 and 70 years, who developed eyelid schwannomas. Neither tumor was diagnosed clinically; both were erroneously considered as epidermal inclusion cysts. The masses were surgically removed by excisional biopsy. The histopathological examination showed encapsulated tumors composed of interlacing bundles of spindle cells with slightly wavy nuclei. Immunocytochemistry for S-100 protein was strongly positive. The diagnosis of schwannoma was made. After 12 and 2 years of follow-up, no recurrences have been observed. This entity should be included in the differential diagnosis of eyelid tumors.