Primary cutaneous anaplasic large-cell lymphoma involving medial canthus of the eyelid. / Linfoma anaplásico de células grandes primario cutáneo del canto medio palpebral.

Cutaneous anaplastic large-cell lymphoma (cALCL) is a condition within CD30 lymphoid proliferations spectrum. Involving the eyelid is unusual and all cases found in the literature are located in the upper eyelid. In this case we report an cALCL atypical presentation. A 39 year-old woman with no significant medical history, presents a fast-growing mass in the medial canthus, with inflamatory-infectious appearance. After a week with antibiotics with no response, an excisional biopsy was practiced. The hystopathology analysis with a negative systemic work up confirmed the diagnosis of a cALCL. After two-year follow up, patient is asymptomatic. cALCL involving the eyelid are rare but potentially life-threatening disorders, so more information about diagnosis, treatment and follow up is needed.

Eyelid metastasis as first presentation of renal cell carcinoma. / Metástasis palpebral como primera manifestación de un tumor renal.

CASE REPORT: An 87-year-old male presented with a slow-growing, painless and well defined nodule in the upper eyelid. The tumour measured 1cm, and was pigmented and adhered to deep planes. The histopathology analysis was compatible with renal cell carcinoma. The extension study showed a tumour mass in each kidney, as well as multiple pulmonary metastases. DISCUSSION: The ophthalmologist can play an important role in the diagnosis of metastatic cancer when eye disease is present. Therefore, the importance of a biopsy should be noted in those suspicious and/or recurrent lesions of the eyelid.

[Vascular morphological and microdensity changes of corneal neovascularization induced by topical bevacizumab and sunitinib in an animal model]. / Cambios en la morfología y la microdensidad neovascular corneal inducidos tras la administración tópica de bevacizumab y sunitinib en un modelo animal.

OBJECTIVE: To evaluate the effects of topical bevacizumab and topical sunitinib on vascular microdensity and morphology of corneal neovascularization (NV). METHODS: A total of 33 rabbits were distributed into 3 groups: group 1 (control; n=11): saline; group 2 (n=11): bevacizumab 5mg/ml; and group 3 (n=11): sunitinib 0.5mg/ml. A corneal NV model was used, based on sutures in the right eye of each rabbit. Each treatment was administered topically 3 times daily for 14 days. Corneas were then processed for the study of vascular microdensity (6 eyes) and vascular morphology analysis (5 eyes) using enzymatic staining histological techniques RESULTS: The vascular response in group 3 was limited to small-sized tree formations with various vascular axes compared with the extensive, lush and directional corneal NV of group 1 and 2. In the histological sections near the limb, there were no differences in vascular microdensity studies between the three groups. However, the mean sectional area of vessels (MSAV) in group 3 was 41.88% lower than in group 1 and 19.19% lower than in group 2. In distal sections, there were no differences between groups 1 and 2. However, group 3 was characterized by absence of vessels. CONCLUSIONS: Bevacizumab produced no changes in the morphology of the vessels or the vascular microdensity. Sunitinib reduced the size of the new vessels and induced changes in the vascular tree.

Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.

Glaucoma is an inherited complex and heterogeneous disease, and one of the most prevalent causes of definitive blindness in the world. Recent reports have indicated that heterozygous mutations of the CYTOCHOROME P4501B1 (CYP1B1) gene are present in 4-10% of patients with primary open-angle glaucoma (POAG). To further evaluate the role of CYP1B1 mutations in POAG we extended our previous association study and carried out a functional analysis of the mutations identified by polymerase chain reaction (PCR) DNA sequencing of the three exons of the gene in a total of 245 unrelated Spanish patients and 326 control subjects. Eight of nine different mutations identified in these patients were cloned and functionally assessed by measuring ethoxyresorufin O-deethylation activity and CYP1B1 stability in transiently transfected HEK-293T cells. All these mutants showed reduced catalytic activity, ranging from 20% to 60% of wild-type and/or decreased protein stability and, therefore, they were classified as hypomorphic alleles. No null alleles were identified in these patients. We found heterozygous hypomorphic CYP1B1 mutations in 17 (6.7%) patients and in seven controls (2.1%) showing that these mutations are associated with an increased risk of POAG (p = 0.005; odds ratio = 3.2; 95% confidence interval = 1.30-9.19). Our data suggest that hypomorphic CYP1B1 mutations are, to date, the main known genetic risk factor in POAG.

Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

Primary congenital glaucoma (PCG), a rare, severe and blinding disease, usually results from mutations in the CYP1B1 gene located in chromosome 2p22.2. Uniparental isodisomy (UPID) is also a rare condition in which a diploid offspring carries two identical copies of a single parental chromosome. By DNA sequence analysis, we found that a proband (female newborn) affected by PCG was homozygous for the null-allele F261L of the CYP1B1 gene. Her father was a heterozygous carrier for this mutation, and unexpectedly her mother carried only the G168D mutation in the heterozygous state. Segregation analysis of eight microsatellite markers which spanned the two arms of chromosome 2 was consistent with paternal isodisomy for this chromosome in the proband. To the best of our knowledge, this is the first reported case of UPID resulting in PCG and the fifth reported case of paternal UPID for chromosome 2. In addition, the absence of a clinical phenotype other than PCG confirms previous observations of there being no paternally imprinted genes in chromosome 2 that have major phenotypic effects. These results, along with previous reports, also suggest that UPID may play a relevant role in recessive diseases linked to chromosome 2.

[Combined trabeculotomy-trabeculectomy as the initial surgical procedure of primary developmental glaucoma]. / Trabeculotomía-trabeculectomía combinada como tratamiento quirúrgico inicial del glaucoma congénito primario.

PURPOSE: To evaluate the long-term outcome of trabeculotomy-trabeculectomy as the primary surgical treatment for primary congenital glaucoma. METHODS: Twenty-two eyes of 14 consecutive patients with primary congenital glaucoma who underwent combined trabeculotomy-trabeculectomy as the initial procedure between 1981 and 2005 were selected for review. Records of ocular family history, age at onset of glaucoma, symptoms and signs, corneal integrity, intraocular pressure (IOP), gonioscopy, surgery, postoperative complications, visual acuity, refractive error, endothelial microscopy, axial length, visual fields and final status of the optic nerve head were entered into a computer database. The outcome, in terms of IOP obtained, was evaluated using Kaplan-Meier survival analysis. RESULTS: Cumulative probabilities of success, after performing combined trabeculotomy-trabeculectomy as the initial operative procedure, were 95.5% after 12 months and 78.2% after 24 months, with this rate being maintained during 15 years of follow-up. Four eyes (18.1%) required more than one operative procedure because of persistent raised IOP. Postoperative complications were rare. At the time of the last follow-up, of 12 eyes from 8 co-operative patients, the final best spectacle-corrected visual acuity was 0.5 (20/40) or better, in 75% (9 eyes). CONCLUSION: Combined trabeculotomy-trabeculectomy as the primary surgical procedure offers long-term high efficacy in the control of IOP without medical treatment, is rarely associated with surgical complications, and a low need for re-operations

Actinomyces neuii subspecies anitratus chronic endophthalmitis after cataract surgery.

PURPOSE: To report a case of unusual chronic endophthalmitis by Actinomyces neuii subspecies anitratus. METHODS: A 75-year-old man underwent uneventful phacoemulsification with implantation of a foldable posterior chamber intraocular lens in his right eye. Four weeks after surgery, a chronic post-operative endophthalmitis characterized by anterior chamber and vitreous cellular debris developed in this eye. Cultures were positive, and A neuii subspecies anitratus was identified by polymerase chain reaction and subsequent rRNA sequence analysis. Immediate treatment included intravitreal and intensive topical antibiotics along with oral ciprofloxacin. RESULTS: The condition improved rapidly, and 6 months after surgery the patient was asymptomatic, the best spectacle-corrected visual acuity was 20/22, and the anterior chamber was quiet. CONCLUSIONS: A neuii subspecies anitratus should be considered in the differential diagnosis of chronic endophthalmitis after cataract surgery. Polymerase chain reaction and subsequent RNA typing were useful in detecting the causative organism, and intravitreal antibiotics were successful.

[An orbital metastasis as the presentation of lung adenocarcinoma]. / Metástasis orbitaria como primera manifestación de adenocarcinoma pulmonar.

INTRODUCTION: Metastasis of primary tumours can involve the orbit via the blood stream. In 19% of cases this type of metastasis is the first oncologic symptom. CASE REPORT: A 42-year-old woman with a hard, well-defined nodule situated anteriorly in the right orbit and with mild associated inflammation. MR showed an oval image with homogeneous gadolinium uptake. On excision-biopsy a ductal cancer was found and determined on CAT scan to be of pulmonary origin. Chemotherapy was given and no recurrence occurred in the orbit. CONCLUSION: Ophthalmologic examination was the first step in the diagnosis of a metastasis of adenocarcinoma of the lung.