Corneal endothelial cell density during diabetes mellitus and ocular diabetes complications treatment.

Diabetes mellitus may affect the cornea at various levels. Ocular surface changes and dry eye had been studied. Researchers are concerned that medical treatment of diabetes or retinal complications may result in endothelial damage and cell loss. This report summarizes the possibility of endothelial cell loss in diabetic patients. A decrease in endothelial cell density (ECD) in diabetic patients has been reported. In addition, corneal thickness may increase in diabetic patients. Significant endothelial cell loss has been demonstrated in long-term disease and in cases of poor metabolic control. No association between the use of oral hypoglycemics and ECD has been reported. There is also no evidence of an association between the use of insulin and corneal endothelial damage. No difference in ECD among the various degrees of retinopathy or with a history of photocoagulation has been shown. Regarding the studies comparing diabetic and non-diabetic patients undergoing cataract surgery, in all cases, the decrease in ECD is higher in diabetic patients than that seen in non-diabetic patients. However, there is no evidence of increased endothelial damage in diabetics compared to non-diabetics during vitreo-retinal surgery in phakic eyes. No significant changes in corneal endothelium after intravitreal anti-VEGF injections have been referenced.

Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy.

PURPOSE: To report the presence of the R124H mutation in two Spanish families with Avellino corneal dystrophy (ACD). METHODS: Two families with subjects who presented biomicroscopic features of ACD were included in this study. They have no relatives of Italian origin. Genomic DNA of the patients was isolated from peripheral blood. DNA was amplified using primer pairs corresponding to exons 4 and 12. RESULTS: In Family 1, Patients I-1, II-1, and II-3 presented granular deposits in the anterior stroma. In Family 2, Patients I-1 and II-1 presented similar deposits in anterior stroma; Patient I-2 presented biomicroscopic findings similar to granular corneal dystrophy (GCD) and isolated fine lattice deposits. Patient II-2 presented isolated central granular deposits and remarkable lattice deposits in the form of Christmas tree. An identical point mutation in the BIGH3 gene (TGFBI) was observed in all affected members of the two families. The mutation consisted of a substitution of arginine by histidine at amino acid residue 124. It was reflected in the sequence analysis by the presence of a G to A transition at nucleotide 418. The mutation was not found in unaffected family members. CONCLUSIONS: The detection of the R124H BIGH3 mutation confirmed the diagnosis of ACD in the reported families. This is the first study that shows the presence of such mutation in Spain. The authors found the same mutation reported in other countries. In earlier stages, BIGH3 mutation analysis may help to distinguish ACD from GCD, particularly in young patients.

[Posterior polymorphous dystrophy and LASIK]. / Distrofia polimorfa posterior y LASIK.

OBJECTIVE/METHOD: A 50-year-old hyperopic woman requested information about refractive surgery. Vesicle and band lesions at Descemet's membrane and endothelium were suggestive of posterior polymorphous dystrophy (PPD). Lower than normal endothelial cell densities were detected. A corneal refractive procedure was not recommended in this case. RESULTS/CONCLUSIONS: The presence of vesicles and bands at Descemet's membrane and endothelium is suggestive of PPD. Specular microscopy is mandatory in such patients, although corneal decompensation is not evident. A low endothelial cell count may be a contraindication for a hyperopic LASIK procedure in cases of PPD because of the possible risk of corneal decompensation.

Lattice corneal dystrophy type II: clinical, pathologic, and molecular study in a Spanish family.

PURPOSE: To report a family with lattice corneal dystrophy type II (LCD II) associated with systemic amyloidosis type V. METHODS: A 69-year-old woman presented a LCD II and marked dermachalasis. A lower blepharoplasty was performed. Two years later a penetrating keratoplasty was performed in her left eye. Three children of the patient were studied. Subtle manifestations of LCD were identified in two of them. Pathologic study of the excised skin and corneal button was made. DNA from peripheral blood was obtained, and was subjected to amplification of exon 5 of the gelsolin. RESULTS: Pathologic examination of the skin of blepharoplasty specimen demonstrated the presence of amyloid. Microscopic examination of the corneal button showed the presence of amyloid deposits beneath the normal-appearing Bowman layer and also within the stroma. Immunostaining for S-100 protein did not demonstrate a significant relationship between amyloid deposits and corneal nerves. Electron microscopic evaluation demonstrated the presence of amyloid fibrils. No clear relationship was found between amyloid deposits and corneal nerves. These findings confirm LCD type II or Meretoja syndrome. A mutation analysis of the gelsolin gene demonstrated the presence of G to A transition at nucleotide 654. Two children with manifestations of LCD also showed the identical mutation in gelsolin gene. CONCLUSIONS: A new family with Meretoja syndrome is reported. This is the first documented family with Meretoja syndrome in Spain and in the Mediterranean countries. The molecular study shows the same mutation of reported families from Finland, Japan, the United States, and the United Kingdom.

A new case of acute idiopathic frosted branch angiitis in Europe.

CASE REPORT: A 20-year-old male with no history of any systemic or eye disease developed loss of visual acuity in both eyes. White exudates surrounding the retinal veins from the posterior pole to the periphery, retinal edema and hemorrhages in both eyes were evident on ophthalmoscopy. Fluorescein angiography showed leakage of the dye from the veins and extensive staining of the vein walls. A diagnosis of acute frosted branch angiitis was made. Systemic examination revealed axillary, submandibular and inguinal lymphadenopathies. VCA IgM antibody for Epstein-Barr virus was negative and IgG positive. Biopsy was taken of an axillary lymph node; a non-specific inflammatory reaction was found on anatomopathologic study. The patient was started on 90 mg prednisolone daily. After two weeks retinal vasculitis had improved and the lymphadenopathies soon resolved. Small, hard exudates were present in the posterior pole during absorption of the retinal edema and resolution of the vascular inflammation. Systemic prednisolone were reduced progressively and definitively withdrawn two months later. The patient's visual acuity was 20/25 in both eyes. No fibrotic scar tissue or atrophic lesions were noted in either fundus. CONCLUSIONS: We report a new case of acute frosted branch angiitis with an onset and favorable clinical course similar to previous reports. We found the additional presence of lymphadenopathies but have been unable to establish a possible causal agent. To our knowledge, apart from a recent case of frosted branch angiitis-like response in Greece, the present case is the first reported in western Europe.

Noonan's syndrome with keratoconus and optic disc coloboma.

We report the case of a 14-year-old girl with multiple findings characteristic of Noonan's syndrome, including short stature, mild mental retardation, facial, skeletal and renal abnormalities. In addition, ophthalmic examination revealed a keratoconus in the left eye and a right optic disc coloboma. To date, only two cases of Noonan's syndrome with keratoconus have been reported, and this is the second case of this syndrome with optic disc coloboma. To our knowledge, this is the first report of Noonan's syndrome associated with unilateral keratoconus and contralateral optic disc coloboma. In view of the large number of patients with Noonan's syndrome reported to date and the rarity of these ocular abnormalities, it is most likely that this association is fortuitous. Ocular findings reported in patients with Noonan's syndrome are reviewed.

[Size of incision and induced astigmatism in cataract surgery]. / Taille de l'incision et astigmatisme induit dans la chirurgie de la cataracte.

A study was carried out of postoperative astigmatism in three groups of 50 eyes which had had cataracts removed by phacoemulsification or by planned extracapsular removal through incisions of 3.5-4 mm, 7-7.5 mm, and 10-11 mm respectively. No statistically significant differences were observed in the average number of cases of astigmatism found 100 days after the operation in the patients in whom incisions of 10-11 mm (1.82 +/- 0.95 Dp) and 7-7.5 mm (1.78 +/- 0.90 Dp) were made. Appreciable differences were discovered when these two groups were compared with cases in which small incisions had been used and who presented a lower degree of astigmatism (1.02 +/- 0.59 Dp). To ensure less postoperative astigmatism after phacoemulsification, the size of the incision should be modified as little as possible during the insertion of the intraocular lens.

[Onset of Behçet's disease as meningoencephalitis and sudden blindness]. / Debut de la enfermedad de Behçet como meningoencefalitis y amaurosis súbita.

CASE REPORT: A 41-year-old man presented a clinical picture characterized by lymphocytic meningoencephalitis, visual loss in both eyes and transverse sinus thrombosis. This picture was treated with prednisone and anticoagulation. Fundus examination showed complete occlusive arteritis, periphlebitis, peripheral ischemia and perfusion macular defects affecting both eyes. The picture was suggestive of Behçet's disease. Azathioprine was added to the treatment without improvement in visual acuity. Four months later oral aphthous ulcers developed, confirming the suspected diagnosis. DISCUSSION: Behçet's disease may appear with the sudden onset of visual loss secondary to massive occlusive retinal vasculitis. The critical state of neuro-Behçet disease may delay the diagnosis. This combination of visual and neurological symptoms is associated with a poor visual prognosis (Arch Soc Esp Oftalmol 2002; 77: 275-278).

[Usher syndrome. Two case reports]. / Síndrome de Usher. A propósito de dos casos.

Usher's syndrome is an autosomal, recessively inherited trait that combines a congenital hearing impairment with retinitis pigmentosa. The AA. present the cases of two brothers affected. The actual classification and the last etiopathogenic theories are revised.

Combined nevus of the tarsal conjunctival.

We present an unusual case of combined nevus of the tarsal conjunctiva and eyelid margin in a pregnant woman who noticed morphological changes of the lesion during pregnancy. The patient underwent a wide full-thickness eyelid excisional biopsy including tarsal conjunctiva. Histopathologically, a subepithelial combined nevus (nevocellular and blue nevus) was observed. Conjunctival nevi are benign lesions with wide variation in clinical and histopathological features. Tarsal conjunctival involvement, as in the present case, is extremely rare (less than 1% of conjunctival nevi), especially the blue type nevus. Definitive diagnosis is possible only with excisional biopsy.

Calciphylaxis and bilateral optic neuropathy.

A 51-year-old woman on hemodialysis for chronic renal failure complained of visual loss in her right eye. Right optic disc edema was observed on fundus examination. An arteritic optic neuropathy was suspected. However, a first biopsy did not reveal any inflammatory cells. Two months later, the patient experienced sudden visual loss in her left eye and presented with necrotic cutaneous lesions at the distal phalanges of several fingers of the right hand. Necrotic lesions also appeared on the inner aspect of the thighs. Biopsy of the cutaneous lesions revealed calcification in the wall of a small artery. A new biopsy of the temporal artery showed large calcium deposits in the artery's tunica media. The diagnosis of optic neuropathy secondary to calciphylaxis was made. A temporal artery biopsy should be repeated if the first one is inconclusive. An early diagnosis leading to appropriate treatment may help to prevent an irreversible loss of vision in these patients.

Treatment of conjunctival squamous neoplasias with interferon alpha 2ab.

The classical approach to the treatment of squamous neoplasias of the ocular surface is based on surgical resection and cryotherapy. High rates of recurrence have been demonstrated if the margins are not free after the resection. Primary or adjuvant chemotherapy with mitomycin C (MMC) or 5-fluorouracil has been employed to treat these neoplasias, but severe side effects on the ocular surface have been described. Interferon (INF) alpha 2b is less toxic to the ocular surface. The experience in the treatment of conjunctiva-cornea intraepithelial neoplasia (CIN) with topical or intralesional INF alpha 2b is based on isolated cases or very short series. In this report, we review the published studies and include our personal experience. The safety and effectiveness of INF alpha 2b in the treatment of primary and recurrent cases of CIN are described. The absence of serious side effects after topical administration of INF alpha 2b leads to the recommendation of this modality of therapy for primary and recurrent cases of CIN.

Primary diffuse large B-cell lymphoma of the lower eyelid.

An 80-year-old woman presented with a palpable mass in the central right lower eyelid, with no visible alterations of the overlying skin or eyelid margin, and no signs of inflammation. Eversion of the eyelid revealed an ulcerating lesion approximately 8 mm in diameter, suggesting malignant lesion. Excision with eyelid reconstruction using the Hughes technique was performed. Histopathological analysis revealed a diffuse infiltrate with large atypical lymphocytes. Borders of the surgical resection were free from infiltration. Histochemical staining of the proliferating cells with monoclonal antibodies was positive for CD20 and CD79a, and polyclonal antibodies were positive for Lambda chains, confirming a diffuse large B-cell lymphoma. After 24 months' follow-up there has been no local or systemic recurrence of the disease. Lymphoma may present as an ulcerating lesion of the tarsal conjunctiva. Complete surgical excision, with no evidence of systemic disease, may be considered to carry a good prognosis and survival.

Apoprotein A and A-I profiles in subretinal fluid.

Previous reports have described the presence of apoproteins A in subretinal fluid (SRF). We studied the presence of total apoprotein A (apo A) and apoprotein A-I (apo A-I), using the method described by Laurel in SRF and its levels in serum in 20 patients with retinal detachment. By this method we can quantify the concentrations of apoproteins in SRF. All cases showed the presence of these apoproteins in SRF. The mean +/- standard deviation obtained was 78.7 +/- 26.94 mg/dl and 173.35 +/- 30.08 mg/dl for total apo A in SRF and serum respectively. For apo A-I these values were 32.62 +/- 14.36 mg/dl in SRF and 123.4 +/- 24.11 mg/dl in serum. We found no correlation between levels of total apo A and apo A-I in SRF and its levels in serum. Statistical differences were found between apo A-I content in SRF from detachments with the size of 3 quadrants and that of 1 and 2 quadrants but not between 3 and 4 quadrants. When the detachment affected 1 and 2 quadrants the concentrations of apo A-I were statistically lower. No statistical differences were found between concentrations of total apo A and apo A-I in SRF and the duration or presence of PVR in the detachments. These findings suggest that the outer blood retinal barrier is preserved during rhegmatogenous retinal detachment.