The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient.

The onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA mutation, present in heteroplasmy, associated with the disease. A patient follow-up showed a rapid recovery of the vision accompanied by a decrease of the percentage of mutated mtDNA. A retrospective study on the age of recovery of all childhood-onset Leber hereditary optic neuropathy patients reported in the literature suggested that this process was probably related with pubertal changes.

Axonal Injury in the Lateral Geniculate Body: Radiological Diagnosis.

Damage to the lateral geniculate body by diffuse axonal injury in brain trauma is uncommon. The authors present the clinical case and in vivo fibre tractography using diffusion tensor magnetic resonance imaging of this lesion in a patient presenting with homonymous sectoranopia after a traumatic head injury.

En face mode of swept-source optical coherence tomography in circumscribed choroidal haemangioma.

PURPOSE: To describe the findings in circumscribed choroidal haemangioma (CCH) using en face swept-source optical coherence tomography (SS-OCT). METHODS: En face images were obtained employing DRI-1 Atlantis OCT (Topcon, Tokyo, Japan), using a three-dimensional volumetric scan of 12×9 mm. Images were obtained from the retinal pigment epithelium to 1000 µm in depth of the tumour. RESULTS: Twenty-two eyes from 22 patients with the clinical diagnosis of CCH were included. In 20 eyes (90.9%), a characteristic pattern was visualised in the en face image across the vascular tumour. A multilobular pattern, similar to a honeycomb, with hyporeflective, confluent, oval or round areas corresponding with the lumen of the tumour vascular spaces, and hyper-reflective zones, which may represent the vessels walls and connective tissue of the tumour. Ten eyes (45.4%) showed a hyper-reflective halo surrounding the tumour. Seventeen tumours (77.2%) showed small diameter vessels at the inner zone and larger vessels in the outer area. Twelve patients (54.5%) had previously received treatment (photodynamic therapy, transpupillary thermotherapy, dexamethasone intravitreal implant or brachytherapy with ruthenium-106). No differences were found between treated and untreated patients in any of the measured parameters. CONCLUSIONS: En face SS-OCT is a rapid, non-invasive, high-resolution, technology, which allows a complementary study to cross-sectional scans in CCH. A characteristic multilobular pattern, with a hyper-reflective halo surrounding the tumour, was found in en face SS-OCT images. No morphological differences were found between naïve patients and patients who received previous treatment.

INTRAVITREAL DEXAMETHASONE IMPLANT FOR RADIATION MACULOPATHY SECONDARY TO PLAQUE BRACHYTHERAPY IN CHOROIDAL MELANOMA.

PURPOSE: To evaluate the efficacy of intravitreal dexamethasone implant 0.7 mg (Ozurdex) in radiation maculopathy secondary to plaque brachytherapy in choroidal melanoma. METHODS: Twelve eyes diagnosed of radiation maculopathy secondary to plaque brachytherapy and treated with intravitreal dexamethasone implant were included. Visual acuity, foveal thickness using spectral domain optical coherence tomography, and grade of macular edema, using Horgan classification, were evaluated. RESULTS: Mean age was 65.5 ± 28 years (range, 40-82 years). Mean follow-up was 8.2 ± 7.8 months (range, 2-28 months). Mean visual acuity before treatment was, in logarithm of the minimum angle of resolution scale, 1 ± 0.58 (range, 0.4-2) and mean final visual acuity 0.8 ± 0.58 (range, 0.2-2), showing a nonsignificant trend to improvement (P = 0.091; Wilcoxon's test). Foveal thickness before treatment was 416 ± 263 µm (range, 222-725 µm) and final foveal thickness 254 ± 170 µm (range, 145-750), showing a significant decrease (P = 0.016; Wilcoxon's test). Referring to Horgan classification, a significant reduction in grades before and after treatment was demonstrated (P = 0.007; Wilcoxon's test). CONCLUSION: Ozurdex is a useful treatment for radiation maculopathy associated to plaque brachytherapy for uveal melanoma, with a significant decrease in foveal thickness and a significant improvement in Horgan classification. This anatomical improvement was correlated with a moderate improvement in visual acuity.

Sequential bilateral retinal artery occlusion.

An 86 year old woman experienced a sequential bilateral loss of vision over a period of less than 24 hours. Clinical findings and complementary studies suggested a bilateral atherogenic embolic event. Initially, she presented a superior branch retinal artery occlusion in her right eye followed by a central retinal artery occlusion with cilioretinal artery sparing in her left eye. Some conservative maneuvers performed did not improve visual acuity in the left eye. Supra-aortic Doppler ultrasonography revealed mild right internal carotid artery stenosis and moderate left internal carotid artery stenosis with a small, smooth, and homogeneous plaque. The transthoracic echocardiography showed a severe calcification of the mitral valve with a mild-moderate rim of stenosis. Central retinal artery occlusion and branch retinal artery occlusion are characterized by painless monocular loss of vision. Clinical approach and management attempt to treat the acute event, find the source of the vascular occlusion, and prevent further vascular events from occurring. Giant cell arteritis is a potentially treatable cause of central retinal artery occlusion and should be excluded in every single patient over 50 years old.

Subthreshold transpupillary thermotherapy in management of foveal subretinal fluid in small pigmented choroidal lesions.

PURPOSE: To evaluate the effect of subthreshold transpupillary thermotherapy (sTTT) in foveal subretinal fluid of small pigmented choroidal lesions. METHODS: Retrospective, noncomparative, interventional case series. We reviewed patients with small pigmented choroidal lesions presenting foveal subretinal fluid and treated with sTTT to evaluate fluid regression. RESULTS: We treated 13 patients with small pigmented choroidal lesions with a mean height of 2.02 ± 0.54 mm (range, 1.4-2.9 mm) and a mean largest diameter of 7.60 ± 1.98 mm (range, 5-11 mm). In 11 cases, foveal subretinal fluid was completely resolved (84.6%), with a mean follow-up of 42.46 ± 26.29 months (range, 12-103 months). The mean number of sTTT sessions applied was 1.38 ± 0.77 (range, 1-3 sessions), at a mean spot size of 1,570.59 ± 795.1 µm (range, 500-3,000 µm), and overall exposure time of 2.32 ± 1.2 minutes (range, 1-6 minutes). Mean laser power applied was 370.63 ± 162.87 mW (range, 200 to 600 mW). Best-corrected visual acuity at the time of diagnosis was maintained or improved in 69.3% of patients after sTTT treatment. During follow-up, tumor progression was reported in 5 cases, regardless of the presence of subretinal fluid. These cases were treated promptly with brachytherapy. CONCLUSION: However, sTTT may be effective in solving foveal subretinal fluid in small pigmented choroidal lesions, attaining satisfactory visual acuity in most cases.

Relative survival of patients with uveal melanoma managed in a single center.

To assess the 5-year relative survival of patients diagnosed with uveal melanoma (UM) in a single center. UM patients were recruited from 1995 to 2004 (N = 155) and were followed until December 2008. Relative survival (RS) methods were used to assess excess mortality. An RS regression model was fitted by sex, age, tumor origin, treatment, and tumor size to estimate the excess hazard rate (EHR) of death from UM. The overall 5-year RS was 90%, lower in women (84.6%) than in men (100%), lower in patients older than 60 years (88.8%) compared with those younger than or of 60 years of age (94.8%). Large tumors (80.8%) showed lower RS than medium (95.1%) and small ones (98.3%). Enucleated patients (80.5%) had lower RS compared with those who received brachytherapy (93.6%) and other treatments (94.7%). A significant EHR was found for women (EHR: 3.65), patients older than 60 years (EHR: 2.25), large-sized melanoma (EHR: 2.45), and during the third (EHR: 5.37) and fourth year (EHR: 3.01) of follow-up. This is the first Spanish study in a single center reporting RS among UM patients, taking into account clinical characteristics. Prognostic factors that explained RS among UM patients were sex, age, tumor size, and the year of follow-up. We also found a peak of excess mortality from the third until the fourth year after diagnosis, which warrants strict follow-up of these patients during this time interval.

Intravitreal ranibizumab for choroidal neovascularization secondary to pathological myopia: 12-month follow-up.

PURPOSE: To evaluate the efficacy and safety of intravitreal ranibizumab in the treatment of choroidal neovascularization (CNV) due to pathological myopia (PM). METHODS: This retrospective case series studied outcomes in patients with CNV secondary to PM who were treated with intravitreal ranibizumab. Patients underwent complete ophthalmic evaluation, which included best-corrected visual acuity testing measured with Early Treatment Diabetic Retinopathy Study charts, optical coherence tomography (OCT) and baseline fluorescein angiography (FA). Indications for retreatment included the persistence of subretinal fluid on OCT as well as hemorrhages and new CNV on FA. Patients were followed for a minimum of 12 months. RESULTS: We treated 29 eyes in 29 patients; the mean age was 56.8 years. Thirteen eyes were naïve, while 16 had been previously treated with photodynamic therapy or intravitreal bevacizumab. The mean initial visual acuity was 44.8 letters; at the 12-month follow-up, it was 53.7 letters. The mean OCT foveal thickness decreased by 35.3 µm. Patients received an average of 1.38 injections. Statistically significant differences were observed both in visual acuity and in central foveal thickness. All subgroups had favorable outcomes. None of the patients developed injection-induced complications or drug-related side effects. CONCLUSION: Intravitreal injection of ranibizumab appears to be safe and efficacious in patients with CNV secondary to PM followed over a 12-month period.

Presence of Erdheim-Chester disease and Langerhans cell histiocytosis in the same patient: a report of 2 cases.

The histiocytic disorders Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD), can both present with multisystem involvement, with the central nervous system and the bone, skin, neuroendocrine, cardiac, respiratory, and gastrointestinal systems potentially affected. The 2 entities occasionally can be difficult to distinguish. Both rarely affect the orbit and the central nervous system, and although there are rare reports of patients with coexistent LCH and ECD, there are no reported cases of the 2 diseases that involve both the orbital and neuroendocrine systems. We report 2 such cases, and review the literature of cases of LCH and ECD occurring in the same patient. The presentation of LCH and ECD in certain patients suggests a possible abnormality in the common CD34 progenitor cell. The coexistence of the 2 disease states should be suspected in patients with atypical presentations of either disorder.

Unilateral Decompression Retinopathy After Laser Iridotomy in a Patient with Bilateral Acute Angle-Closure Glaucoma.

Acute angle closure glaucoma is an ocular pathology characterized by a severe increase of intraocular pressure (IOP) that requires the realization of a peripheral Nd:YAG laser iridotomy as a treatment. Several complications have been described after a peripheral laser iridotomy such as hyphema, endothelial corneal damage, intraocular pressure spikes or cataract. Furthermore, retinal and subhyaloid haemorraghes have been observed after the treatment. This uncommon finding has been named decompression retinopathy. The case of an unilateral decompression retinopathy in a 67-year-old woman after the resolution of a bilateral episode of acute angle closure glaucoma was presented.

Reversibility of cataracts in diabetes.

The article by Ramkumar and Basti: "Reversal of Bilateral Rosette Cataracts with Glycemic Control", published in TheScientificWorldJournal, Vol 8 1150-1151, describes the acute onset of a bilateral cataract related to the onset of diabetes, and the eventual reversal of the lens opacities after accomplishing a fall in blood glucose levels with insulin therapy. Reports of this ocular manifestation of diabetes, also called "acute sugar cataract", are scarce. The case reported emphasises that in patients developing an acute cataract, a systemic evaluation should be done to rule out diabetes mellitus or other metabolic disorders. In addition, because of the potential reversibility of this type of cataract, in most instances surgical procedures will be unnecessary.

Malignant hypertension: ocular manifestations.

Malignant hypertension may be the first manifestation of systemic hypertension. We report a clinical case of a Caucasian 41-year-old man with no previous history of blood hypertension seen at casualty because of blurred vision. Fundus examination disclosed optic disk swelling, retinal hemorrhages and infarcts. The blood pressure was 220/130 mmHg. After the appropriate management of hypertension, optic disk and retinal edema resolved, leaving minor changes as mild optic disk pallor and hard exudates.