An Update on Oculodermal Melanocytosis and Rare Associated Conditions.

Oculodermal melanocytosis (ODM) is a rare disease, which is characterized by hyperpigmentation of facial skin and several parts of the eye, such as the sclera, conjunctiva, cornea, iris, ciliary body, and choroid. The condition usually affects the Asian female population. The most typical presenting ocular sign is iris heterocromia. Iris hyperpigmentation may be associated with iris mammillations, which are dome-shaped protuberations of the iris surface. They are linked to a higher risk of malignant transformation when present in patients with ODM. Glaucoma is a complication of ODM and is caused by angle abnormalities or mechanical occlusion by melanocytes in an open irido-corneal angle. Choroidal and ciliary body melanoma have a higher incidence in this condition characterized by melanocytosis. Patients presenting ODM should undergo routine ophthalmological examination in order to carefully monitor for glaucoma and melanoma.

OPTICAL COHERENCE TOMOGRAPHY EVIDENCE ON THE CORRELATION OF CHOROIDAL THICKNESS AND AGE WITH VASCULARIZED RETINAL LAYERS IN NORMAL EYES.

PURPOSE: To correlate choroidal thickness (CT) and age with vascularized retinal layer and outer retinal layer thickness in normal eyes. METHODS: This was a prospective, cross-sectional study. Complete ophthalmological examination, biometry, and enhanced depth imaging spectral domain optical coherence tomography were performed. Choroidal and individual retinal layer thickness measurements were obtained. Thickness maps for all layers were evaluated using the 1 mm, 3 mm, and 6 mm early treatment diabetic retinopathy study (ETDRS) macular grid areas. RESULTS: One hundred and twenty eyes were included. Choroidal thickness correlated negatively with age in all ETDRS areas. The ganglion cell layer (GCL) in the 1 mm; the GCL and inner plexiform layer (IPL) in the 3 mm and 6 mm; and the GCL, IPL, and inner nuclear layer in the 6 mm areas correlated negatively with age and positively with CT. Retinal nerve fiber layer thickness in the 6 mm area correlated negatively with age. The retinal pigment epithelium-photoreceptor layer in all areas correlated negatively with age and positively with CT. CONCLUSION: In normal subjects, vascularized retinal layer thicknesses and outer retinal layer thickness correlate positively with CT and negatively with age. The role of neuronal versus vascular components should be considered when evaluating individual retinal layer thicknesses.

Spectral domain optical coherence tomography and B-scan ultrasonography in the evaluation of retinal tears in acute, incomplete posterior vitreous detachment.

BACKGROUND: The purpose of this study was to evaluate the extension and traction effects of posterior vitreous detachment (PVD) complicated with retinal tears using spectral domain optical coherence tomography (OCT) and B-scan ultrasonography. METHODS: Complete ophthalmological examination, B-scan ultrasonography and spectral domain OCT were performed in patients with acute PVD and retinal tears. Vitreous detachment was classified as complete or incomplete, based on extent of posterior pole or peripheral vitreous detachment. Retinal tear location and persistent traction on the retinal flap was evaluated with B-scan ultrasonography and OCT. Categorical data were evaluated with Fisher's exact test. Statistical significance was considered as P < 0.05. RESULTS: Twenty-six eyes of 25 patients were assessed. Four eyes (15 %) presented complete PVD with detachment at the posterior pole and periphery. 22 eyes (85 %) presented incomplete PVD with detachment in the periphery. Twenty eyes presented retinal tears in the superior quadrants with respect to only 6 in the inferior quadrants (p = 0.006). There was a higher incidence of retinal tears in the pre with respect to post-equatorial areas (19 vs 7 eyes, p = 0.019). B-scan ultrasonography and OCT revealed persistent traction on the retinal tear flap in 19 and 15 eyes, respectively. CONCLUSIONS: In acute PVD, retinal tears are prevalently associated with peripheral vitreous detachment. The impact of complete or incomplete PVD can be of clinical value when evaluating patients with retinal tears.

Spectral Domain Optical Coherence Tomography of Choroidal and Outer Retinal Layer Thickness in the Sturge Weber Syndrome.

PURPOSE: To evaluate choroidal thickness and its effect on the outer retinal layers in patients with Sturge Weber syndrome (SWS). MATERIALS AND METHODS: Twenty eyes of 10 patients with SWS and 20 eyes of 10 healthy controls were evaluated at the ophthalmology unit of the Umberto I Policlinic, Rome from December 2015 to May 2015. Manual segmentation measurements of choroidal and retinal pigment epithelium (RPE)-photorec eptor layer (PHL) thickness were performed at the subfovea and at 500 µm intervals over 3 mm-long horizontal and vertical segments using enhanced depth spectral domain optical coherence tomography. RESULTS: Mean choroidal thickness of the affected (561.6 µm ± 208.8) and fellow eyes (322.0 µm ± 56.6) of patients with SWS was significantly higher with respect to controls (266.5 µm ± 48.5 µm), p = 0.001 and p = 0.017, respectively. Mean RPE-PHL thickness was significantly lower in both the affected and fellow eyes of patients with respect to controls (p = 0.039 and p = 0.025, respectively). CONCLUSIONS: The choroid is thickened in patients with SWS, but the RPE-PHL is thinner. Choroidal thickening may lead to functional impairment causing disruption in the fine equilibrium between the choroid and retina and consequent outer retinal layer thinning.

Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?

The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. Other features linked to the port-wine stain and typical to all of the three conditions are glaucoma and choroidal alterations. Glaucoma can be due to malformations of the anterior chamber or high episcleral venous pressure and in phakomatosis pigmentovascularis it can also be associated with angle hyperpigmentation. The choroid can be thickened in all diseases. Furthermore, choroidal melanocytosis in the phakomatosis pigmentovascularis can lead to malignant transformation. Although the multiple pathophysiological mechanisms still require clarification, similarities in ophthalmic manifestations make it reasonable to classify these diseases in an independent group.

Correlation between spectral-domain optical coherence tomography findings and visual outcome after primary rhegmatogenous retinal detachment repair.

PURPOSE: To correlate the postoperative visual outcome with the spectral-domain optical coherence tomography (SD-OCT) findings in the fovea after successful rhegmatogenous retinal detachment repair. Cross-sectional, observational study. METHODS: Thirty-five patients with preoperative macula-on rhegmatogenous retinal detachment (12 eyes) and macula-off rhegmatogenous retinal detachment (23 eyes) who underwent scleral buckling surgery for primary rhegmatogenous retinal detachment were recruited. Early Treatment Diabetic Retinopathy Study best-corrected visual acuity measurement, microperimetry, and SD-OCT examination were performed on the same day. Foveal center retinal thickness, central 1-mm subfield thickness, and outer nuclear layer thickness were measured using SD-OCT. The presence or absence of epiretinal membrane, intraretinal fluid, and subretinal fluid was assessed. The status of the external limiting membrane, inner/outer segment junction, and intermediate line was also evaluated and judged as disrupted or complete. The correlations between SD-OCT findings and either postoperative best-corrected visual acuity or retinal sensitivities for central 12° were analyzed. RESULTS: The outer nuclear layer thickness was the only significant SD-OCT retinal measurement strongly correlated with both postoperative best-corrected visual acuity (r = 0.61; P < 0.001) and retinal sensitivities for central 12° (r = 0.53; P = 0.001). Among the SD-OCT imaging findings, status of the external limiting membrane, inner/outer segment junction, and intermediate line and the presence of intraretinal fluid showed a significantly high correlation either with best-corrected visual acuity outcome (r = -0.60; P < 0.001, r = -0.63; P < 0.001, r = -0.66; P < 0.001, and r = -0.50; P = 0.002, respectively) or with postoperative retinal sensitivities (r = -0.59; P < 0.001, r = -0.61; P < 0.001, r = -0.66; P < 0.001, r = -0.50; P = 0.002, respectively). Multivariate analysis showed that the outer nuclear layer thickness and the status of the intermediate line were the most important predictors of visual outcome (P < 0.001 and P < 0.001, respectively). CONCLUSION: This study showed that not only the status of the external limiting membrane and the inner/outer segment junction but also the integrity of the intermediate line and the outer nuclear layer thickness changes may be important predictors of postoperative visual outcome after anatomically successful rhegmatogenous retinal detachment repair.

Choroidal neovascularization in pathologic myopia: intravitreal ranibizumab versus bevacizumab--a randomized controlled trial.

PURPOSE: To compare the short-term efficacy and safety of intravitreal ranibizumab versus bevacizumab in treating myopic choroidal neovascularization (CNV). DESIGN: Prospective, comparative, randomized, interventional study. METHODS: Thirty-two eyes from 32 patients with myopic CNV were consecutively enrolled and randomly treated, in a 1:1 ratio, with intravitreal ranibizumab (0.5 mg) or bevacizumab (1.25 mg) as needed, after the first injection. ETDRS best-corrected visual acuity (BCVA), foveal center thickness (FCT) on optical coherence tomography (OCT), and fluorescein angiographic findings were examined before and after treatment. Patients were followed up for 6 months. RESULTS: No statistically significant difference in the BCVA improvement, as well as in the FCT reduction, was found between groups during follow-up (P value at 1, 3, 6 months > .05). Complete resolution of fluorescein leakage was observed in all 16 bevacizumab-treated eyes and in 15 out of 16 (93.7%) ranibizumab-treated eyes. No ocular or systemic adverse effects from treatment were encountered. CONCLUSION: This randomized clinical study cannot determine a statistically significant difference in anti-VEGF treatment effect between ranibizumab and bevacizumab for the treatment of CNV secondary to pathologic myopia. A larger study is required to determine the relative efficacy and duration of action of these drugs.