Retinal vascular density in multiple sclerosis: a 1-year follow-up.

BACKGROUND AND PURPOSE: Vascular pathology is increasingly acknowledged as a risk factor for multiple sclerosis (MS). Vascular density (VD) is reduced in the eyes of patients with MS on optical coherence tomography (OCT) angiography. We performed a 1-year prospective study to estimate VD variations over time and possible clinical correlates. METHODS: A total of 50 patients with MS underwent spectral domain-OCT and OCT angiography at baseline and after 1-year follow-up. Mixed-effect linear regression models were used to assess variations of each OCT measure and its relation to treatment and clinical outcomes. RESULTS: We observed an increase in parafovea VD (coefficient, 1.147; 95% confidence interval, 0.081-2.214; P = 0.035). Reduction in parafovea VD was associated with increase in Expanded Disability Status Scale score (coefficient, -0.969; 95% confidence interval, -1.732/-0.207; P = 0.013). CONCLUSIONS: Retinal VD can improve over time in MS, particularly in patients experiencing disease stability. Longer follow-up, inclusion of early MS cases and combination with conventional markers of MS severity (i.e. brain atrophy) are needed to better define VD as a potential new biomarker.

The value of multifocal electroretinography to predict progressive visual acuity loss in early AMD.

BACKGROUND: To investigate, in a prospective study, the role of multifocal electroretinography (mfERG) for predicting visual acuity decline in early age-related macular degeneration (AMD) with time. METHODS: Twenty-six early AMD patients (12 males and 14 females, mean age 66.9 ± 9.8; range 46-82 years) were included in the study. A complete ophthalmic examination and mfERG (Retiscan, Roland Germany, ISCEV standard protocol) were performed at the study entry (baseline), after 20 and 24 months. The first-order kernel mfERG responses were analyzed by ring analysis. The amplitude density (AD) of the first positive peak (P1, nV/deg(2)), the P1 amplitude (µV) and P1 implicit time (ms) for Rings 1 (central) to 6 (most peripheral) were evaluated. Data were statistically analyzed by analysis of variance and receiver operating characteristic (ROC) curves. RESULTS: The loss in the mfERG Ring 1 AD from normal control values, recorded at baseline, was correlated with the decrease in ETDRS visual acuity with time (P = 0.004). ROC analysis showed that, after 24 months, the average decline in visual acuity was greater (3 letters vs 0.4 letters, P = 0.0021) in patients whose Ring 1 P1 AD at baseline was equal to or less than 65.9 nV/deg(2), compared to those with higher AD values. Both P1 amplitude and AD of Ring 1 had an area under the curve of 0.702 (95% confidence interval 0.50-0.92) with a sensitivity of 64.3% (35.14-87.24%) and a specificity of 91.7% (61.52-99.79%). CONCLUSIONS: The present results indicate that mfERG P1 amplitude and AD of Ring 1 may be highly specific to predict visual acuity decline in early AMD.

Evaluation of choroidal tumors with optical coherence tomography: enhanced depth imaging and OCT-angiography features.

AimTo describe the vascular features of choroidal tumors using enhanced depth imaging (EDI), optical coherence tomography (OCT), and OCT-angiography.MethodsIn this prospective study, we evaluated 116 Caucasian patients with choroidal tumors (60 eyes with choroidal nevi, 40 with choroidal melanoma, 6 with choroidal hemangioma, 2 with optic disc melanocytoma, 6 with choroidal osteoma, and 2 with retinal metastases). Patients underwent a complete ophthalmic examination including bulbar echography, EDI-OCT, OCT-angiography, and multicolor imaging. Sixteen patients also underwent fluorescein and indocyanine angiography.ResultsThe left eye was more involved than the right eye. The mean tumor thickness was 1.23±0.17 mm in the 60 eyes with choroidal nevi; 2.75±0.83 mm in the 40 eyes with choroidal melanoma; 3.28±0.78 mm in the 6 eyes with retinal angioma; 2.02±0.001 mm in the 2 eyes with optic disc melanocytoma; 2.40±0.31 mm in the 6 eyes with choroidal osteoma; and last, 3.49±0.001 mm in the 2 eyes with retinal metastases. OCT-angiography showed: (i) a lack of blood flow in the outer retinal layer (ORL) and a normal choroid capillary layer in choroidal nevi and optic disc melanocytomas; (ii) a lack of blood flow in the ORL of choroidal metastases; and (iii) a dense irregular vascular network in the ORL and choroid capillary layers of choroidal melanomas, choroidal hemangiomas, and choroidal osteomas.ConclusionsOCT-angiography is a noninvasive reliable method with which to evaluate the vascularization of small choroidal tumors and may improve the diagnosis of these tumors.

Evaluation of the retinal nerve fibre layer and ganglion cell complex thickness in pituitary macroadenomas without optic chiasmal compression.

PURPOSE: The aim of this prospective study was to measure the thickness of the circumpapillary retinal nerve fibre layer (cpRNFL) and the ganglion cell complex (GCC) using spectral domain optical coherence tomography (SD-OCT) in a cohort of consecutive de novo patients with pituitary macroadenomas without chiasmal compression. PATIENTS AND METHODS: Twenty-two consecutive patients with pituitary macroadenoma without chiasmal compression (16 men, 6 women, aged 45.2±14.6 years, 43 eyes) entered the study between September 2011 and June 2013. Among them, 31.8% harboured a growth hormone-secreting pituitary adenoma, 27.3% a prolactin-secreting pituitary adenoma, 27.3% a corticotrophin-secreting pituitary adenoma, and 13.6% a non-secreting pituitary tumour. Eighteen subjects (nine females, nine males, mean age 36.47±6.37 years; 33 eyes) without pituitary adenoma, with normal ophthalmic examination, served as controls. In both patients and controls, cpRNFL and GCC thicknesses were measured by SD-OCT. RESULTS: Patients were significantly older (P=0.02) than controls. Best corrected visual acuity, intraocular pressure, colour fundus photography, and automatic perimetry test were within the normal range in patients and controls. Conversely, cpRNFL (P=0.009) and GCC (P<0.0001) were significantly thinner in patients than in controls. The average GCC (r=0.306, P=0.046) significantly correlated with the presence of arterial hypertension. OCT parameters did not differ significantly between patients with a tumour volume above the median and those with a tumour volume below the median. CONCLUSION: Pituitary macroadenomas, even in the absence of chiasmal compression, may induce GCC and retinal nerve fibre layer thinning. SD-OCT may have a role in the early diagnosis and management of patients with pituitary tumours.

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

PURPOSE: To assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM). METHODS: Eleven families from southern Italy, including 18 patients with diagnoses of STGD1, were clinically examined. Ophthalmologic examination included kinetic perimetry, electrophysiological studies, and fluorescein angiography. DNA samples of the affected individuals and their family members were analyzed for variants in all 50 exons of the ABCR gene by a combination of single-strand conformation polymorphism analysis and direct sequencing techniques. RESULTS: TenABCR variants were identified in 16 (73%) of 22 mutant alleles of patients with STGD1. Five mutations of 10 that were found had not been previously described. The majority of variants represent missense amino acid substitutions, and all mutant alleles cosegregate with the disease in the respective families. These ABCR variants were not detected in 170 unaffected control individuals (340 chromosomes) of Italian origin. Clinical evaluation of these families affected by STGD1 showed an unusually high frequency of early age-related macular degeneration (AMD) in parents of patients with STGD1 (8/22; 36%), consistent with the hypothesis that some heterozygous ABCR mutations enhance susceptibility to AMD. CONCLUSIONS: Patients from southern Italy with Stargardt disease show extensive allelic heterogeneity of the ABCR gene, concordant with previous observations in patients with STGD1 from different ethnic groups. Half the mutations identified in this study had not been previously described in patients with STGD1. Screening of increasingly large numbers of patients would help to determine whether this can be explained by ethnic differences, or is an indicator of extensive allelic heterogeneity of ABCR in STGD1 and other eye diseases. In 6 (55%) of 11 families, the first-degree relatives of patients with STGD1 were diagnosed with early AMD, supporting the previous observation that some STGD1 alleles are also associated with AMD.

Retinal degeneration associated with ectopia lentis.

Two brothers had retinal degeneration, lens subluxation, and myopia since early life. There was no evidence of Marfan syndrome, homocystinuria, or other systemic disease. They had nystagmus, myopia, inferior dislocation of the lens, and posterior subcapsular opacities in both eyes. Fundus examination showed attenuated retinal vessels, macular atrophy with occasional pigment accumulation as clumps, and perivascular sleeves. Electroretinography revealed decreased photopic and scotopic responses. The visual fields were constricted. We believe this to be the first report of retinal degeneration with bilateral lens subluxation in a family. It appears to be inherited in an autosomal recessive fashion.

Choroidal osteoma (osseous choristoma): an atypical case.

A case of choroidal osteoma presenting in a 22-year-old girl is reported. The tumour, unilateral and in a juxtapapillary site, appeared markedly elevated on the retinal plane, not flat or slightly elevated as in previous reports. Visual acuity was not affected, and there was a complete absence of subjective symptoms. Echography, fluorangiography, computerised tomography, and visual field tests were performed. Echography is the best method for identifying and differentiating this lesion from a malignant tumour.

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

AIMS: To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene. METHODS: Complete ophthalmic examinations, electroretinography and A and B-scan standardised echography were performed in 18 affected males. The coding sequences of the XLRS1 gene were amplified by polymerase chain reaction and directly sequenced on an automated sequencer. RESULTS: Six different XLRS1 mutations were identified; two of these mutations Ile81Asn and the Trp122Cys, have not been previously described. The affected males showed an electronegative response to the standard white scotopic stimulus and a prolonged implicit time of the 30 Hz flicker. In the families with Trp112Cys and Trp122Cys mutations we observed a more severe retinoschisis (RS) clinical picture compared with the other genotypes. CONCLUSION: The severe RS phenotypes associated with Trp112Cys and to Trp122Cys mutations suggest that these mutations determine a notable alteration in the function of the retinoschisin protein.

[Multiple bilateral pigmented epithelium detachments or atypical vitelliform degeneration? (author's transl)]. / Soulèvements multiples et bilatéraux de l'épithélium pigmentaire ou atypique dégénérescence vitelliforme?

A case of bilateral multiple pigment epithelium detachments in a 36 year old man is reported. The value of E.R.G., E.O.G. and fluorescein angiography in the differential diagnosis between multiple serous detachments of the pigment epithelium and multiple vitelliform degeneration is stressed.

[Ataxia-telangiectasia: an optic and electron morphocytologic study of a conjunctival biopsy]. / Ataxie-télangiectasie: étude morphocytologique optique et électronique d'une biopsie conjonctivale.

The authors present a case of ataxia-telangiectasia also known as Louis-Bar Syndrome. The rarity of the disease and the dearth of extensive literature about the subject submitting this particular case to optic and electronic study and to report the results. The description, that comes out from our histologic and submicroscope study of the conjunctiva, attests the change of the conduct, of the diameter and conjunctival flow of the microvessels. This, in turn touches upon the cytological question behind the cause of changes in the relationships of vessels and surrounding tissues.

Evaluation of retinal nerve fiber layer and ganglion cell complex thickness after ocular blunt trauma.

PURPOSE: To evaluate circumpapillary retinal nerve fiber layer (cpRNFL) and ganglion cell complex (GCC) after ocular blunt trauma. METHODS: Best-corrected visual acuity (BCVA), cpRNFL and GCC were evaluated by RTVue-100 OCT in all consecutive patients with previous monocular blunt trauma seen between January 2012 and December 2012. RESULTS: Twenty-two patients (11 females, 11 males, mean age 43.9 ± 14.2 years) were included in the study. Patients were seen after a mean of 8.42 ± 13.3 (range, 0.08-55.3) years from ocular blunt trauma. BCVA was normal in 11 cases and was less than 0.4 LogMAR in all cases. In 9/22 patients (40.9%), cpRNFL and GCC were reduced, whereas in one case an isolated reduction of GCC with normal cpRNFL was present. In patients with reduction of cpRNFL and GCC, mean BCVA was 0.17 ± 0.17 LogMAR. In 6/9 patients (66.6%) with cpRNFL and GCC reduction, BCVA was ≤ 0.1 LogMAR. CONCLUSION: cpRNFL and GCC reduction may be present after ocular blunt trauma and may be associated with preserved visual acuity.

Retinal angiomatous proliferation.

Retinal angiomatous proliferation (RAP) is a distinct form of choroidal neovascularization which may complicate a wet age related macular degeneration (AMD). This exudative-AMD has a peculiar clinical history and prognosis. RAP accounts from 8% to 22% of newly diagnosed cases among patients previously diagnosed as exudative AMD, and up to 25% of the occult or minimally classic CNV. The disease is more prevalent in women (90% of cases) and in elderly patients (around 75 years), and is characterized by a very poor prognosis. The neovascular process, whose retinal or choroidal origin is still object of discussion, often hesitates in the formation of a disciform scar, that evolves into a severe loss of central vision. Treatment for RAP is not yet well established; herein are described the most used therapeutic strategies, starting from laser photocoagulation until the nearest anti VEGF. The opportunity of combination among various treatments to obtain a better effectiveness and a lower frequency of recurrence is also discussed.

Polypoidal choroidal vasculopathy: recent advances in therapy.

Polypoidal Choroidal Vasculopathy (PCV) is a condition characterized by chronic, multiple, recurrent serous and/or hemorrhagic detachments of the retinal pigment epithelium (RPE) and neurosensory retina. Although it has been described to more often affect Asians and individuals of pigmented races, PCV may also be present in white patients who present with the clinical appearance of age related macular degeneration (AMD). PCV and its treatment are discussed, including the use of combination therapy.

Intravitreal bevacizumab vs intravitreal triamcinolone combined with macular laser grid for diffuse diabetic macular oedema.

OBJECTIVE: To evaluate the 12-month clinical outcome of patients with persistent non-ischaemic diffuse diabetic macular oedema (DME) treated with intravitreal bevacizumab (IVB) or with intravitreal injection of triamcinolone combined with macular laser grid (IVTA-MLG) from September 2005 to February 2008. METHODS: Retrospective interventional comparative study. Best-corrected visual acuity (BCVA, ETDRS LogMAR scale) and foveal thickness (FT) at optical coherence tomography (OCT) were obtained at baseline and during 12 months after first treatment. Re-treatment was based on clinical or OCT-based evidence of persistent macular oedema or deterioration in visual acuity. RESULTS: Forty-three eyes (32 patients) with DME were treated with IVB. Ninety-six eyes (52 patients) with DME were treated with combined laser grid treatment and intravitreal triamcinolone. At baseline, mean BCVA and FT were 0.92+/-0.34 LogMAR and 372+/-22 microm in the IVTA-MLG group, and 1.07+/-0.49 LogMAR and 423+/-33 microm in the IVB group, respectively. At 1- and 3-month visits, BCVA and FT had significantly improved in both groups. After 6 and 12 months, the IVB group experienced a statistically significant improvement in visual acuity (0.83+/-0.21 LogMAR, P<0.001 at 6 months; BCVA 0.86+/-0.24 LogMAR, P<0.001 at 12 months) and FT (248+/-18 microm, P<0.001 at 6 months; 262+/-28 microm, P=0.001 at 12 months) when compared with baseline, whereas the IVTA-MLG group did not show statistically significant improvement in vision and FT. An increase in intraocular pressure (IOP) was present in 10 of 96 (10.4%) eyes treated with IVTA-MLG, and in two cases it was resistant to topical treatment. No significant side effects were reported in the IVB group. CONCLUSIONS: At 6 and 12 months after first treatment for chronic DME IVB provided significant improvement of BCVA and FT, whereas improvement after IVTA-MLG was not significant. Increased IOP occurred in 10.4% of patients who received IVTA, with two patients requiring trabeculectomy.

Comparison of time domain Stratus OCT and spectral domain SLO/OCT for assessment of macular thickness and volume.

PURPOSE: To compare retinal thickness and volume measurements obtained with Stratus time domain optical coherence tomography (OCT) and spectral domain scanning laser ophthalmoscope OCT (SD-SLO/OCT). METHODS: In a cross-sectional study, 52 eyes with a normal macula, 30 eyes with retinal oedema, and 10 eyes with a myopia higher than 6 D have been evaluated with both time domain OCT (TD-OCT, Stratus OCT, Carl Zeiss Meditec, USA) and SD-SLO/OCT (OTI, Toronto, Canada). Retinal thickness and volume measurements in the nine areas of the 6-mm ETDRS ring were compared. Artefacts were defined as the discordance between the automatically detected anterior and posterior retinal boundaries and the boundaries detected by the examiner. RESULTS: Artefacts were more frequent with TD-OCT (35 vs26%). Mean retinal thickness was significantly higher with SD-SLO/OCT by 30.1 microm (+/-25.8) (P=0.003) in presence of the artefacts and by 39.2 microm (+/-25.8) (P=0.003) after their exclusion. The correlation between the two retinal thickness data sets before exclusion of the artefacts (r=0.59, P<0.001) increased after their removal (r=0.84, P<0.001). A strong correlation was present between the two retinal volume data sets before (r=0.94, P<0.001) and after exclusion of the artefacts (r=0.96, P<0.001). CONCLUSIONS: SD-SLO/OCT produced fewer artefacts than Stratus TD-OCT. This could be attributed to the greater resolution and acquisition speed of SD-SLO/OCT. The macular retinal thickness values measured with SD-SLO/OCT were significantly higher than those measured with Stratus TD-OCT. Retinal volumes measured with Stratus TD-OCT and SD-SLO/OCT were strongly correlated.

Evaluation of peripapillary detachment in pathologic myopia with en face optical coherence tomography.

BACKGROUND: A newly recognized lesion in pathologic myopia is peripapillary detachment of the retinal pigment epithelium (RPE) and retina. Recently introduced en face optical coherence tomography (OCT) provides not only cross-sectional but also coronal scans of the retina, and allows lateral extent visualization and thickness measurement of lesions. METHODS: Three patients presenting bilateral peripapillary yellow-orange lobulated area in high myopia have been evaluated with fluorescein angiography (FA), indocyanine green angiography (ICGA), en face OCT (OCT/SLO; Ophthalmic Technologies Inc, Toronto, Canada), and Humphrey visual field analyzer. RESULTS: In all eyes, en face OCT has shown the presence of a peripapillary sub-RPE nonreflective area. The lateral extent of this area was clearly detectable and the measurement of its thickness was obtained. We detected a cleft in the RPE at one edge of the cavitation in two eyes, vascular tractions and vitreoretinal tractions in two eyes, a macular hole with posterior retinal detachment, and small areas of RPE detachment nonconnected with the peripapillary detachment in one eye. In the four eyes presenting a proper central fixation, glaucomatous visual field defects were evident. CONCLUSION: En face OCT has allowed to evaluate the thickness and the lateral extent of the peripapillary detachment. Therefore, its use could be important in determining the size and grading of these lesions at first visit, and to detect minimal changes of width and thickness during follow-up as an alternative to fluorescein angiography.

Visualization of vitreomacular tractions with en face optical coherence tomography.

BACKGROUND: In vitreomacular traction syndrome, an incomplete vitreous detachment with persistent vitreous traction on the macula is present. This condition may determine formation of epiretinal membranes, macular puckering, macular oedema, and traction macular detachment. Recently introduced en face optical coherence tomography (OCT) provides not only longitudinal B-scan but also coronal C-scan images of the retina. METHODS: Fifteen eyes of 11 non-diabetic patients presenting vitreomacular traction syndrome have been evaluated with en face OCT (OTI, Toronto, Ontario, Canada). RESULTS: In 12 eyes, cystoid macular oedema was detectable at fundus examination and was associated with a broad-based adherence of the posterior hyaloid to the macula. In three eyes, foveal detachment appeared to be associated with focal foveal vitreoretinal traction. In all eyes, the lateral extent of the hyaloidal tractions on the macula was clearly detectable at coronal C-scan. They appeared as sigmoid hyper-reflective bands in the hyporeflective vitreous chamber. Overlay of C-scans on red-free confocal images allowed the visualization of the edges of the adherences in relation to the structures of the posterior pole. CONCLUSIONS: The C-scan images allowed clear visualization of the total extension of the posterior vitreomacular adherences and their relationships with the vascular arcades, the optic disc, and the fovea.