One-year follow up of a tobacco alcohol optic neuropathy case with atypical course: Conventional assessment and Laser speckle flowgraphy.

PURPOSE: To describe the unexpected one-year course of a probable Tobacco Alcohol Optic Neuropathy (TAON) and the unprecedented Laser Speckle Flowgraphy (LSFG) assessment. CASE REPORT: A 49-year-old Caucasian man with no family history of visual impairment referred because of unilateral and painless visual acuity (VA) decrease in the right eye (RE). Also, color vision and visual evoked potentials were unilaterally altered. Optical coherence tomography (OCT), instead, revealed bilateral thinning of the macular ganglion cell inner plexiform layer. Funduscopy, intraocular pressure, pupillary shape/reactivity and ocular motility were normal. Blood testing revealed macrocytic/normochromic anemia and low levels of vitamin B2 and folic acid. The patient admitted heavy tobacco and alcohol intake for many years. After an initial compliance to the prescribed regimen, the patient quitted the vitamin intake and resumed his smoking and drinking habits. After a 13-month follow up the VA further reduced in the RE; the fellow eye preserved normal visual function despite the bilateral and progressive alterations of the OCT assessment. Both eyes underwent LSFG examination. All the conventional nets evaluated by the instrument (i.e., Mean Tissue, Mean All and Mean Vascular perfusion) were lower in the RE. CONCLUSIONS: Based on patient's behavior, visual deficiencies and laboratory findings, we assumed that the patient suffered from TAON. Also after one year, however, a deep discrepancy between the strictly unilateral, progressive VA impairment and the bilateral, symmetrical OCT alterations persisted. The LSFG data clearly indicate that the perfusion of the two eyes differed, especially referring to tissular vascularization in the optic nerve head area of the RE.

Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.

PURPOSE: To report a new sporadic case of membrane frizzled-related protein gene (MFRP)-related syndrome with a 30-month follow-up, and to review the literature for genotype-phenotype correlation in MFRP mutations. METHODS: A complete ophthalmological evaluation was performed at presentation and 30 months later, including best-corrected visual acuity test, slit lamp examination, fundoscopy, kinetic perimetry, electroretinography, fundus imaging (color, red-free, and autofluorescence), and morphologic-biometric analysis of the eye structures with an optical biometer, anterior-segment optical coherence tomography, retinal optical coherence tomography, and a confocal scanning laser for optic nerve head study. Polymerase chain reaction amplification of DNA obtained from peripheral blood lymphocytes and nucleotide sequencing of the complete MFRP gene were performed. The literature on cases of posterior microphthalmos and retinitis pigmentosa associated with MFRP mutations was reviewed. RESULTS: A 33-year-old female patient presented with posterior microphthalmos, retinitis pigmentosa with patches of retinal pigmented epithelium atrophy and scarce pigment mobilization, foveoschisis, and optic nerve drusen. After 30 months, progression of rod-cone retinal degeneration was detected. One obligate carrier showed a normal eye phenotype. A homozygote mutation in the MFRP gene (c.492delC), predicting a truncated protein (P166fsX190), was identified with genetic analysis. To our knowledge, 17 cases of MFRP-related syndrome have been reported in the literature, including the patient described herein. The phenotype of the syndrome, expressivity, and age of onset varied among and within the affected families. However, all patients sharing homozygous mutation c.492delC (alternatively named c.498delC) showed a complete phenotype (including foveoschisis and optic nerve head drusen), and similar fundus characteristics. CONCLUSIONS: A new sporadic case of MFRP-related syndrome is reported. Review of the literature showed variability in the phenotype, but initial elements of genotype-phenotype correlation have been identified in patients sharing the mutation of the present case.

In vivo evaluation of DSAEK interface with scanning-laser confocal microscopy.

BACKGROUND: Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) allows selective replacement of the endothelium. Post-operative haze and particles can affect the interface quality and, ultimately, visual outcome. In this study, we evaluated DSAEK interface with in vivo laser confocal microscopy (LCM) in order to: (i) correlate interface status with best corrected visual acuity, and (ii) with time from surgery; (iii) correlate interface particle number with best corrected visual acuity. Host-donor interface was imaged and graded using a published reflectivity scale. Particles at the interface were counted. METHODS: 18 eyes of 16 patients (6 males and 10 females); mean age: 74 ± 8.3 years which underwent DSAEK were examined by means of in vivo laser confocal microscopy between 1 and 24 months after surgery. Host-donor interface was imaged and graded using a published reflectivity scale. Particles present at the interface were counted. RESULTS: Interface reflectivity was 2.17 ± 1.2 and significantly correlated with visual acuity (Spearman correlation coefficient -0.83; P < 0.001), and with time after surgery (Spearman correlation coefficient -0.87; P < 0.001). Visual acuity was 0.67 ± 0.27. The number of particles was 205 ± 117.8; no correlation was found between this number and visual acuity (Spearman correlation coefficient -0.41; P = 0.15). CONCLUSION: DSAEK interface imaged with LCM is helpful in diagnosing poor host-donor interface quality in DSAEK surgery. A good quality interface is related to a better visual acuity. Moreover, the quality of the interface appears to improve as time passes from the surgery. Interface quality is related with visual acuity and improves with time from surgery. LCM should be considered as an added tool in post-DSAEK follow-up of patients. Finally, our study shows that the presence of particles does not influence visual outcome.

Corneal thickness mapping by 3D swept-source anterior segment optical coherence tomography.

PURPOSE: To assess accuracy and repeatability of central corneal thickness (CCT) measurements obtained by swept-source anterior segment optical coherence tomography (AS-OCT), spectral-domain retinal OCT with corneal module and ultrasound pachymetry (USP), and to assess repeatability of pachymetric mapping with AS-OCT. METHODS: 50 healthy volunteers were recruited. A single, experienced operator analysed the right eye of each participant twice in the same session with AS-OCT ('corneal map' routine), retinal OCT and USP. CCT measurements were compared using repeated-measures analysis of variance, Bonferroni test, Pearson correlation and Bland-Altman plots. Repeatability of thickness maps and CCT measurements were assessed using Alpha of Cronbach, intraclass correlation coefficient (ICC) and coefficient of repeatability. RESULTS: Mean CCT±SD was 540±28.9 µm for AS-OCT, 544±29.5 µm for retinal OCT and 549.3±31.7 µm for USP; the differences were statistically significant (p<0.01). CCT measurements obtained with the three instruments were highly correlated: r was 0.965 for AS-OCT/USP, 0.962 for retinal OCT/USP and 0.984 for AS-OCT/retinal OCT comparison. The repeatability of CCT measurements was higher for AS-OCT than for the other devices (p<0.001). Repeatability of pachymetric maps was excellent (ICC=0.999). CONCLUSIONS: Pachymetric maps by swept-source AS-OCT showed excellent repeatability. CCT measurements obtained by AS-OCT, USP and retinal OCT were highly correlated although not identical.

Simultaneous Descemet stripping automated endothelial keratoplasty and aphakic iris-fixated intraocular lens implantation: a case series.

PURPOSE: To report 3 cases of simultaneous Descemet stripping automated endothelial keratoplasty (DSAEK) and aphakic iris-fixated intraocular lens (IOL) implantation in patients with aphakia and bullous keratopathy. METHODS: We retrospectively documented the clinical characteristics of patients before and after simultaneous DSAEK and aphakic iris-fixated IOL implantation undergoing operation between November 2008 and September 2009. RESULTS: None of the cases showed any intraoperative complications. During the postoperative period, the corneal lenticule was clear and well-attached, and the iris-fixated IOL was well-positioned. CONCLUSIONS: Simultaneous DSAEK and aphakic iris-fixated IOL implantation can be used successfully and simultaneously in patients with aphakia and bullous keratopathy.

Retinal thickness analysis with time and spectral-domain optical coherence tomography. Cross-platform interchangeability of manual measurements.

BACKGROUND AND AIM OF THE WORK: retinal thickness values obtained by automated analysis with new spectral-domain optical coherence tomography (OCT) devices exceed those measured by old time-domain OCTs. Aim of the present work is to assess reproducibility and comparability of manual measurements performed on both time-domain and spectral-domain OCT scans. METHODS: 6 eyes were scanned using Stratus OCT3 and Cirrus hd-OCT. Raw exported images were analyzed by ordinary computer software; multiple manual measurements of retinal thickness were taken at different eccentricities. Stratus Retinal Thickness (SRT) was measured from Internal Limiting Membrane (ILM) to the photoreceptors Internal-Outer Segment interface (IS/OS), while two series of measurements were performed in Cirrus images: CRT = Cirrus-RT (from ILM to the Retinal Pigment Epitelium, RPE) and cCRT = corrected-CRT (from ILM to IS/OS). Measurements were repeated twice in two eyes and reproducibility was assessed by Intra-Class correlation (ICC) and Coefficient of Variation (CV). Bland-Altman plots, paired t-test and ICC were used for comparative analysis between Stratus and Cirrus measurements. RESULTS: Mean SRT, CRT and cCRT values +/- SD were respectively 244.75 +/- 34.78 microm, 275.78 +/- 34.36 microm and 244.95 +/- 33.78 microm. Paired t-test resulted in p<0.0001 comparing SRT and CRT series, versus p=0.6544 between SRT and cCRT series. ICC was 0.65 between SRT and CRT and 0,94 between SRT-cCRT. Reproducibility of the measurements was excellent (CV=2,13% for Stratus and 1,62% for Cirrus; ICC=0,994 for both devices). DISCUSSION: while a systematic error affects comparison of Stratus and Cirrus macular thickness maps, manual linear measurements result interchangeable, hence allowing comparison of images acquired with either OCT systems. (www.actabiomedica.it).

Laser scanning in vivo confocal microscopy in a case of Terrien marginal degeneration.

PURPOSE: To describe corneal microstructural modifications in an early case of Terrien marginal degeneration by means of laser scanning in vivo corneal confocal microscopy. METHODS: A 20-year-old man affected by Terrien marginal degeneration in his right eye was examined with the Heidelberg Retina Tomograph 2 with a Rostock Cornea Module. The patient presented a corneal lesion with marked superior thinning and no clinical signs of inflammation. The left eye showed no clinical signs of degeneration. RESULTS: The right eye showed irregular Bowman's membrane, amorphous-appearing substance co-localizing with lipid exudation, and needle-like hyperreflective material in the affected peripheral corneal region. Abnormally scarce and branched sub-basal plexus nerves as well as numerous activated keratocytes, sometimes organized in hyperreflective nests, were observed in the central cornea of the same eye. Although the left eye was clinically unaffected, activated keratocytes were detected in its anterior central stroma. CONCLUSIONS: In vivo confocal microscopy supports the hypothesis of a mild inflammatory state with an atypical sub-basal nerve pattern in a patient affected by Terrien marginal degeneration. This new technique shows promise in studying this still elusive pathology.