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Abstract 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 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.

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.

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).