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1.  Light-chain amyloidosis mimicking giant cell arteritis in a bilateral anterior ischemic optic neuropathy case 
BMC Ophthalmology  2013;13:82.
Herein we report a case of bilateral anterior ischemic optic neuropathy (AION) showing histopathologic evidence of AL-amyloidosis of the temporal arteries. It is known that light-chain (AL) amyloidosis may rarely affect the temporal arteries, mimicking giant cell arteritis, while, to our knowledge, the association between AL-amyloidosis and AION was not previously described.
Case presentation
A 64 year-old woman with AL-amyloidosis secondary to a monoclonal gammopathy of undetermined significance (MGUS) referred to our hospital for acute painless drop of vision due to bilateral AION. Age greater than 50 years, high erythrocyte sedimentation rate (ESR), and bilateral AION were suggestive of giant cell arteritis (GCA). However, a temporal artery biopsy excluded GCA, showing segmental stenosis of the lumen caused by amyloidosis of the artery wall.
The present case shows that AL-amyloidosis may present with AION, high ESR, and temporal artery involvement, mimicking GCA. In patients with monoclonal gammopathies, C-reactive protein may be a more specific index of GCA compared with the ESR. Patient medical history and pathology are crucial for a correct diagnosis.
PMCID: PMC3878227  PMID: 24359546
Ischemic optic neuropathy; Giant cell arteritis; Horton’s disease; Amyloidosis; Light-chain; Monoclonal gammopathy
2.  In vivo evaluation of DSAEK interface with scanning-laser confocal microscopy 
BMC Ophthalmology  2012;12:32.
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.
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.
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).
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.
PMCID: PMC3441224  PMID: 22853313
DSAEK; Interface; Laser corneal confocal microscopy
3.  Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients 
This study is the first comprehensive mutational analysis of all genes associated with nonsyndromic albinism, performed in combination with a detailed clinical ophthalmic evaluation of a large series of Italian patients with albinism.
The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation. Eighteen patients with distinct mutations in each gene associated with OCA were evaluated by detailed ophthalmic analysis, optical coherence tomography (OCT), and fundus autofluorescence.
Disease-causing mutations were identified in more than 95% of analyzed patients with OCA (28/45 [62.2%] cases with two or more mutations; 15/45 [33.3%] cases with one mutation). Thirty-five different mutant alleles were identified of which 15 were novel. Mutations in TYR were the most frequent (73.3%), whereas mutations in P occurred more rarely (13.3%) than previously reported. Novel mutations were also identified in rare loci such as TYRP1 and MATP. Mutations in the OA1 gene were not detected. Clinical assessment revealed that patients with iris and macular pigmentation had significantly higher visual acuity than did severe hypopigmented phenotypes.
TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency than that found in other populations. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation.
PMCID: PMC3101674  PMID: 20861488

Results 1-3 (3)