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PurposeThis study reports the clinical features and genetic bases of 3 previously unreported families with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD).DesignObservational case series.MethodsFull ophthalmic assessment was performed for members of 3 unreported families with PPPCD. Structural and biomechanical alterations of the cornea were screened. Whole exome sequencing (WES) was performed in the first family. Novel or rare variants that segregated with the affected status were screened in the other 2 families using Sanger sequencing. Identified variants that segregated with the affected status in all families were characterized by using in silico prediction tools and/or in vitro splice assays. Additionally, 2 previously reported PPPCD families were screened for variants identified in the 3 unreported PPPCD families.ResultsPPPCD was diagnosed in 12 of the 21 examined members of the 3 unreported families. The only refractive, topographic, or biomechanical abnormality associated with PPPCD was a significantly increased corneal stiffness. WES and Sanger sequencing identified 2 variants that segregated with the affected status in all 3 families: a rare intronic PDZD8 c.872+10A>T variant and a novel missense PRDX3 c.568G>C (p.Asp190His) variant. The same PRDX3 variant was identified in the previously reported PPPCD family expressing the common PPPCD phenotype and was predicted by in silico prediction tools to be damaging to protein function.ConclusionsPPPCD is associated with an alteration of corneal biomechanics and a novel missense variant in PRDX3. Screening of additional families will determine whether all families demonstrate a PRDX3 variant or whether locus heterogeneity may exist for PPPCD.

To determine the safety and feasibility of human autologous adipose tissue-derived adult mesenchymal stem cells (ASCs) for ocular surface regeneration in patients with bilateral limbal stem-cell deficiency (LSCD). A phase IIa clinical trial was designed (, NCT01808378) with 8 patients, 3 of whom had aniridia, 2 meibomian glands diseases, 2 multiple surgeries and 1 chronic chemical injury. The therapeutic protocol was as follows: 6-mm of central corneal epithelium was removed, 400,000 ASCs were injected into each limboconjunctival quadrant, 400,000 ASCs were suspended over the cornea for 20 min, and finally the cornea was covered with an amniotic membrane patch. No adverse events were detected after a mean of 86,5 months of follow-up. One year after surgery, 6 of the 8 transplants were scored as successful, five patients had improved uncorrected visual acuity (mean of 12 letters), two patients presented epithelial defects (also present at baseline) and the mean percentage of corneal neovascularization was of 28.75% (36.98%, at baseline). Re-examination 24 months after treatment disclosed preserved efficacy in 4 patients. At the last visit (after a mean of 86,5 months of follow up) epithelial defects were absent in all patients although improvement in all of the variables was only maintained in patient 3 (meibomian glands agenesia). ASCs are a feasible and conservative therapy for treating bilateral LSCD. The therapeutic effect differs between etiologies and diminishes over time. [ABSTRACT FROM AUTHOR]

Posterior polymorphous corneal dystrophy (PPCD), a rare, bilateral, autosomal-dominant, inherited corneal dystrophy, affects the Descemet membrane and corneal endothelium. We describe an unusual presentation of PPCD associated with a previously unknown genetic alteration in the ZEB1 gene. The proband is a 64-year-old woman diagnosed with keratoconus referred for a corneal endothelium study who presented endothelial lesions in both eyes suggestive of PPCD, corectopia and iridocorneal endothelial synechiae in the right eye and intrastromal segments in the left eye. The endothelial count was 825 in the right eye and 1361 in the left eye, with typical PPCD lesions visible under specular and confocal microscopy. In the next generation sequencing genetic analysis, a heterozygous c.1A > C (p.Met1Leu) mutation was found in the ZEB1 gene (TCF8). The PPCD3 subtype is associated with corneal ectasia, and both can appear due to a pathogenic mutation in the ZEB1 gene (OMIM #189909). However, our patient had a previously unreported mutation in the ZEB1 gene, which mediates the transition between cell lines and provides a pathogenic explanation for the epithelialisation of the corneal endothelium, a characteristic of PPCD. [ABSTRACT FROM AUTHOR]

Purpose: To report a case of cancer-associated retinophaty (CAR) treated with intravenous immunoglobulin (IGIV) and review the use of IGIV in the treatment of CARMethods: Case report: A 68-year-old woman, former smoker, presented with bilateral subacute decreased visual acuity with 1 month of evolution, without other symptoms. Clinical examination revealed retinal atrophy and a mild vitritis component. Treatment with corticosteroid and IGIV was initiated empirically with the stabilization of visual loss. Anti-recoverin antibodies tested positive and a small cell lung carcinoma was diagnosed. In a review of the literature, we found that only 12 cases of patients treated with intravenous immunoglobulins have been reported.Conclusions: the early use of IVIG could contribute to an improvement and/or stabilization of visual symptoms in this patient group due to its rapid effect and lower profile of adverse effects when administered with chemotherapy. [ABSTRACT FROM AUTHOR]

Purpose: To describe a series of 5 patients with herpes simplex virus keratitis (HSK) and rheumatoid arthritis (RA) under immunosuppressive treatment.Methods: Retrospective study. Detailed data were obtained regarding symptoms and signs at the initial evaluation, treatment, microbiological diagnostic tests, evolution, and outcomes.Results: Five patients with HSK and RA were identified. Bilateral involvement occurred in 2 patients (40%). Epithelial keratitis was diagnosed in 5 eyes. Three eyes showed severe melting with eye perforation. Gram-positive bacterial co-infections were common in the group with stromal keratitis. We did not find differences in the evolution of the disease based on anti-rheumatoid treatment.Conclusions: The characteristics of HSK in patients with RA differed from HSK in immunocompetent patients. The stromal keratitis cases were very aggressive and difficult to manage, with perforation and gram-positive bacterial co-infection as frequently associated conditions. Prophylactic therapy at standard doses was unsuccessful to avoid recurrences. [ABSTRACT FROM AUTHOR]

We report a case of an immunocompetent woman with atypical marginal keratitis. She presented with recurrent episodes of multiples microabscess distributed in a triangular pattern associated with stromal oedema and anterior chamber uveitis, affecting both eyes, but not simultaneously. The episodes responded to steroid drops, corneal inflammation was coincidental with a worsening of her blepharitis in the affected eye and S. aureus was isolated from the lids. [ABSTRACT FROM AUTHOR]

Background: In our area, inhaling heroin mixed with cocaine vaporized on aluminum foil, known as rebujo, is becoming more and more common.Aim: To define the prevalence and the characteristics of bronchial disease (wheezing, bronchial hyperreactivity [BHR], and asthma) present in subjects inhaling heroin mixed with cocaine vaporized on aluminum foil.Materials and Methods: Ninety-one subjects who inhaled the drug mixture were included in the study: 62 subjects were from a drug rehabilitation center (INH-I group), and 29 subjects were among patients admitted to our hospital for a variety of reasons (INH-II group). A questionnaire was completed in both groups, as well as IgE determination and lung function tests (spirometry and methacholine challenge). The control group consisted of 122 individuals who did not inhale the drug mixture, and were chosen randomly from the general population (NO-INH group). All subjects were tobacco smokers.Results: In the INH-I group, there was a 41.9% prevalence of wheezing over the past 12 months, a 44.4% prevalence of BHR, and a 22.02% prevalence of asthma, defined as wheezing plus BHR. In the NO-INH group, these values were 32.78% (p = 0.22), 15.57% (p < 0.0001), and 8.19% (p < 0.01), respectively. Of the subjects who inhaled the drug mixture and denied having symptoms prior to the use of the drug mixture, 31.4% had wheezing develop after commencing use of the drug, following a mean latency of 4.09 months. Wheezing remitted in only 7.6% after discontinuation of the drug.Conclusions: (1) There is a real increase in BHR in subjects who inhale heroin mixed with cocaine vaporized on aluminum foil; and (2) this BHR is associated with wheezing that develops after a variable period of latency, once drug inhalation begins, and persists despite discontinuation of the drug. [ABSTRACT FROM AUTHOR]

Purpose: To describe and analyze the biomicroscopic features and in vivo confocal microscopy of the crystalline form of pre-Descemet corneal dystrophy (PDCD)., Methods: We examined two non-related families using biomicroscopy, in vivo confocal microscopy, and a genetic study using a gene panel test, looking for mutations in the PIKFYVE gene., Results: A slit-lamp examination of the first family revealed polychromatic crystalline punctiform opacities distributed all over the stroma in 8 of 11 family members in three generations with an autosomal dominant inheritance. The second family showed in three of four members in two generations the same opacities located in the pre-Descemet region. It was also a hint for autosomal dominant inheritance. The in vivo confocal microscopy identified numerous rounded and hyperreflective stromal particles measuring 10-15 μm in diameter, with the highest density in the posterior stroma and with normal keratocytes. No systemic disease was diagnosed. No variants or mutations were identified in PIKFYVE gene., Conclusions: Polychromatic deposits in patients with Punctiform and Polychromatic Pre-Descemet corneal dystrophy can be located not only in the deep stroma but also in the anterior and middle stroma. Our presentation reveals the possibility of considering this characteristic corneal disorder as a corneal dystrophy of its own and not as a subtype of pre-Descemet corneal dystrophy.

Purpose: To evaluate the sensitivity and specificity of a PCR-strip system based on reverse dot blot for detection of MUC5AC mRNA in corneal epithelium samples from patients with limbal stem cell deficiency (LSCD), and to determine the correlation with clinical diagnosis., Methods: We obtained 87 corneal impression cytology (IC) samples from 55 subjects (37 patients clinically diagnosed with LSCD and 18 control subjects). Total RNA was extracted from each IC sample and retrotranscribed to cDNA. MUC5AC mRNA transcript was amplified by a customized RT-PCR assay and detected in PCR strips based on reverse dot blot hybridization and in agarose gels. Conjunctival IC samples were used as positive controls., Results: Forty-four of 45 corneal IC samples obtained from patients clinically diagnosed with LSCD were positive for MUC5AC, whereas 34 of 42 corneal ICs from healthy subjects were negative for MUC5AC. Four healthy corneas were found MUC5AC positive, and four rendered inconclusive results. A correlation of 91.4% (P < 0.001) between molecular testing and clinical diagnosis was found. The overall sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the PCR-strip system were 98%, 89%, 92%, and 97%, respectively., Conclusions: Corneal epithelium MUC5AC transcript detection by reverse dot blot PCR-strip is a highly sensitive technique for LSCD diagnosis. The test results strongly correlate with clinical diagnosis of characterized LSCD cases. The PCR-strip system may be used for early detection, and for the detection of mild cases of LSCD, and constitutes an objective clinical tool for the monitoring of treatments and surgical decisions.