Lid wiper epitheliopathy: The influence of multiple lid eversions and exposure time.

PURPOSE: To investigate the effect of multiple lid eversions on lid wiper epitheliopathy (LWE), along with the effect of cumulative lid exposure time and the patterns of associated staining. METHODS: The increase in area of lid wiper staining with lissamine green was compared by everting both the upper eyelids of each subject (i.e. contralateral design), with one eye being everted once for 45 s and the fellow eyelid everted three times, each time for 15 s. This pattern of contralateral eversion was repeated with a total of three eversions in one eye and nine eversions in the fellow eye, with each eye totalling 135 s cumulative exposure to eversion over about 9 min. The LWE area of staining was objectively quantified from slit lamp photography images captured at every lid eversion by 2 masked observers. Two-way repeated measures ANOVAs were used to determine the effect of number of lid eversions and cumulative exposure time on the amount of staining caused. Each image was also categorized into its primary LWE staining pattern, by a masked observer. RESULTS: The multiple eversions condition caused significantly greater LWE than the single eversion condition (p < 0.001), while cumulative exposure time did not have a significant effect on LWE (p = 0.137). Classification of the primary staining patterns revealed that with more eyelid eversions there was a shift from mostly 'no staining' to minor patterns ('short horizontal bands' and 'vertical streaks') and then to more extensive patterns ('broad horizontal bands' and 'comb-shaped'). CONCLUSIONS: The number of eyelid eversions is a confounding factor that should be controlled when investigating LWE, in particular when considering the link with dry eye or contact lens discomfort. However the cumulative exposure time did not appear to influence the LWE magnitude.

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency. Establishment of detailed genotype-phenotype correlations was not possible because of the size of the cohort; however, the phenotype seems to appear more severe in case of CDH1 mutations. Functional analysis of CDH1 mutations confirmed their deleterious impact and suggested accelerated E-cadherin degradation. CONCLUSION: Mutations in CDH1 encoding the E-cadherin were previously reported in hereditary diffuse gastric cancer as well as in nonsyndromic cleft lip/palate. Mutations in CTNND1 have never been reported before. The encoded protein, p120ctn, prevents E-cadherin endocytosis and stabilizes its localization at the cell surface. Conditional deletion of Cdh1 and Ctnnd1 in various animal models induces features reminiscent of BCD syndrome and underlines critical role of the E-cadherin-p120ctn interaction in eyelid, craniofacial, and tooth development. Our data assert BCD syndrome as a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies.Genet Med advance online publication 09 March 2017.

Técnica «Dry Lake» para el manejo de la ampolla hipertrófica tras implante de XEN ® Gel Stent / «Dry Lake» technique for the treatment of hypertrophic bleb following XEN ® Gel Stent placement

CASO CLÍNICO: Presentamos el caso de una paciente operada previamente de cirugía de glaucoma con dispositivo XEN® sin incidencias, que presenta una ampolla hipertrófica produciendo un ectropión mecánico secundario. Se describe la técnica «Dry Lake» consistente en drenaje de la ampolla, previo bloqueo viscoelástico del dispositivo XEN® vía ab-interno, y el sellado de la ampolla inferior con pegamento tisular. DISCUSIÓN: En el manejo de este tipo de ampollas se han postulado tratamientos médicos, suturas compresoras e incluso la utilización de sangre autóloga. El uso del Tissucol®, ya descrito en la cirugía del glaucoma, puede ser útil en este tipo de casos de ampollas hipertróficas secundarias al dispositivo ab-interno XEN®

CASE REPORT: The case of a patient with previous uncomplicated XEN® drainage glaucoma surgery is described, who presented with hypertrophic bleb and mechanical ectropion. Treatment consisted of the «Dry Lake» procedure to drain the hypertrophic bleb following blockage with viscoelastic of the ab-interno stent and bleb sealing with a tissue adhesive. DISCUSSION: Proposals for the management of this type of bleb include therapeutic strategies, sutures or even autologous blood. The use of Tissucol®, already described in glaucoma surgery, may be appropriate to treat this complication of XEN® placement