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Congenital primary aphakia (CPA) is a rare developmental disorder characterized by the absence of lens, the development of which is normally induced during the 4th-5th wk of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histological criterion for CPA. So far, the genetic basis for this human condition has remained unclear. Here, we present the analysis of a consanguineous family with three siblings who had bilateral aphakia, microphthalmia, and complete agenesis of the ocular anterior segment. We show that a null mutation in the FOXE3 gene segregates and, in the homozygous state, produces the mutant phenotype in this family. Therefore, this study identifies--to our knowledge, for the first time--a causative gene for CPA in humans. Furthermore, it indicates a possible critical role for FOXE3 very early in the lens developmental program, perhaps earlier than any role recognized elsewhere for this gene.

Sutureless intrascleral IOLs corrected posttraumatic aphakia. The SIA was comparable between groups. This procedure should be considered after trauma when other implantation techniques are not possible.

In children, CT increases with age and is inversely correlated to axial length. There is a significant variation of CT between children of the same age.

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Aim: To define the clinical and histopathological characteristics of primary lacrimal sac lymphoma in a predominantly white population. Methods: Specimens of lacrimal sac lymphoma and follow up data were solicited from members of the Ophthalmic Oncology Task Force of the European Organization for Research and Treatment of Cancer (EORTC) and the European Ophthalmic Pathology Society (EOPS). Specimens were stained with haematoxylin and eosin and an immunohistochemical panel against leucocyte antigens was applied. Diagnosis was reached by consensus of five experienced pathologists according to the World Health Organization classification system. The histopathological findings were correlated with the clinical data. Results: Of 15 primary lacrimal sac lymphomas, five (33%) were diffuse large B cell lymphoma (DLBCL), five (33%) were extranodal marginal zone B cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma), three were classified as ''transitional MALT lymphoma,'' being in transition from MALT lymphoma to DLBCL, and two were unclassified B cell lymphomas. Nine of the patients were female, and the median age at the time of diagnosis was 71 years (range 45-95 years). The most frequent presenting symptoms were epiphora (85%), swelling in the region of the lacrimal sac (79%), and dacryocystitis (21%). All but one patient presented in stage I. Systemic spread occurred in three of nine patients (33%). The 5 year overall survival was 65%. Conclusions: DLBCL and MALT lymphoma are equally common in the lacrimal sac in contrast with the remaining periorbital and/or orbital region where MALT lymphoma predominates.

Purpose To measure choroidal thickness in children of various ages by using spectral optical coherence Tomography with enhanced depth imaging (EDI). The primary outcome was to measure choroidal thickness in children. The secondary outcomes were to investigate the association between subfoveal choroidal thickness and ocular axial length, age, gender, weight, and height in children. Methods Hospital‐based cross‐sectional study. Healthy children visiting at the University Hospital of Besançon were prospectively included between May and August 2012. Optical coherence tomography with the EDI system (Spectralis®, Heidelberg, Germany) was used for choroidal imaging at nine defined points of the macula of both eyes. Axial length was measured by using IOL Master® (Carl Zeiss. Meditec. USA). Height, weight and refraction were recorded. Results Three hundred forty height eyes from 174 children were imaged. The mean age of the children studied was 8.70±2.89 years (mean±SD); range 3.5‐14.9 years. The mean subfoveal choroidal thickness in right eyes was 341.96±74.7 µm. Mean axial length was 22.30±1.05mm. Choroidal thickness increased with age (r=0.24, p=0.017), height and weight but not with sex (p>0.05). It was also inversely correlated to axial length (r=0.24, p=0.001). There was a moderate correlation between the two eyes in terms of choroidal thickness (r=0.6). The nasal choroid appeared thinner than in the temporal area (ANOVA, p<0.0001) Conclusion In children, choroidal thickness increases with age and is inversely correlated to the axial length. There is a significant variation of the choroidal thickness between children of the same age.