Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window.

Aim: To evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia.

Methods: 45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study. Whole-exome sequencing identified the causative mutation.

[Optical rehabilitation and pediatric ophthalmological care following keratoplasty for childhood corneal opacities].

Background: The younger the children are at the time of corneal transplantation, the worse the survival prognosis of the graft.

Preoperative Considerations: Preoperative considerations are significant in terms of accurate parental education, ensuring adherence to treatment and choosing the appropriate surgical time frame (amblyopia versus graft failure, compliance of the patient). Parental education must include the reduced visual prognosis in young children, exceptions being later acquired corneal pathologies such as inflammatory corneal scars (herpes) and keratoconus.

Recurrent ligneous conjunctivitis after cataract surgery in a 67-year-old male patient: a case report.

Background: Ligneous conjunctivitis is a rare form of chronic pseudomembranous conjunctivitis which usually starts during infancy. We report on an unsual case of recurrent ligneous conjunctivitis after cataract surgery in a 67-year-old male patient.

Methods: The equipment used for the slit-lamp images was a Haag Streit slit lamp BX900 Sn 00,406 with 16 × magnifications.

Early phenotypic features of aniridia-associated keratopathy and association with PAX6 coding mutations.

Purpose: To investigate corneal phenotype in aniridia-associated keratopathy (AAK) including its earliest manifestations, in relation to PAX6 mutational status.

Methods: 46 subjects (92 eyes) with congenital aniridia from a German registry were examined using slit lamp biomicroscopy, anterior segment optical coherence tomography, contact esthesiometry and in vivo confocal microscopy. Cytogenetic analysis was conducted by Sanger sequencing of PAX6 exons and/or MLPA analysis.

[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis].

To control the development of the ocular phenotype, several coordinated steps of temporally- and spatially-organized networked triggers (inductions) are necessary. This is regulated at the level of transcription. Crucial here are the so-called master genes or DNA-binding transcription factors PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 and PAX2.