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. Examinations included slit-lamp biomicroscopy, in vivo confocal microscopy, Ocular Surface Disease Index (OSDI) score, blink rate, Schirmer I test, Oxford Staining Score (OSS), tear film break-up time (TFBUT) and Ocular Protection Index (OPI). RESULTS: There were age-dependent increases in OSDI (ß=0.34, 95% CI 0.03 to 0.66; p=0.030), blink rate (ß=0.18, 95% CI 0.08 to 0.27; p<0.001) and OSS (ß=0.05, 95% CI 0.03 to 0.07; p<0.001) and age-dependent reductions in tear production (ß=-0.23, 95% CI -0.43 to 0.02; p=0.029) and TFBUT (ß=-0.10, 95% CI -0.17 to -0.04; p<0.001). Perturbed OSDI, OSS, blink rate, tear production and TFBUT were noted after the age of ten and OSDI, OSS, blink rate and TFBUT correlated with deficient corneal nerves and limbal stem cell function. OSDI, blink rate, Schirmer, OSS, TFBUT and OPI were not associated with type of PAX6 mutation, but OSDI, OSS and blink rate associated with grade of aniridia-associated keratopathy. CONCLUSIONS: Ocular surface damage and dry eye signs appear in congenital aniridia regardless of mutation, appearing after 10 years of age and progressing thereafter. An early treatment window may exist for therapies to protect the ocular surface homoeostasis and limbal function, to possibly delay keratopathy development and progression.

[Optical rehabilitation and pediatric ophthalmological care following keratoplasty for childhood corneal opacities]. / Optische Rehabilitation und kinderophthalmologische Betreuung nach Keratoplastik bei kindlichen Hornhauttrübungen.

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. POSTOPERATIVE CARE: A distinction must be made between morphological care after transplantation and refractive correction as well as treatment of amblyopia. The younger the children, the less favorable the prognosis for the transplant and the more often multiple examinations with anesthesia are necessary in order to detect complications, such as infiltrates or suture loosening at an early stage. Especially unilateral congenital pathologies often do not lead to a sufficient improvement of amblyopia (refractory amblyopia, poor compliance). CONCLUSION: The prognosis after keratoplasty in childhood is already partly decided by the careful evaluation of indications (no surgery of a sclerocornea) and the detailed and realistic clarification for the parents (cooperation with long-term ocular and systemic treatment even if the child has poor compliance, frequent check-ups, reduced chances of amblyopia treatment). The younger the child is at the time of transplantation, the more frequent are graft failure and the development of complications. Later manifesting diseases in older children (herpetic corneal scars, keratoconus) have a better prognosis.

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. The used batch number of the camera was sn00406 and the software was from the company CCS Pawlowski Merge Eye. There were no filters used. The images were saved with a resolution of 300 DPI. Neither downstream nor averaging was used to enhance the resolution of the image in the case presentation section or the figure legend. The equipment used for the cross-sectional histologic images was a Zeiss Axioskop 40 microscope with an objective lens Zeiss A-Plan × 20/0.45 (Zoom 6.3 × TV 2/3″″C). The used camera was AxioCam MRc5 and the software was ZEN 3.2. The cross-sectional histologic images were saved with a resolution of 2584 × 1936 Pixels. Neither downstream nor averaging was used to enhance the resolution of the image in the case presentation section or the figure legend. CASE PRESENTATION: This is a rare case report of ligneous conjunctivitis in a 67-year-old male patient who presented a recurrent conjunctival granuloma after five excisions following cataract surgery in his left eye. We performed a tumor excision with free conjunctival autograft. The histology showed a fibrin crust including macrophages, granulocytes, lymphocytes, and reactively altered squamous cell nests. These findings were consistent with a ″pseudomembrane in conjunctivitis lignosa″. We administered a topical combination of plasminactivator, heparin, cortisone and cyclosporine. CONCLUSION: This treatment with the combination of plasminactivator, heparin, cortisone and cyclosporine has proven to be effective in preventing the recurrence of ligneous conjunctivitis.

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. Measured parameters included AAK grade, distance-corrected visual acuity (DCVA), central corneal thickness (CCT), corneal sensitivity, subbasal nerve density, mature dendritic cell (DC) density and corneal epithelial phenotype. RESULTS: 46 subjects (age range: 1-64 years) were examined, including 23 (50%) children under the age of 18. Five subjects (11.1%) with absent PAX6 coding mutation (non-PAX6 cases) had mild AAK (Grade 0-1) into the fourth decade of life and maintained corneal epithelial phenotype, greater subbasal nerve density (16.8 mm/mm2 vs. 3.58 mm/mm2, P = 0.01) and better corneal sensitivity (41 ±â€¯11 mm vs. 28 ±â€¯12 mm, P = 0.03) relative to those with PAX6 coding mutations. In five subjects, corneal endothelial cell density ranged from 3245 to 4399 cells/mm2. Independent of mutational status, an increased CCT, over tenfold increased mature DC density and reduced corneal sensitivity characterized all subjects. CONCLUSIONS: PAX6 coding mutations influence AAK phenotype and progression from the earliest stages of life. A minimal keratopathy present in 100% of congenital aniridia cases is independent of the specific mutation and consists of increased corneal thickness, reduced touch sensitivity, and increased ocular surface immune activity.

[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis]. / Klinik und Genetik von Augenentwicklungsstörungen: MAC-Spektrum und Vorderabschnittsdysgenesien.

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. Depending on the disease phenotype, it is possible to conclude on the gestational period in which ocular development was profoundly disrupted. The so-called neural crest cells contribute significantly to the development of eye structures, especially of the anterior segment. The review first presents a brief overview of the embryologic development of ocular structures and then describes major profound developmental disorders of the eyes: phenotypic and genetic features in the MAC spectrum (microphthalmia, anophthalmia, coloboma) as well as anterior segment dysgenesis (Axenfeld-Rieger spectrum, aniridia, Peters anomaly). It also outlines the systemic involvement of these diseases. In clinical and genetic diagnostic pathways, the determining factor is the exact phenotypic characterization that must be preceded by any genetic diagnosis and the further choice of diagnostic options. "Shotgun diagnostics" on all of the described genes involved in ocular developmental disorders is costly and less effective than a phenotypically-oriented selection of the genes common to the phenotypical syndrome described, and only then should it be followed by the analysis of rarer genes in a second or third molecular genetic step.