Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.

BACKGROUND: X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an evaluation of the efficacy of potential treatments. METHODS: 25 children (19 boys and 6 girls between 11 and 35 months of age) with genetically confirmed XLHED were enrolled in a long-term natural history study. Clinical data were collected both retrospectively using parent questionnaires and medical records (pregnancy, birth, infancy) and prospectively until the age of 60 months. General development, dentition, sweating ability, ocular, respiratory, and skin involvement were assessed by standardized clinical examination and yearly quantitative surveys. RESULTS: All male subjects suffered from persistent anhidrosis and heat intolerance, although a few sweat ducts were detected in some patients. Sweating ability of girls with XLHED ranged from strongly reduced to almost normal. In the male subjects, 1-12 deciduous teeth erupted and 0-8 tooth germs of the permanent dentition became detectable. Tooth numbers were higher but variable in the female group. Most affected boys had no more than three if any Meibomian glands per eyelid, most girls had fewer than 10. Many male subjects developed additional, sometimes severe health issues, such as obstructive airway conditions, chronic eczema, or dry eye disease. Adverse events included various XLHED-related infections, unexplained fever, allergic reactions, and retardation of psychomotor development. CONCLUSIONS: This first comprehensive study of the course of XLHED confirmed the early involvement of multiple organs, pointing to the need of early therapeutic intervention.

[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene]. / Brittle-Cornea-Syndrom Typ 1 durch Compound-Heterozygotie zweier Mutationen im ZNF469-Gen.

We report the case of a 3-year-old boy presenting with bilateral keratoglobus and blue sclera in addition to hallux valgus, arachnodactyly, small joint hypermobility, mitral valve dysfunction and a history of generalized muscular hypotonia in early infancy. Molecular genetics provided evidence of two pathogenic mutations in the ZNF469 gene (compound heterozygosity) leading to the diagnosis of brittle cornea syndrome type 1. In addition to neuropediatric care, spectacles were prescribed to correct refractive error and for ocular protection. Owing to the thin cornea and sclera, eye injuries are the main cause for irreversible visual loss in this disease.

In situ ablation of lens epithelial cells in porcine eyes with the laser photolysis system.

PURPOSE: To evaluate the efficacy of the laser photolysis system (LPS) (A.R.C. Laser GmbH) in removing lens epithelial cells (LECs) to prevent posterior capsule opacification (PCO) in an in situ model. SETTING: Department of Ophthalmology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. METHODS: Twelve enucleated porcine eyes fixed in a specially developed eye holder were randomly assigned to the control or treatment group. The cornea and iris were removed from all eyes, and a small paracentral capsulorhexis was performed. The lens nucleus and cortex were extracted by hydroexpression. The tip of the LPS was inserted into the capsular bag of eyes in the treatment group, and 50 pulses (10 mJ) were applied to the anterior capsule. All capsules were evaluated for remaining LECs by confocal laser scanning microscopy (HRT II with the Rostock Cornea Module, Heidelberg Engineering) and standard histology (hematoxylin-eosin and periodic acid-Schiff stains). RESULTS: In the control group, a homogenous layer of LECs attached to the anterior capsule was seen with both evaluation methods. In the treatment group, no LECs adherent to the anterior capsule were detected, suggesting complete ablation of LECs from the capsule. Small islands of equatorial LECs were found in places in which the remaining cortical fibers protected cells from the laser shockwave. The results of the confocal laser scanning microscopy were confirmed by standard histology. CONCLUSIONS: The LPS completely ablated LECs in an in situ model of cataract extraction. This system might prevent formation of PCO in vivo.

Follicular Conjunctivitis due to Chlamydia felis-Case Report, Review of the Literature and Improved Molecular Diagnostics.

A 29-year-old woman presented with unilateral, chronic follicular conjunctivitis since 6 weeks. While the conjunctival swab taken from the patient's eye was negative in a Chlamydia (C.) trachomatis-specific PCR, C. felis was identified as etiological agent using a pan-Chlamydia TaqMan-PCR followed by sequence analysis. A pet kitten of the patient was found to be the source of infection, as its conjunctival and pharyngeal swabs were also positive for C. felis. The patient was successfully treated with systemic doxycycline. This report, which presents one of the few documented cases of human C. felis infection, illustrates that standard PCR tests are designed to detect the most frequently seen species of a bacterial genus but might fail to be reactive with less common species. We developed a modified pan-Chlamydia/C. felis duplex TaqMan-PCR assay that detects C. felis without the need of subsequent sequencing. The role of chlamydiae-specific serum antibody titers for the diagnosis of follicular conjunctivitis is discussed.

Fungal interface keratitis by Candida orthopsilosis following deep anterior lamellar keratoplasty.

A 39-year-old male patient underwent uncomplicated deep anterior lamellar keratoplasty due to keratoconus. On day 5 after surgery, small whitish infiltrates developed in the corneal interface. The diagnosis of fungal keratitis was made when the culture medium of the graft grew Candida after the surgical intervention. Despite intensive antimycotic treatment and irrigation of the interface, the infiltrates persisted and eventually enlarged. Therefore, revision surgery with penetrating keratoplasty was performed. Microbiological analysis showed Candida orthopsilosis in the culture of the excised graft button. Histopathological staining of the excised graft showed periodic acid-Schiff-positive and Grocott methenamine silver-positive clusters of yeast between Descemet's membrane and the deep corneal stroma with focal perforations through Descemet's membrane. The treatment of mycotic keratitis caused by C orthopsilosis is challenging. Antimycotic treatment was unsuccessful in this case. Progression of the keratitis and perforation of Descemet's membrane suggest that early surgical intervention by penetrating keratoplasty is required.

Pressure-induced interlamellar stromal keratitis after laser in situ keratomileusis.

PURPOSE: To describe a patient with interlamellar stromal keratitis induced by increased intraocular pressure (IOP) [Pressure-induced interlamellar stromal keratitis (PISK)] after laser in situ keratomileusis (LASIK) surgery. METHODS: Case report and review of the literature. RESULTS: We report a case of interlamellar stromal keratitis induced by increased IOP after LASIK surgery. A 42-year-old man presented with persistent interface haze after uneventful LASIK. The patient described onset of decreased visual acuity after the first 2 postoperative weeks, failed to improve with high-dose topical steroid drops, and had significantly elevated IOP values up to 48 mm Hg. IOP was resistant to maximal topical antiglaucomatous therapy. The patient showed both improvement in visual acuity and decrease in interface haze after discontinuation of topical steroids and lowering of IOP by both topical and systemic treatment. Slit-lamp optical coherence tomography ruled out a fluid accumulation in the interface. CONCLUSIONS: PISK appears clinically almost identical to diffuse lamellar keratitis after LASIK. It is important to measure the IOP and be suspicious when a diffuse interface haze occurs after the first postoperative week, is resistant to or even exacerbates in response to an increase in topical steroid treatment, and is not associated with other causative events. Slit-lamp optical coherence tomography is a valuable tool that allows differentiation between space-occupying interface fluid collection and non-space-occupying interface fluid collection to avoid falsely low or normal IOP measurements in PISK.