Biomedical subjects

B Wannke

Publications and source records attributed to B Wannke.

5 recordsLinked to original sources

PubMed2001

[Chronic keratitis and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome - a case report].

BACKGROUND: The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare disease which can be associated with severe keratitis leading to blindness. Besides conjunctivitis and keratitis uveitis anterior, cataract, retinitis pigmentosa, atrophy of the optical nerve, loss of lashes and eye-brows have been described. CASE REPORT: We report on an 11-year-old girl with the history of APECED syndrom. For 6.5 years she has suffered from chronic keratoconjunctivitis including corneal infiltrates, peripheral epithelial and subepithelial scarring and peripheral neovascularisation of the cornea. Most of all she complained of recurrent conjunctivitis, photophobia and epiphora. The best therapy consisted in local application of dexamethasone and gentamycine three times daily. Under this therapy the corneal infiltration remained stable and the patient felt most comfortable. No side effects appeared by now. CONCLUSIONS: Inspite of the bad prognosis of the keratitis we managed to keep the cornea infiltrates stable. Nevertheless the search for a more effective treatment with less side effects like secondary glaucoma or cataracts will go on.

Child↗

PubMed2000

[Mutations in the keratin gene as a cause of Meesman-Wilke corneal dystrophy and autosomal dominant skin cornification disorders].

BACKGROUND: Meesmann's corneal dystrophy (OMIM 122,100) is a rare autosomal dominant disorder of the corneal epithelium. It manifests in early childhood and affects both eyes. The disease is characterized by variable patterned dot-like corneal opacities and intraepithelial vesicles, which can be seen by slit-lamp examination and retro-illumination. Further signs include punctate erosions, lacrimation, photophobia, and blepharospasm. Vision is usually only slightly diminished. By histology, the corneal epithelium is irregularly thickened. It shows vacuolated epithelial cells and intraepithelial formation of vesicles. By electron microscopy fibrogranular aggregates are seen in the cytoplasm of epithelial cells. RESULTS: Linkage analyses in descendants of the family described by Meesmann and Wilke and other affected kinships showed that the putative genetic defect locates within the keratin type I gene cluster on chromosome 17 (17q12-21). Molecular genetic analyses in more than ten affected families showed that mutations in the cornea-specific keratin genes K3 and K12 represent the causative genetic defects of the disease phenotype. CONCLUSION: Comparative studies in autosomal dominant skin disorders of cornification suggest that the mutations identified in patients with Meesmann's corneal dystrophy exert dominant negative effects on keratin filament assembly. Disturbed filament formation results in intracellular keratin clumping, identifiable as fibrogranular aggregates. As a result the mechanical resilience of the affected cells and the epithelial tissue appears markedly reduced. Whether abnormalities of functionally related structural proteins, e.g. desmosomal components, could result in a phenotype similar to Meesmann and Wilke's corneal dystrophy remains to be seen.

Child↗

PubMed2000

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.

AIM: To study a kindred with Meesmann's corneal dystrophy (MCD) to determine if a mutation within the cornea specific K3 or K12 genes is responsible for the disease phenotype. METHODS: Slit lamp examination of the cornea in four members of the kindred was carried out to confirm the diagnosis of MCD. The region encoding the helix initiation motif (HIM) of the K12 polypeptide was polymerase chain reaction (PCR) amplified from genomic DNA derived from affected individuals in the kindred. PCR products generated were subjected to direct automated sequencing. Restriction enzyme analysis employing Ban I was used to confirm the presence of the mutation in affected individuals of the family. RESULTS: Sequencing of the K12 gene in an affected individual from the family revealed a novel heterozygous missense mutation (413A-->C), predicting the substitution of a proline for a glutamine at codon 130 (Q130P) in the HIM of the K12 protein. The mutation was excluded from 50 normal, unaffected individuals by restriction enyzme analysis and was therefore unlikely to be a common polymorphism. CONCLUSION: A novel missense mutation in the K12 gene leads to MCD in a German kindred. Missense mutations have now been identified within the region encoding the helix initiation motif of the K12 protein in eight of 11 MCD kindreds analysed at the molecular level.

Corneal Dystrophies, Hereditary↗

PubMed1999

[Impairment of mesopic vision following photorefractive keratectomy of myopia].

PURPOSE: Halos, glare disability and problems during night driving are significant side effects of photorefractive keratectomy, caused by increasing optical aberrations under reduced conditions of luminiscence. In a previously performed retrospective study an impairment of mesopic vision in most of the investigated eyes was found. To prove these results, a prospective study was conducted. METHODS AND PATIENTS: In a prospective, consecutive study mesopic function was investigated in 41 myopic patients, who were interested in PRK. 26 patients underwent surgery (Summit ExciMed UV200LA, optical zone 5 mm), which was performed in 30 eyes. Mesopic function (contrast vision, glare sensitivity) was measured by using the Mesoptometer II test in all 30 eyes preoperatively and 6 to 9 months postoperatively. Additionally, 21 eyes were examined after 12 to 15 months of follow up. RESULTS: There was a statistically significant reduction of contrast vision and increase of glare sensitivity after 6 to 9 and 12 to 15 months. The Mesoptometer II contrast level of 1:5 (with and without glare) can be used as a critical parameter for the decision, whether mesopic function is markedly reduced or not. Before surgery, contrast level of 1:5 without glare was not recognized in 30%, with glare in 40%. After 6 to 9 months, this contrast level was not recognized in 73% of the 30 eyes without glare, with glare in 80%. Out of these 30 eyes, 21 eyes were followed over 12 to 15 months. Whereas 38% of these eyes (with glare 48%) did not recognized the critical contrast level before surgery, this rate increased to 67% (with glare 81%) 12 to 15 months after surgery. CONCLUSIONS: Impairment of mesopic function has to be considered as a possible side effect of PRK (optical zone 5 mm). Although further investigations are needed, the indication for PRK in special professions (pilots, professional drivers) should be very critical discussed.

Adult↗

PubMedDate not supplied

Subcutaneous tumor of the lower eyelid: a potential manifestation of a Dirofilaria repens infection.

PURPOSE: To report a case of Dirofilaria repens presenting as a subcutaneous tumor of the lower eyelid. METHODS: Interventional case report. RESULTS: A 29-year-old man of Greek origin without systemic symptoms presented with a 3-week history of a small painless mass localized in the medial part of the lower eyelid. There was no history of a preceding trauma, injury, or visual impairment; however, the patient had recently been on a holiday in Italy. The lesion persisted after systemic antibiotic treatment. Routine blood tests were normal and the efferent tear ducts were patent. Upon surgical intervention a yellowish, pea-sized cyst-like structure was found beneath the orbicularis muscle and removed in toto. Histologic examination revealed the presence of a wormlike structure with the characteristic features of a single adult Dirofilaria repens nematode. CONCLUSIONS: Infection with the nematode Dirofilaria repens has to be considered in the differential diagnosis of malignant and benign tumors of subcutaneous periocular tissues in patients who traveled to endemic areas.

Adult↗