CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs' dystrophy.

Purpose: It was the aim of this investigation to elucidate the functional effects of CTG18.1 trinucleotide repeat expansion and the polymorphism rs613872 in the transcription factor 4 (TCF4) in corneas of patients affected by Fuchs' endothelial corneal dystrophy (FECD).

Methods: Sixty-one unrelated German patients with FECD and 113 unaffected controls were investigated and genotyped for the CTG18.

Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies.

The purpose of this study was to report on two novel missense mutations of the cornea-specific TGFBI gene in one single patient and in two generations of a family diagnosed with unique corneal dystrophy (CD) phenotypes. Ophthalmologic examination, in several cases ocular coherence tomography of the anterior segment (AS-OCT), was performed in 21 affected patients and in two unaffected members of one affected family. Coding regions of the TGFBI gene were direct sequenced in all 23 individuals.

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

Purpose: To present the light and electron microscopic findings of a unique corneal dystrophy never before described in a German family carrying the Gly623Asp Mutation of the TGFBI gene with late clinical onset.

Design: Experimental study.

Participants: Four affected and 6 nonaffected family members.

Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings.

Purpose: To evaluate the correlation between surgical outcome after phototherapeutic keratectomy in patients with autosomal dominant transforming growth factor, beta-induced (TGFBI)-linked corneal dystrophies (CD) and molecular genetic findings regarding the TGFBI gene.

Methods: Twelve patients were examined to investigate genotype by direct sequencing of the TGFBI gene. Twenty eyes of 12 patients were treated with phototherapeutic keratektomy (PTK) to remove superficial corneal opacifications and to decrease recurrent erosions.

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

Introduction: The objective of this study was to investigate genotype-phenotype correlations, the consequences for surgical treatment, and the therapeutical options in patients with macular corneal dystrophy (MCD).

Material And Methods: We investigated MCD genotype by using polymerase chain reaction followed by direct sequencing in one family and four patients with MCD. Results were confirmed by restriction analysis.

Varieties of contact lens fittings after complicated hyperopic and myopic laser in situ keratomileusis.

Purpose: To determine whether contact lenses with a special back surface design can improve visual acuity after complicated laser in situ keratomileusis (LASIK).

Methods: Fifteen eyes (six after myopic LASIK and nine after hyperopic LASIK) of eight patients were fitted with contact lenses with a special back surface design for optical rehabilitation. Four different types of lenses (aspheric, tricurve, keratoconus, and reverse) were used selectively, depending on the abnormal eccentricity (positive and exceeding 0.

Refractive error after triple and non-simultaneous procedures: is the application of a standard constant keratometry value in IOL power calculation advisable?

Purpose: The purpose of this investigation was to determine whether or not the use of a standard constant keratometry value in cases of preoperative abnormal keratometry values in biometry for triple procedures is advisable.

Methods: Cataract surgery and penetrating keratoplasty were performed in 82 eyes; 53 eyes underwent triple procedures and 29 eyes underwent non-simultaneous procedures. A standard constant keratometry value of 42.

Molecular genetic and ocular findings in patients with holt-oram syndrome.

Purpose: The autosomal dominant Holt-Oram syndrome (HOS) is characterized by upper limb and cardiac septal defects. Mutations of the TBX5 gene have been identified as the underlying gene defect in HOS. Embryonic expression of TBX5 has been found in the human retina.

Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.

Holt-Oram syndrome (HOS) is a specific developmental defect involving upper limb malformations and cardiac defects. Mutations in the TBX5 gene, located on chromosome 12q24.1, were demonstrated as the underlying molecular defect in several families with this disorder.