PURPOSE To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD). METHODS A 63-year-old man presenting with the complaint of decreased vision in one eye was noted to have a unilateral lattice corneal dystrophy. Examination of the patient's wife and two sons, ages 20 and 27 years old, failed to reveal th...

Vps35 (vacuolar protein sorting 35) is a major component of retromer that selectively promotes endosome-to-Golgi retrieval of transmembrane proteins. Dysfunction of retromer is a risk factor for the pathogenesis of Parkinson's disease (PD) and Alzheimer's disease (AD). However, Vps35/retromer's function in the eye or the contribution of Vps35-deficiency to eye degenerative disorders remains to ...

PURPOSE To report corneal findings in a familial case of the crystalline subtype of pre-Descemetic corneal dystrophy. CASE REPORT A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks...

PURPOSE With advances in phenotyping tools and availability of molecular characterization, an increasing number of phenotypically and genotypically diverse inherited corneal dystrophies are described. We aimed to determine the underlying causative genetic mechanism in a three-generation pedigree affected with a unique anterior membrane corneal dystrophy characterized by early onset recurrent co...

Posterior amorphous corneal dystrophy (PACD) is a rare, autosomal dominant disorder affecting the cornea and iris. Next-generation sequencing of the previously identified PACD linkage interval on chromosome 12q21.33 failed to yield a pathogenic mutation. However, array-based copy number analysis and qPCR were used to detect a hemizygous deletion in the PACD linkage interval containing 4 genes e...

The main purpose of the study was to describe the surgical success rate and visual results of penetrating keratoplasty in children. This retrospective study included children that underwent corneal transplantation at the Department of Ophthalmology, General Hospital "Sveti Duh", in the period 1994-1999. Patients' age ranged from 6 to 16 years. Twenty-five corneal transplants were performed in 2...

PURPOSE To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC), epithelial basement membrane corneal dystrophy (EBMCD) and Fuchs' endothelial corneal dystrophy (FECD). METHODS A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. He reported bilateral recurrent corneal erosions with di...

Purpose: To describe a rare bilateral corneal ringshaped opacity, not categorized as corneal dystrophy or degeneration occurring without any associated ocular or systemic disease. Methods: Case report and review of the literature. Results: The authors describe the clinical history and examination of an 80 years old man, with an asymptomatic bilateral and symmetrical ring-shaped corneal opacity ...