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...

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 ...

Macular corneal dystrophy is an inherited corneal disease characterized by corneal opacities resulting from intra- and extracellular deposits within the corneal stroma. Several monoclonal antibodies developed against antigens of corneal fibroblasts were screened for their reactivity with these abnormal deposits in corneas with macular dystrophy using an indirect peroxidase-conjugated immunostai...

AIMS/BACKGROUND To describe a bilateral, mid peripheral, ring-shaped corneal opacity, not resembling any known corneal degeneration, dystrophy, or other disorder, and occurring without ocular or systemic disease. METHODS Ophthalmic examination, haematological screening, and ultrasound biomicroscopy. RESULTS A 25 year old man showed grey-white, granular opacities in both corneas, with an 8 m...

AIM The corneal dystrophies represent a group of clinically and genetically heterogeneous, inherited diseases, often resulting in bilateral opacification of the cornea, and may require penetrating keratoplasty. Mutations in the transforming growth factor beta-induced (TGFBI) gene segregate with a wide range of phenotypically heterogeneous corneal dystrophies. Many of the other dystrophies remai...