PURPOSE To investigate the phenotypic variability of patients bearing the heterozygous R124H mutation in the TGFBI (transforming growth factor-beta-induced) gene that causes granular corneal dystrophy type 2 (GCD2). METHODS We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phen...

There is an evolution in the demands of modern ophthalmology from descriptive findings to assessment of cellular-level changes by using in vivo confocal microscopy. Confocal microscopy, by producing greyscale images, enables a microstructural insight into the in vivo cornea in both health and disease, including epithelial changes, stromal degenerative or dystrophic diseases, endothelial patholo...

Following the discovery of the "Taung Child" (Australopithecus africanus) in 1924 in the Buxton-Norlim Limeworks near Taung, the fossil-bearing deposits associated with the Dart and Hrdlička pinnacles have been interpreted as the mined remnants of cave sediments that formed within the Plio-Pleistocene Thabaseek Tufa: either as a younger cave-fill or as contemporaneous carapace caves. When combi...

Introduction: The Mars Reconnaissance Orbiter's High-Resolution Imaging Science Experiment completed its primary science phase (lasting one Mars year) in November 2008. By the end of the primary science phase, the HiRISE camera completed 9549 observations for a total of approximately 8 Terabytes of data. These observations cover an area close to 938,000 km 2 or approximately 0.6% of the surface...

We report a hitherto unknown occurrence of ancient Neoproterozoic evaporite deposits from an allochthonous terrane in the Pan-African Gariep belt in Namibia. Low contents of Rb, Cs, Ba, Zr, Hf, Th, and U, flat chondrite-normalised rare earth element (REE) patterns, Sr/Sr ratios as low as 0.7075, Na–Cl–Br systematics of fluid inclusion leachates, and high dB values for stratiform tourmalinites, ...

This paper describes three siblings, the only affected members of the family, with gelatinous drop-like keratopathy. This rare form of primary corneal amyloidosis has been reported almost exclusively in Japanese literature, and to our knowledge this is the first report of the condition seen in the United Kingdom. Clinical and histological details are presented. The nature and possible aetiology...

A 75-year-old woman with corneal argyrosis was treated by a Q-switched Nd-YAG laser iridotomy after acute angle closure glaucoma. Each laser shot caused clearance of the argyrotic deposits anterior to the iridotomy site. The same effect was seen when a preventive iridotomy was performed in the other eye. The areas of clear cornea remained unchanged for a follow-up period of eight months.

Amiodarone is one of the most common antiarrhythmic medications prescribed worldwide [1] and its adverse reactions are very frequent (75% of patients) [2] and extensively studied: corneal deposits in over 90% of the patients (and also development of cataract and optic neuropathy), interaction with other cardiac drugs, symptomatic bradycardia, hepatotoxicity, gastrointestinal disturbances, derma...