The identification of a CRYGD mutation adds another gene to those that may be mutated in CCMC and underscores the genetic heterogeneity of this condition. Three CRYAA mutations at the R116 position, in association with CCMC, suggest that R116 represents a CCMC-mutational hotspot. The CCMC phenotype demonstrates variable expression with regard to cataract morphology and age of appearance. Clinical heterogeneity, including additional malformation of the anterior segment of the eye, confirm that dedicated cataract genes may be involved in the largely unknown developmental molecular mechanisms involved in lens-anterior segment interactions.

Inter-reader agreement on central vascular changes is poor, especially when based on more than two rating categories. The subjective nature of diagnosing such vascular changes possibly resulted in earlier treatment of preterm infants in Denmark over the entire study period (1997-2006). The recent increased incidence of treated infants in Denmark is, at least in part, explained by a significant shift in indication for treatment.

ABSTRACT.Purpose: We aim to describe the first case of tubulointerstitial nephritis and uveitis (TINU) syndrome reported in Scandinavia and to underline the importance of the syndrome, which should be better known among ophthalmologists. Methods: We report an 11-year-old boy who was admitted to hospital because of general fatigue and weight loss. Blood tests showed renal insufficiency and a renal biopsy revealed acute tubulointerstitial nephritis. One week after admission the patient developed transitory blurred vision and flickering shadows in the left eye. Slit-lamp examination revealed bilateral anterior non-granulomatous uveitis and TINU syndrome was diagnosed. Results: Because of renal insufficiency the patient was treated with systemic prednisone 50 mg ⁄ day for 3 weeks. Evolution was favourable, and prednisone was tapered over 10 weeks. Uveitis was treated with topical steroid with good effect. The only complication after 18 months of follow-up was transitory cushingoid aspect. Conclusions: Tubulointerstitial nephritis and uveitis syndrome is a rare syndrome that is probably underdiagnosed in clinical practice. Co-operation between ophthalmologists and nephrologists ⁄ paediatricians is crucial for early diagnosis and instigation of treatment. Uveitis may occur before tubulointerstitial nephritis or the renal symptoms may be so mild that the patient is unaware of them. Therefore, ophthalmologists play an important role in the initial discovery of patients with TINU syndrome. Tubulointerstitial nephritis tends to be self-limiting, whereas uveitis tends to relapse and recurrences tend to be more severe than the initial uveitis. Therefore, the patient must be ophthalmologically monitored very carefully.

ABSTRACT.Purpose: The purpose of this study was to evaluate the ICare tonometers precision and accuracy and the extent to which intraocular pressure (IOP) measurements are influenced by measuring position. Methods: This was carried out by comparing the central and peripheral ICare-IOP readings and comparing ICare-with the Goldmann applanation tonometer (GAT)-IOP readings. IOP was measured using the ICare rebound tonometer on the right eye of 40 subjects, straight at the centre of the cornea (CS), straight 2 mm from the nasal and temporal limbus (NS and TS), and in 10 degrees nasally and temporally angled positions measured from the same location as CS (NA and TA). The IOP was also assessed with the GAT. Results: Central IOP (CS) was significantly (p < 0.001) greater than peripheral measurements (NS, TS, NA and TA) by approximately 3-4 mmHg. Centre IOP (CS) significantly overestimated by mean 2 mmHg and the peripheral measurements significantly underestimates approximately 1.4-2 mmHg compared with GAT readings. Conclusion: The ICare tonometer may be useful in a routine clinical setting for IOP screening, but the ICare measurement is not a substitute for the GAT measurement, when a precise and accurate IOP is desired.