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BACKGROUND AND PURPOSE: Several previous studies have employed optical coherence tomography (OCT) of the optic disc and 'white-on-white' automated perimetry to evaluate optic neuritis (ON) associated with multiple sclerosis (MS). This study employed OCT, white-on-white automated perimetry as well as 'blue-on-yellow' automated perimetry to evaluate MS patients with or without episodes of ON. METHODS: The MS group consisted of 56 patients with MS (27 patients with no history of ON in both eyes and 29 patients with at least one ON attack in one or both eyes), whereas the control group consisted of 56 age- and sex-matched healthy subjects. All patients underwent a complete neurological and ophthalmological examination. Peri-papillary retinal nerve fibre layer thickness (RNFLT) was evaluated using OCT. The mean defect and pattern standard deviation for both white-on-white and blue-on-yellow perimetry were also recorded. RESULTS: RNFLT and perimetric scores were significantly lower in MS group without a history of ON and in the unaffected eyes of MS group with unilateral ON, compared with controls. MS group with more than one ON episodes had significantly compromised blue-on-yellow perimetric indices, compared with patients with one ON episode, whereas respective differences for white-on-white perimetry were not statistically significant. CONCLUSIONS: The significantly lower RNFLT and perimetric scores in MS group patients without ON, compared with control group, may possibly be attributed to sub-clinical episodes of ON or to retrograde degeneration of nerve cells from sub-clinical post-chiasmal lesions. Blue-on-yellow perimetry may be advantageous over white-on-white perimetry in evaluating MS-associated functional defects. Eur J Neurol

Clin Exp Rheumatol

PURPOSE: POAG is a complex disease; therefore, families in which a glaucoma gene has been mapped may carry additional POAG genes. The goal of this study was to determine whether mutations in the myocilin (MYOC) gene on chromosome 1 are present in two POAG families, which have previously been mapped to the GLC1C locus on chromosome 3. METHODS: The three exons of MYOC were screened by denaturing (d)HPLC. Samples with heteroduplex peaks were sequenced. Clinical findings were compared with genotype status in all available family members over the age of 20 years. RESULTS: A T377M coding sequence change in MYOC was identified in family members of the Greek GLC1C family but not in the Oregon GLC1C family. Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG genes, suggesting that these two genes interact or that both contribute to the POAG phenotype in a cumulative way. Invest Ophthalmol Vis Sci

Acta Ophthalmol Scand

Over a period of 6 years, 23 patients (4 males and 19 females: mean age 56 years) who presented dry eyes developed 33 sterile corneal ulcers. Treatment included occlusion of the eyes or bandage soft contact lenses, prophylactic topical administration of antibiotics, punctal occlusions and currently available tear substitutes. Seventeen eyes healed completely without any corneal opacity and 10 eyes healed with opacity. Nine of the 33 eyes developed microbial keratitis. The causes of microbial keratitis were Staphylococcus aureus in 7 cases, beta-hemolytic Streptococcus in one and Pseudomonas aeruginosa in one case. The microbial keratitis was treated with intensive topical antibiotics. In 6 eyes, corneal perforation occurred. Rheumatoid arthritis coexisted in four cases. J Fr Ophtalmol

The authors present a clinical, epidemiologic and genetic study of juvenile macular dystrophy (Stargardt's disease) in a large kindred from Epirus in Greece. The family tree consists of 372 individuals spanning six generations over more than a century. 257 are direct descendants of the founding couple. Nineteen individuals were found to suffer from Stargardt's disease, thirteen of whom are still alive today. Segregation analysis of the data showed that in this pedigree, the disease is transmitted with the autosomal dominant mode of inheritance. J Fr Ophtalmol

The authors have accomplished an epidemiological clinical and genetic study on primary open-angle glaucoma among 411 persons in the North Western district of Greece (Epirus), belonging to 4 genealogical trees. 112 of the 411 persons were offsprings aged 30 years or more, alive or dead, and they had direct blood-relation to the propositus. 35 of these offsprings were suffering from primary open-angle glaucoma. The classification and the number of the affected subjects suggested that one major gene, expressed by the autosomal dominant character, is the main factor for the heredity of primary open-angle glaucoma in Epirus-Greece. J Fr Ophtalmol

PURPOSE: The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds. METHODS: Genomic DNA of 24 POAG-affected individuals from nine pedigrees with the Thr377Met mutation and 104 unaffected family members was genotyped with six microsatellite markers and four single nucleotide polymorphisms. The families were from Greece, India, Finland, the USA, and Australia. To assess the degree of linkage disequilibrium across MYOC in the general population we also investigated data generated from the HapMap consortium. RESULTS: Three distinct haplotypes associated with the Thr377Met myocilin mutation were identified. The families from the USA and Greece, as well as the three Australian families originating from Greece and the former Yugoslavian Republic of Macedonia had one common haplotype. Interestingly, however, HapMap data suggest that linkage disequilibrium across MYOC was not strong. CONCLUSIONS: The Thr377Met myocilin mutation has arisen at least three separate times. Evidence for genetic founder effects in this prevalent age-related, yet heterogeneous, disease has important implications for future gene identification strategies. Mol Vis