X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.

BACKGROUND: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable. AIM: To determine whether there is a correlation between mutation type and disease severity. METHODS: We identified the causative mutation in 86 affected patients and examined each of these patients in detail. Different categories of mutation were compared for each phenotypic characteristic. RESULTS: We found a reduction in visual acuity with increasing age and worsening macular pathology in patients over 30 years old (p < or = 0.001), but there was no correlation between mutation type and severity of disease. Furthermore, we found a wide variation in phenotype even within families. CONCLUSIONS: Identifying the causative mutation in patients with X-linked retinoschisis is helpful in confirming diagnosis and in counselling of family members but cannot be used to predict prognosis for an individual patient.

Deep corneal stromal opacities associated with long term contact lens wear.

BACKGROUND: One male and three female long term contact lens wearers (mean age 30.3 years; range 26-33) demonstrated unusual deep corneal stromal opacities which were predominantly just anterior to Descemet's membrane. None had any history of corneal dystrophy. These opacities were more common centrally, but were also identified in the corneal periphery. METHODS: All patients underwent routine ophthalmic examinations and, where appropriate, slit-lamp photography and specular microscopy. RESULTS: Mean lens wear in years and hours per day was 14.3 (range 10-17) and 14.3 (range 12-16) respectively. Specular microscopy disclosed cell densities within normal limits (mean 3041.5 cells per mm2) and coefficient of variation of mean cell area; COV = 0.31. Refractive errors ranged from -12.25 D to +6.25 best vision sphere and all four subjects attained at least 6/9 Snellen visual acuity. The subjects' contact lens wearing history included low water content hydroxymethylmethacrylate (HEMA) contact lenses and high water content HEMA contact lenses. Stromal opacity density was observed to diminish over a period of months on cessation of contact lens wear in two cases. CONCLUSION: The possible causes of these rarely reported opacities are discussed.

Blinding choroidal rupture in a karateka.

A case of uniocular visual loss secondary to trauma sustained during a competitive karate bout is reported.