Department of Ophthalmology
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- 2013
- Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome
- The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
- Corneal manifestations and in vivo confocal microscopy of Gaucher disease
- Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT
- Proptosis and blindness caused by meningioma in a patient treated with cyproterone acetate
- 2012
- Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS)
- Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
- Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)
- Is ICGA still relevant in inflammatory eye disorders?: why this question has to be dealt with separately from other eye conditions
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness