A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy

<p><b>INTRODUCTION</b>In this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.</p><p><b>MATERIALS AND METHODS</b>Ophthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to the 11 exons of the gene.</p><p><b>RESULTS</b>Sequence analysis identified a previously unreported C to G change, predicting a Phe-113-Leu substitution. Both the proband and his sister harboured this novel mutation. Each had bilateral vitelliform lesions.</p><p><b>CONCLUSIONS</b>A novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.</p>

Clinical features of autosomal dominant retinitis pigmentosa associated with a Rhodopsin mutation

<p><b>INTRODUCTION</b>Retinitis pigmentosa (RP) describes a group of inherited disorders characterised by progressive retinal dysfunction, cell loss and atrophy of retinal tissue. RP demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and identify the disease-causing mutation, and then to describe the phenotypic presentation of this family.</p><p><b>MATERIALS AND METHODS</b>Ophthalmic examination was performed on 46 family members to identify affected individuals and to characterise the disease phenotype. Family pedigree was obtained. Some family members also had fundus photographs, fluorescein angiography, and/or optical coherence tomography (OCT) analysis performed. Genetic linkage was performed using short tandem repeat (STR) polymorphic markers encompassing the known loci for autosomal dominant RP. Finally, DNA sequencing was performed to identify the mutation present in this family.</p><p><b>RESULTS</b>Clinical features included nyctalopia, constriction of visual fields and eventual loss of central vision. Sequence analysis revealed a G-to-T nucleotide change in the Rhodopsin gene, predicting a Gly-51-Val substitution.</p><p><b>CONCLUSIONS</b>This large multi-generation family demonstrates the phenotypic variability of a previously identified autosomal dominant mutation of the Rhodopsin gene.</p>

Intravitreal triamcinolone acetonide for the treatment of diffuse diabetic macular oedema--a case report

<p><b>INTRODUCTION</b>Although laser photocoagulation is the primary treatment for diabetic macular oedema, treatment of eyes with diffuse macular oedema has been disappointing. Intravitreal injection of steroids is being investigated for the treatment of diabetic macular oedema. Preliminary results indicate that steroid injections do improve macular oedema, but it is not clear if they improve visual acuity.</p><p><b>CLINICAL PICTURE, TREATMENT, AND OUTCOME</b>In this report, we describe a patient with a form of diffuse diabetic macular oedema that responded favourably to intravitreal steroid injections, with improvements in both foveal thickness and visual acuity.</p><p><b>CONCLUSION</b>Intravitreal steroids can be useful for the treatment of diffuse diabetic macular oedema.</p>