Cockayne syndrome is a very rare genetic disorder with a recessive autosomal inheritance. The disease is characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. We report here an Iranian family with one affected child who is suffering from Cockayne syndrome. Cardinal features were failure to thrive, short stature, premature aging, microcephaly, dysarthric speech, photosensivity, sunken eyes, and dental caries. There was no blindness or deafness, and the fundus examination showed tapetoretinal degeneration. Direct sequencing of all coding sequences of CSA and CSB genes, showed a novel mutation (c.2382+57G>T) in intron 10 of CSB that was not reported before. This variation might perturb splicing in CSB. However to prove the pathogenicity of this mutation mRNA analysis on fibroblast is planned to be investigated.

Ophthalmic Research Center, Labbafinejad Medical Center, Tehran, Iran Recent developments in pharmacotherapy for retinal disorders may be considered as a turning point in ophthalmology. The introduction of new therapies for devastating conditions such as age-related macular degeneration (AMD), the main cause of irreversible blindness in the elderly, stemmed from the tremendous work by Folkman and colleagues who identified the pivotal role of the vascular endothelial grow factor (VEGF) in angiogenesis. Later it was revealed that among the different subtypes of vascular endothelial grow factor, VEGF-A plays a key role in inducing angiogenesis in neovascular AMD.

Purpose: To determine the efficacy of simultaneous peripheral crescentic lamellar keratoplasty (LK) and central penetrating keratoplasty (PK) for advanced pellucid marginal degeneration (PMD). and compare it with the efficacy of Crescentic Wedge Resection (CWR).Methods: Simultaneous peripheral crescentic lamellar keratoplasty (LK) and central penetrating keratoplasty (PK) was done in the right eye and CWR in the left eye of a patient with advanced PMD., and the results of the two methods was compared.Results: Post-operatively flat anterior chamber (AC) and significant astigmatism which was not correctable with spectacles and hard lenses developed in the left eye. Visual acuity results were 5/10 (with piggyback lens) in the left eye and 4/10 (Uncorrected) in the right eye which increased to 6/10 with correction. No any other complication was seen in either eye.Conclusions: The short-term results with simultaneous peripheral crescentic lamellar keratoplasty (LK) and central penetrating keratoplasty (PK) were better than Crescentic Wedge Resection in our patient; and provided early and stable visual rehabilitation.