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Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seven heterozygous mutations in growth differentiation factor 6 (GDF6), a member of the BMP family, in patients with both ocular and vertebral anomalies, characterized their effects with a SOX9-reporter assay and western analysis, and demonstrated comparable phenotypes in model organisms with reduced Gdf6 function. We observed a spectrum of ocular and skeletal anomalies in morphant zebrafish, the latter encompassing defective tail formation and altered expression of somite markers noggin1 and noggin2. Gdf6(+/-) mice exhibited variable ocular phenotypes compatible with phenotypes observed in patients and zebrafish. Key differences evident between patients and animal models included pleiotropic effects, variable expressivity and incomplete penetrance. These data establish the important role of this determinant in ocular and vertebral development, demonstrate the complex genetic inheritance of these phenotypes, and further understanding of BMP function and its contributions to human disease.

Nearly half of non-traumatic cataract in south India is due to potentially preventable causes (CRS and autosomal dominant disease). There is need for further work to identify the factors leading to childhood cataract in at least half of the cases for which no definite cause can as yet be determined.

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Aims-To assess the long term results of intraocular lens (IOL) implantation for traumatic cataract in young children in a developing country. Methods-Prospective hospital based study of 52 children (age 2-10 years) undergoing unilateral cataract extraction and IOL insertion for traumatic cataract performed by a single surgeon in south India. Children were reviewed regularly and followed up initially for 3 years. Results-There were no serious operative complications. Clinically significant posterior capsule opacification was almost universal (92%) and YAG capsulotomy or membranectomy was performed on 48 eyes. Some degree of pupil capture affected 35% of eyes and was complete in 6%. Visual acuity was 6/12 or better in 67% of eyes at the last follow up examination. Conclusion-The visual acuity results 3 years after implantation of posterior chamber IOLs in older children with traumatic cataracts in south India were encouraging. In developing countries where follow up is unreliable it is essential to plan to clear the axial part of the posterior capsule either at the time of surgery or soon afterwards. (Br J Ophthalmol 1998;82:911-915) The use of intraocular lenses (IOLs) in infants and young children remains a controversial subject but there have now been many reports from the developed world which show good visual results following posterior chamber lens implantation in children older than 1 year.In developing countries contact lenses are not an option for correction of aphakia following unilateral cataract extraction and IOLs oVer the only realistic solution to early and good visual rehabilitation. In many developing countries aVordable high quality IOLs are now readily available.