Recent Submissions

  • A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

    Reddy, M. A.; Francis, P. J.; Berry, V; Bradshaw, K; Patel, R. J.; Maher, E. R.; Kumar, R; Bhattacharya, S. S.; Moore, A. T.; Kumar, R.; et al. (BMJ Publishing Group, 2003-02-01)
    Aim: To phenotype and genetically map the disease locus in a family presenting with autosomal dominant microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. Methods: Six affected and three unaffected members of the pedigree were examined. All individuals provided a history and underwent a full clinical examination with A-scan and B-scan ultrasonography and electrophysiological testing where appropriate. PCR based microsatellite marker genotyping using a positional candidate gene approach was then performed on DNA samples extracted from venous blood provided by each subject. Results: The disorder is inherited as an autosomal dominant trait with variable expressivity and has a complex phenotype. Affected individuals had bilateral microcornea, pulverulent-like lens opacities, a rod-cone dystrophy and posterior staphyloma (MRCS). Using a positional candidate gene approach, the authors have evidence suggestive of linkage of this disorder to a region on 11q13 within the nanophthalmos 1 (NNO1) genetic interval. The small family size militates against achieving a LOD score of 3, but the haplotype data and the position of the putative MRCS locus within a known nanophthalmos locus are suggestive of linkage. A candidate gene within this region (ROM1) was screened and no mutations were found in affected members of the family. Conclusion: This rare developmental disorder has some phenotypic similarities to nanophthalmos and possibly maps to a locus within the genetic interval encompassing the NNO1 locus. Screening of candidate genes within this region continues.
  • Axial length growth in eyes with childhood cataract does not follow norms

    Harris, Spencer James; Ghahghaei, Saeideh; Cunningham, Ian; Harb, Ashraf; Chandna, Arvind; Harb, Ashraf; Ophthalmology; Medical and Dental; The Smith-Kettlewell Eye Research Institute; Alder Hey Children's Hospital; George Eliot Hospital NHS Trust (Association for Research in Vision and Ophthalmology, 2021-06)
    Conference proceeding on Axial length growth in eyes with childhood cataract does not follow norms.