Stickler's syndrome, retinal detachment

Consultant Ophthalmologist - Addenbrooke's Hospital NHS Foundation Trust, Cambridge
Associate Lecturer - University of Cambridge

Fellow Royal College - Ophthalmologists
Fellow Royal College Surgeons (England)
Fellow Royal Society of Medicine

Recent publications:
Posterior vitreous detachment: Current concepts and Management. Comprehensive Ophthalmology Update, Vol 6, 2005, “In press”

A rationale for membrane peeling in the repair of stage 4 macular holes. Eye. 2005, “In press”

Evidence for a second molecular mechanism resulting in the predominantly ocular form of Stickler syndrome : Alternative missplicing of a COL2A1 pathogenic mutation. Invest. Ophthalmol. Vis Sci., 2005, 46(2): 663 - 8.

Clinical features and surgical management of retinal detachment secondary to round retinal holes. Eye, 2005, 19, 665 - 669.

Clinical features of Type 2 Stickler syndrome. J. Med. Genet. 2004, Aug; 41(8): e107

Intraocular surgery for optic nerve disorders. Eye, 2004, 18 (11) :1056-65

Hyperconvolution of the inner limiting membrane in vitreomaculopathies. Graefes Arch Clin Exp Ophthalmol., 2004, 242 (10) :853-862

Scleral buckling surgery. Eye News, 2003, 9, 31 – 36.

Posterior vitreous detachment after neodymium:YAG laser posterior capsulotomy. J. Cat. and Refractive Surgery, 2003, 29, 930 – 934.

Mitral valve prolapse in Stickler syndrome. Am. J. Med. Genet., 2003, 116A: 234 – 237.

A frame shift mutation in a tissue specific alternatively spliced exon of collagen 2A1 in Wagner’s vitreoretinal degeneration. Am J Ophthalmol., 2002, 134 (3):473

National audit of the outcomes of primary surgery for rhegmatogenous retinal detachment (I) Sample and methods. Eye, 2002, Nov;16(6):766-70.

National audit of the outcomes of primary surgery for rhegmatogenous retinal detachment (II) Clinical outcomes. Eye, 2002, Nov;16(6):771-7.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. J Med Genet. 2002, Sep;39(9):661-5.

Clinical, histological and ultrastructural studies of the posterior hyaloid membrane. Eye, 2002, 16, 447 - 453

I graduated from London University in 1984 and trained in ophthalmic surgery in London, Nottingham, Cambridge and New York before being appointed as Consultant Ophthalmic Surgeon to Addenbrooke’s Hospital in 1996. I have a special interest in all aspects of retinal and vitreous surgery, especially surgery for the repair of retinal detachment, diabetic and macular disorders. I lead a Vitreoretinal Research Group at Cambridge University investigating the molecular pathology of retinal detachment, familial retinal detachment and the Stickler syndromes.

Molecular Pathology of Retinal Detachment