PubMed

Cataract surgery and primary intraocular lens implantation in children < or = 2 years old in the UK and Ireland: finding of national surveys.

Solebo AL, Russell-Eggitt I, Nischal KK, Moore AT, Cumberland P, Rahi JS; British Isles Congenital Cataract Interest Group.

Br J Ophthalmol. 2009 Nov;93(11):1495-8. Epub 2009 Jun 16.PMID: 19854739 [PubMed - in process]Related articles

A Mutant Connexin50 with Enhanced Hemichannel Function Leads to Cell Death.

Minogue PJ, Tong JJ, Arora A, Russell-Eggitt I, Hunt DM, Moore AT, Ebihara L, Beyer E, Berthoud VM.

Invest Ophthalmol Vis Sci. 2009 Aug 13. [Epub ahead of print]PMID: 19684000 [PubMed - as supplied by publisher]Related articles

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ.

Hum Mol Genet. 2009 Jul 15;18(14):2643-55. Epub 2009 May 4.PMID: 19414485 [PubMed - indexed for MEDLINE]Related articlesFree article

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.

Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT.

Clin Endocrinol (Oxf). 2009 Sep;71(3):376-82. Epub 2009 Mar 6.PMID: 19320653 [PubMed - indexed for MEDLINE]Related articles

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.

Sousa SB, Russell-Eggitt I, Hall C, Hall BD, Hennekam RC.

Am J Med Genet A. 2008 Dec 15;146A(24):3186-94.PMID: 19012331 [PubMed - indexed for MEDLINE]Related articles

Ophthalmological aspects of Pierson syndrome.

Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I.

Am J Ophthalmol. 2008 Oct;146(4):602-611. Epub 2008 Jul 31.PMID: 18672223 [PubMed - indexed for MEDLINE]Related articles

Bilateral macular scars following intrauterine herpes simplex virus type 2 infection.

Malik AN, Hildebrand GD, Sekhri R, Russell-Eggitt IM.

J AAPOS. 2008 Jun;12(3):305-6. Epub 2008 Apr 25.PMID: 18440255 [PubMed - indexed for MEDLINE]Related articles

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT.

Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9.PMID: 18055820 [PubMed - indexed for MEDLINE]Related articlesFree article

Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.

Goyal R, Thompson D, Timms C, Wilson LC, Russell-Eggitt I.

Eye (Lond). 2008 Feb;22(2):273-81. Epub 2007 Nov 2.PMID: 17975563 [PubMed - indexed for MEDLINE]Related articles

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma associated with 9p deletion syndrome.

Saha K, Lloyd IC, Russell-Eggitt IM, Taylor DS.

Ophthalmic Genet. 2007 Jun;28(2):69-72.PMID: 17558847 [PubMed - indexed for MEDLINE]Related articles

Saccadic instabilities in albinism without nystagmus.

Timms C, Thompson D, Russell-Eggitt I, Clement R.

Exp Brain Res. 2006 Oct;175(1):45-9. Epub 2006 May 23.PMID: 16718432 [PubMed - indexed for MEDLINE]Related articles

Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome.

Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J.

Clin Dysmorphol. 2006 Apr;15(2):111-3.PMID: 16531739 [PubMed - indexed for MEDLINE]Related articles

Intraocular Langerhans cell histiocytosis in a neonate resulting in bilateral loss of vision.

Boztug K, Frimpong-Ansah K, Nanduri VR, Lawson J, Russell-Eggitt I, Brock P.

Pediatr Blood Cancer. 2006 Oct 15;47(5):633-5.PMID: 16444678 [PubMed - indexed for MEDLINE]Related articles

The achiasmia spectrum: congenitally reduced chiasmal decussation.

Sami DA, Saunders D, Thompson DA, Russell-Eggitt IM, Nischal KK, Jeffrey G, Dattani M, Clement RA, Liasis A, Taylor DS.

Br J Ophthalmol. 2005 Oct;89(10):1311-7. Erratum in: Br J Ophthalmol. 2006 Jan;90(1):125. Jeffery, G [corrected to Jeffrey, G]; Liassis, A [corrected to Liasis, A]. PMID: 16170123 [PubMed - indexed for MEDLINE]Related articlesFree article

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.

McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA.

Br J Ophthalmol. 2005 Jul;89(7):831-4.PMID: 15965161 [PubMed - indexed for MEDLINE]Related articlesFree article

Heterozygous mutations of OTX2 cause severe ocular malformations.

Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.

Am J Hum Genet. 2005 Jun;76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334. PMID: 15846561 [PubMed - indexed for MEDLINE]Related articlesFree article

Management of intracorneal bleb after trabeculectomy for congenital glaucoma.

Dansingani KK, Al-Khaier A, Russell-Eggitt IM, Nischal KK.

Cornea. 2005 May;24(4):486-8.PMID: 15829811 [PubMed - indexed for MEDLINE]Related articles

New Alström syndrome phenotypes based on the evaluation of 182 cases.

Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM.

Arch Intern Med. 2005 Mar 28;165(6):675-83.PMID: 15795345 [PubMed - indexed for MEDLINE]Related articlesFree article

Juvenile xanthogranuloma with presumed involvement of the optic disc and retina.

Hildebrand GD, Timms C, Thompson DA, Atherton DJ, Malone M, Levitt G, Laidlaw DA, Russell-Eggitt I, Taylor DS.

Arch Ophthalmol. 2004 Oct;122(10):1551-5. No abstract available. PMID: 15477475 [PubMed - indexed for MEDLINE]Related articles

Joubert syndrome: long-term follow-up.

Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell-Eggitt I, Taylor DS, Kriss A.

Dev Med Child Neurol. 2004 Oct;46(10):694-9.PMID: 15473174 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM.

J Med Genet. 2004 Aug;41(8):e106. No abstract available. Erratum in: J Med Genet. 2005 Mar;42(3):288. J Med Genet. 2008 Apr;45(4):256. PMID: 15286166 [PubMed - indexed for MEDLINE]Related articlesFree article

Is early surgery for congenital cataract a risk factor for glaucoma?

Vishwanath M, Cheong-Leen R, Taylor D, Russell-Eggitt I, Rahi J.

Br J Ophthalmol. 2004 Jul;88(7):905-10.PMID: 15205235 [PubMed - indexed for MEDLINE]Related articlesFree article

Early proximal tubular dysfunction in Lowe's syndrome.

Laube GF, Russell-Eggitt IM, van't Hoff WG.

Arch Dis Child. 2004 May;89(5):479-80.PMID: 15102646 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

Indelman M, Hamel CP, Bergman R, Nischal KK, Thompson D, Surget MO, Ramon M, Ganthos H, Miller B, Richard G, Lurie R, Leibu R, Russell-Eggitt I, Sprecher E.

J Invest Dermatol. 2003 Nov;121(5):1217-20.PMID: 14708629 [PubMed - indexed for MEDLINE]Related articlesFree article

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM.

Br J Ophthalmol. 2004 Jan;88(1):79-83.PMID: 14693780 [PubMed - indexed for MEDLINE]Related articlesFree article

Chronic papilloedema due to intra-orbital Langerhans cell histiocytosis.

Werner K, Pritchard J, Lappi M, Russell-Eggitt I, Taskinen M, Heikinheimo M.

Med Pediatr Oncol. 2003 Dec;41(6):580-3. No abstract available. PMID: 14595725 [PubMed - indexed for MEDLINE]Related articles

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE.

Am J Hum Genet. 2003 Nov;73(5):1120-30. Epub 2003 Oct 16.PMID: 14564667 [PubMed - indexed for MEDLINE]Related articlesFree article

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype.

King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS.

Hum Genet. 2003 Nov;113(6):502-13. Epub 2003 Sep 10.PMID: 13680365 [PubMed - indexed for MEDLINE]Related articles

The morphology and natural history of childhood cataracts.

Amaya L, Taylor D, Russell-Eggitt I, Nischal KK, Lengyel D.

Surv Ophthalmol. 2003 Mar-Apr;48(2):125-44. Review.PMID: 12686301 [PubMed - indexed for MEDLINE]Related articles

Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

Russell-Eggitt IM, Leonard JV, Lund AM, Manoj B, Thompson DA, Morris AA.

Ophthalmic Genet. 2003 Mar;24(1):49-57.PMID: 12660866 [PubMed - indexed for MEDLINE]Related articles

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus.

Ragge NK, Hartley C, Dearlove AM, Walker J, Russell-Eggitt I, Harris CM.

J Med Genet. 2003 Jan;40(1):37-41.PMID: 12525540 [PubMed - indexed for MEDLINE]Related articlesFree article

Prediction of improved vision in the amblyopic eye after visual loss in the non-amblyopic eye.

Rahi JS, Logan S, Borja MC, Timms C, Russell-Eggitt I, Taylor D.

Lancet. 2002 Aug 24;360(9333):621-2.PMID: 12241937 [PubMed - indexed for MEDLINE]Related articles

Risk, causes, and outcomes of visual impairment after loss of vision in the non-amblyopic eye: a population-based study.

Rahi J, Logan S, Timms C, Russell-Eggitt I, Taylor D.

Lancet. 2002 Aug 24;360(9333):597-602.PMID: 12241931 [PubMed - indexed for MEDLINE]Related articles

Aetiology of congenital and paediatric cataract in an Australian population.

Wirth MG, Russell-Eggitt IM, Craig JE, Elder JE, Mackey DA.

Br J Ophthalmol. 2002 Jul;86(7):782-6.PMID: 12084750 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI.

Nat Genet. 2002 May;31(1):79-83. Epub 2002 Apr 8.PMID: 11941370 [PubMed - indexed for MEDLINE]Related articles

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.

Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK.

Nat Genet. 2002 May;31(1):74-8. Epub 2002 Apr 8.PMID: 11941369 [PubMed - indexed for MEDLINE]Related articles

Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.

Harrison C, Khair K, Baxter B, Russell-Eggitt I, Hann I, Liesner R.

Arch Dis Child. 2002 Apr;86(4):297-301.PMID: 11919112 [PubMed - indexed for MEDLINE]Related articlesFree article

Albinism.

Russell-Eggitt I.

Ophthalmol Clin North Am. 2001 Sep;14(3):533-46. Review.PMID: 11705153 [PubMed - indexed for MEDLINE]Related articles

Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

Russell-Eggitt IM.

Eye (Lond). 2000 Dec;14(Pt 6):861-3.PMID: 11584843 [PubMed - indexed for MEDLINE]Related articles

Should we aggressively treat unilateral congenital cataracts?

Taylor D, Wright KW, Amaya L, Cassidy L, Nischal K, Russell-Eggitt I, Lightman S, McCluskey P.

Br J Ophthalmol. 2001 Sep;85(9):1120-6. Review. No abstract available. PMID: 11520768 [PubMed - indexed for MEDLINE]Related articlesFree article

Epidemiological surveillance of rubella must continue.

Rahi J, Adams G, Russell-Eggitt I, Tookey P.

BMJ. 2001 Jul 14;323(7304):112. No abstract available. PMID: 11484683 [PubMed - indexed for MEDLINE]Related articlesFree article

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.

Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M.

Hum Genet. 2001 May;108(5):398-403.PMID: 11409867 [PubMed - indexed for MEDLINE]Related articles

Outcome of lens aspiration and intraocular lens implantation in children aged 5 years and under.

Cassidy L, Rahi J, Nischal K, Russell-Eggitt I, Taylor D.

Br J Ophthalmol. 2001 May;85(5):540-2.PMID: 11316711 [PubMed - indexed for MEDLINE]Related articlesFree article

Pharmaceutical management of the childhood glaucomas.

Talbot AW, Russell-Eggitt I.

Expert Opin Pharmacother. 2000 May;1(4):697-711. Review.PMID: 11249511 [PubMed - indexed for MEDLINE]Related articles

Hermansky-Pudlak syndrome presenting with subdural haematoma and retinal haemorrhages in infancy.

Russell-Eggitt IM, Thompson DA, Khair K, Liesner R, Hann IM.

J R Soc Med. 2000 Nov;93(11):591-2. No abstract available. PMID: 11198692 [PubMed - indexed for MEDLINE]Related articlesFree article

Vigabatrin-associated visual field defects in children.

Russell-Eggitt IM, Mackey DA, Taylor DS, Timms C, Walker JW.

Eye (Lond). 2000 Jun;14 ( Pt 3A):334-9.PMID: 11026995 [PubMed - indexed for MEDLINE]Related articles

A study of EEG, electroretinogram, visual evoked potential, and eye movements in classical lissencephaly.

Hodgkins PR, Kriss A, Boyd S, Chong K, Thompson D, Taylor DS, Russell-Eggitt I, Harris CM.

Dev Med Child Neurol. 2000 Jan;42(1):48-52.PMID: 10665975 [PubMed - indexed for MEDLINE]Related articles

Vertical or asymmetric nystagmus need not imply neurological disease.

Shawkat FS, Kriss A, Thompson D, Russell-Eggitt I, Taylor D, Harris C.

Br J Ophthalmol. 2000 Feb;84(2):175-80.PMID: 10655194 [PubMed - indexed for MEDLINE]Related articlesFree article

Visual-evoked potential evidence of chiasmal hypoplasia.

Thompson DA, Kriss A, Chong K, Harris C, Russell-Eggitt I, Shawkat F, Neville BG, Aclimandos W, Taylor DS.

Ophthalmology. 1999 Dec;106(12):2354-61.PMID: 10599670 [PubMed - indexed for MEDLINE]Related articles

A case of reversible blindness in maple syrup urine disease.

Backhouse O, Leitch RJ, Thompson D, Kriss A, Charris D, Clayton P, Russell-Eggitt I.

Br J Ophthalmol. 1999 Feb;83(2):250-1. No abstract available. PMID: 10396207 [PubMed - indexed for MEDLINE]Related articlesFree article