Ismail K Jalili


CNNM4 Mutations
New Syndromes
Jalili Syndrome
Childhood Blindness
Charts & Tables
Clinical Images

Publications and Presentations

  Ophthalmic Genetics
Other Ophthalmic

Other Research Projects

Publications by Peers on the Jalili syndrome and CNNM4

Ophthalmic Genetics
  Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Jalili IK.  Eye 2010; 24, 1659-1668. Author's Manuscript  htm / pdf

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta [Pubmed] / pdf version
Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF. American Journal of Human Genetics; 2009:84:266273. [Pubmed] 
The gene was found simultaneously by Polok and Colleagues. See American Journal of Human Genetics. 2009,84:259-65. [Pubmed] 

  Amelogenesis Imperfecta and Central Blindness: An Inherited Syndrome.
Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Blain K, Mansfield D, Moore AT and Inglehearn CF. International Association for Dental research (IADR), July 2008. Link to the article

Jalili Syndrome - Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI); Six Families and Consistent Linkage to 2q11.
Inglehearn CF, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Carlos R, Blain KM, Mansfield DC, Moore AT, Mighell AJ.

  Jalili Syndrome - Cone-Rod Dystrophy (CRD) and Amelogenesis Imperfecta (AI); Six Families and Consistent Linkage to 2q11.  ARVO Presentation
Inglehearn CF, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Carlos R, Blain KM, Mansfield DC, Moore AT, Mighell AJ.  (The Association for Research in Vision and Ophthalmology (ARVO) 2008. 
  Increased band sharing in DNA fingerprints of an inbred human population.  Bellamy RJ, Inglehearn CF, Jalili IK, Jeffreys AJ, Bhattacharya SS.  Human Genetics 1991;87:341-347. (Pubmed)
The paper have demonstrated that moderate but prolonged inbreeding can lead to increased similarity in human DNA fingerprints. This should be considered when analysing DNA fingerprints in forensic or paternity cases involving members of an inbred community.
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. 
Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF. European Journal of Human Genetics 2002:19,865-860. [Pubmed]
  Congenital onset central chorioretinal dystrophy associated with high myopia:
Iqbal M, Jalili IK.
Eye 1998;12:260-265.  [Pubmed]
  Cone rod congenital amaurosis associated with congenital hypertrichosis:  an autosomal recessive condition. 
Jalili IK.  Journal of Medical Genetics, 1989;26:504-510.
(Pubmed)  - (OMIM 204110)
  A syndrome of amelogenesis imperfecta associated with cone-rod dystrophy: dental and ophthalmic findings - abstract. 
Jalili IK, Smith NJD. Journal of Dental Research 1988.
  A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. (OMIM 217080)
Jalili IK, Smith NJD.  Journal of Medical Genetics, 1988;25:738-740.  [Pubmed)     
Sadly Professor David Smith died in March 2010 - A tribute to Professor David Smith
Other Publications

Topical Beta Blockers and Essential Tremors: a case report - Letter to the Editor
IK Jalili, S Sen, McVicar S

  Ophthalmic Primary Care: The Warrington Model. 
Peckar CO, Wishart MS, Jalili IK, Mathews P. European J of Implant and Refractive Surgery 1994:6:1:2-5.  
  E coli panophthalmitis with orbital cellulitis.
Burns SJ, Scott JA, Hiscott PS, Hebbar G, Kamauddin J, Jalili IK.
Eye. 1997;11 ( Pt 3):436-8. 

Diclofenac-Gentamicin combination eye drops versus Diclofenac eye drops after cataract surgery. (abstract) / pdf
D Chitkara, N Ray-Chaudhuri, N Suong, IK Jalili, M IqbaI, M Iqbal, TT Shetty, P Phelan, P Sunderraj.
SOE 95 - Xth European Congress of the Society of Ophthalmology, Milan, Italy, 25-29 June 1995.

Synopses on post-traumatic headache (PTH) and related topics: a review. Electronic publication. Jalili IK. (Reprint)

Medical Publications as a performance indicator of higher education: A comparative Study.
Presented at the International Conference of Higher Education in Iraq, Erbil, 10-13 December 2007 


Blindness in Sudan: a predicament in a turbulent sea of darkness
Presented at BAFOSS Meeting, London, 14-15 July 2005 (revised on 17 July 2005).  (see BAFOSS conference recommendations)

Childhood onset visual impairment in the highly inbred communities. Arabisches Arzteblatt 2001;11:51-3.

Primary Open Glaucoma: Current Concepts
Talk to GPs and other health professionals.  Last revised Winter 1996

Synopses on Post-traumatic headache (PTH) and related topics   (pdf file)

  Two types of cone-rod dystrophy: affinities and evolution of macular changes. 
Jalili.  Presented at the Alumni Meeting, Moorfields Eye Hospital, 1990.
  Two types of cone‑rod dystrophy: Intrafamilial and interfamilial variability in 18 sibships. (Reprint)
IK Jalili. Presented at the College of Ophthalmologists Annual Conference, Harrogate , 24-27 April 1990.
  Blindness from congenital glaucoma in the West Bank and Gaza Strip: anatomic classification and genetic analysis.
Chumbley LC, Jalili IK. Oxford Ophthalmological Congress, July 1991.
Other Publications
  Ectopia lentis with hypogentalia: a new association. 
IK Jalili
.  Presentation at the Annual Congress of the College of Ophthalmologists , Queen Elizabeth II Conference Centre, London 2-5 April 1992. (Click here for a downloadable version)

Diclofenac-Gentamicin combination eye drops versus Diclofenac eye drops after cataract surgery. (abstract) / pdf
D Chitkara, N Ray-Chaudhuri, N Suong, IK Jalili, M IqbaI, M Iqbal, TT Shetty, P Phelan, P Sunderraj.
SOE 95 - Xth European Congress of the Society of Ophthalmology, Milano, Italy, 25-29 June 1995.

Audit of the Primary Care Clinics in Halton and Warrington. Jalili IK,   presented at Warrington Hospital 1993.
 Audit of Primary Care Service in Warrington.  Presentation to the Mersey Purchasers and Consultants, IK Jalili, autumn 1993.
  Central areolar choroidal dystrophy: a congenital form associated with high myopia.
Jalili IK, Iqbal M.  Presented at the Annual Congress of the Royal College of Ophthalmologists, Guernsey 1994.
  The Efficacy of Red-tinted Glasses in Retinal Dystrophy Abstract / Presentation (pdf)
IK Jalili and S Sen. Presented at The Oxford
Ophthalmological Congress, July 1994.
  Prospective study on the incidence of ocular disease in Warrington, a town in North West England.
Wishart MS, Jalili IK, Peckar CO, Mathews P. Presentation at   Montpelier
, France Oct 15‑19 1994.
  A single masked clinical trial between the combination Diclofenac-Gentamicin (DR1352/1) eye drops and Diclofenac Sodium (Voltarol OphthaR) eye drops in 260 subjects undergoing extracapsular cataract surgery.
Multi authors.  Presented at the Xth Congress of the European Society of Ophthalmology Milan, June 1995 - also published later.
  Childhood Onset Blindness in MENA and highly inbred communities.
Presented at the 18th Annual Conference of Union Arabischer Mediziner in Europa, Dubai January 2001.
Spectrum of retinal dystrophies in MENA: Findings in 316 cases. I K Jalili
Posttraumatic headaches syndrome and facial pain (In text).  (click here for pdf version in text)
  Ciliopathies: List. Jalili IK, Short Review. htm / pdf
  Childhood Blindness Worldwide  / pdf
  Childhood Blindness Middle East and North Africa (MENA) /  pdf
  Prevention of Blindness  / pdf
  Consanguinity / pdf
Common Blinding Conditions in the Thirs World pdf
Blindness Worldwide pdf
Blindness in the Middle East pdf
Childhood Blinmdness Worldwide pdf
Prevention of Blindness and VISION 2020 pdf
Synopsis on post-traumatic headache syndrome (PTH) and related topics.  pdf format
  Reviews on blindness, childhood blindness and other related demographic issues - refer to ebook.
Review on Consanguinity
  Diabetic eye disease in Diabetic Care and Screening: Published in the hospital Information booklet.
Jalili IK, Warrington Diabetic Service Booklet, 1993.  
  Audit of the Treatment Ophthalmic Centre in North Wales 1990-1992
Reported presented to the Welsh Office in 1994
Prevention of Blindness in the Occupied Palestinian Territories.  Report to the Christoffel Blinden Mission, 1987.
Service development in North Wales. 1991
Children screening policy, North Wales, 1992
  Other Research projects
Effect of sub-tenon anaesthesia on corneal sensation, 2001.  
  Recurrent bilateral anterior uveitis: a stress related condition.

IK Jalili, Emad Salib, S Sen.  The correlation between acute episodes of stress and the onset of acute anterior uveitis. Warrington and St Helens, 1994.
  Correlation between meibomian glands dysfunction and plasma lipids levels in patients with abnormal tear film/ dry eyes with excess lipid in tear film. IK Jalili 1993.  

Diclofenac-Gentamicin combination eye drop versus Diclofenac eye drops after cataract surgery:

Multi-centre drug trial - from April 1993 - January 1994: A clinical trial in 260 subjects undergoing extracapsular cataract surgery. This was a single-masked, comparative, prospective, balanced-randomised study between subjects (parallel group) from seven centres (Aberdeen, Carlisle, Falmouth, Newcastle, Sunderland, Warrington and Wigan) to compare the efficacy, safety and local tolerance of Diclofenac-Gentamicin in the post operative treatment of subjects who had undergone extracapsular cataract surgery with intraocular lens implantation. We contributed to 20% of cases. Bacteriology control was conducted in Warrington .

  Blind Schools Survey - The West Bank and Gaza Strip

This work commenced in 1985 and lasted approximately two years.  It is based on a study of the epidemiology and pattern of disease causing childhood blindness in pupils at blind schools and institutions in the West Bank and Gaza Strip and presents findings in 630 patients from approximately 350 sibships and includes screening of over 2000 family members.  The work comprises full ophthalmic and medical assessment, genetic histories (including full pedigree charts on all the families) and an epidemiological survey of the region. This work was planned and undertaken following my observations of the high numbers of patients presenting in the Outpatient Department of St John's Ophthalmic Hospital, Jerusalem with visual impairment from childhood.  Resulting from this, there was a collaboration with the Medical Research Council Laboratory, Newcastle upon Tyne on the genetic mapping of some of the pedigrees resulting from my research.
  Protocol on performing peripheral iridotomies using Nd:Yag laser
Work on a protocol on the use of ND:Yag laser in performing iridotomies at Moorfields Eye Hospital, at both the professorial and Glaucoma Units, 1983. 
  Effect of Nd:Yag laser on human tissues
Participation in research on the effect of the Nd:Yag laser on cadaveric eyes at the Institute of Ophthalmology,1982.
  Effect of Argon/Krypton lasers on the retinal functions:  
This work was carried out at Moorfields Eye Hospital , in collaboration with Professor G Arden, Mr AMP Hamilton, Mr R Doran and Mrs J Birch.  September 1982 to December 1983. (Project co-ordinator).


Ismail K Jalili 2000-2016