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Childhood Onset Visual Impairment and Blindness

Results of the Blind Schools Survey in the West Bank and Gaza Strip 

between 1985-1987 

Ismail K Jalili

MB;BCh, FRCS, DO, FRCOphth

First published on the web in 2005

  i Contents  
  ii Acknowledgement  
  iii Preface  
iv Abbreviations
    Abstract  
    Summary  
  Introductions    
  1.1 Historical Preamble  
  1.2 History and Geography of the Region  
  1.3 Demography of the Arab World and Palestine  
  1.4 Aims and Objectives of the Blind Schools Survey  
Review of Literature on Blindness
  2.1 Historical Aspects and Data Collection  
  2.2 Blinding Conditions  
  2.3 Blindness Worldwide  
  2.4 Blindness in the Middle East Crescent (including the Arab & Muslim World)  
  2.5 Childhood Blindness Worldwide  
  2.6 Childhood Blindness in the Middle East Crescent  
  2.7 Prevention of Blindness  
  2.8 Consanguinity  
       
Patients and Methods
Results Of survey of childhood onset visual impairment and blindness
  3.1 Patients, Sibships and Pedigrees  
  3.2 Visual Acuities  
  3.3 Anatomical Classifications of Causes of Visual Impairment  
  3.4 Aetiological Classifications of Causes of Visual Impairment  
  3.5 Non-Hereditary Conditions of Causes of Visual Impairment  
  3.6 Clinical Conditions in the survey  
  3.7 Marriage Patterns  (Consanguinty) - click for Gaza A pedigree chart Jalili Syndrome  
  3.8 Prevalence and Family Information  
Conclusions  
  4.1 Discussion  
  4.2 Summary of Findings  
Bibliography References
Appendices
ap1 Instruction Booklet 
(Basic instructions to nurses and paramedics that were used during the blind schools survey
  in the West Bank & Gaza Strip between October 1985 to 1987).
ap2 Proposed Prevention Programme: Recommendations - (1987)
In conjunction with Dr Peter Qumri, Consultant Surgeon, Friends of the Sick Society, Bethlehem
Colour Plates (Photographs)
       
  a   Photographs of St John Ophthalmic Hospital, Jerusalem  
  b   Photographs on the history of Palestine  
  c   Photographs of the outpatient clinics  
  d   Photographs from Southern Sudan  
  e   Photographs on the Screening in the Gaza Strip, 1985-1987  
  f   Photographs of the Blind schools and UNRWA Training Centre in Gaza 1985-1978  
  g   Photographs of corneal infection from measles from an epidemic in 1914  
  h   Photographs of cases of trauma from bomb explosion in Gaza Strip  
  i   Photographs of congenital corneal oedema  
  j   Photographs of syndromatic ectopia lentis with hypogentalia  
  k   Photographs of advanced congenital glaucoma  
  l   Photographs of the spectrum of microphthalmia from Gaza Strip  
  m   Photographs of albinism in large pedigrees.  
n   Photographs of skin lesions in albinism.
  o   Photographs of the evolution of macular changes in cone-rd dystrophies  
  p   Photographs of the evolution of lesions in amelogenesis imperfecta  
  q   Photographs of trichomegaly with congenital hypertrichosis and congenital amaurosis of the cone-rod  
  r   Photographs of severe photophobia improvement with dark tinted filter (red glasses)  
  s   Photographs of advanced metastasised retinoblastoma in a Palestinian child (terminal)  
  t   Photographs of extra digits, leucocoria as a result of optic nerve hypoplasia  
  u   Photographs shanty town in Jabalia camp, 1985-1987  
  v   Photographs of the states of roads in the Gaza Strip 1985-1987  
Pedigree Charts (Gaza A: Cone Rod Dystrophy & Amelogenesis Imperfecta -Jalili Syndrome #1)
       
      Publications arising from the study  
   

 


Syndrome of cone-rod dystrophy and amelogenesis imperfecta (syndrome #1)

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.  (OMIM 217080)
Jalili IK, Smith NJD.  Journal of Medical Genetics, l988;25:738-740.
 Pubmed Central

With a great sadness we announce the death of professor David Smith in March 2010


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.

Linkage

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.

Mutations

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
(PubMed Central)
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; 2009:84:266–273.
(The gene was found simultaneously by Polok and Colleagues. See American Journal of Human genetics. 2009,84:259-65).
 

 
      Cone-rod congenital amaurosis with hypertrichosis and trichomegaly (syndrome #2)

Cone rod congenital amaurosis associated with congenital hypertrichosis:  an autosomal recessive condition. 
Jalili IK.  Journal of Medical Genetics, l989;26:504-5l0.
(Reprint  - OMIM 204110)
 

 
      Chrioretinal macular dystrophy associated with high myopia (syndrome #3)

Congenital onset central chorioretinal dystrophy associated with high myopia:
Iqbal M, Jalili IK.
Eye 1998;12:260-265. Reprint Request

 
         
         
         
       

  

                                         IK Jalili, Consultant Ophthalmologist, Local Government Councillor, 2000-2010©