Childhood blindness in Qatar A high incidence of homocysteinuria

Childhood blindness in Qatar A high incidence of homocysteinuria

Richard Scawn, Dawn Sim, Charles Claoue Queens Hospital, Essex, UK Richard Scawn has received travel sponsorship from Rayner The authors have no financial interest in the subject of this e-poster The aim of our study was to determine the causes of childhood blindness in Qatar One previous survey of blindness in adults and children of Qatar was carried out in 1977 1 The State of Qatar is an Arab emirate bordered by Saudi Arabia and the Persian Gulf. With the discovery of oil in the 1940s came large changes in the socioeconomic wealth and population growth. It is estimated that only about 30% of the countrys population (>1.4million), are citizens.

All Qataris receive free medical care Qatars only blind school Opened in September of 1998 Provides a free education for citizens and residents Students with blindness, low vision, and special needs A visiting Ophthalmologist examined all children attending the Al-Noor Institute The classification method used was that of the British

Ophthalmological Surveillance Unit (BOSU) study 3 (1) entirely unavoidable/untreatable, (2) entirely preventable, or (3) potentially treatable Outcomes of the consultation were grouped into 7 categories, including recommendations for (1) surgery, (2) further investigations, (3) low vision assessment, (4) refraction / contact lens / glasses, (5) mainstream school, (6) blind school(7) blind school with special needs 211 children examined Causes of Childhood blindness in the Al-Noor Institute 180 168 160 140 120 100 80 60 Number of Children 40

43 20 0 Genetic Acquired Genetic causes Total (%) Acquired causes Total (%) Microphthalmia Lebera Amaurosis Retinitis Pigmentosa High Myopia Retinal detachment Congenital Cataracts Homocystinuria Congenital Glaucoma Albinism Congenital nystagmus Cone Dystrophy Squint/Refractive/ Ambylopia

Congenital Ptosis Corneal Opacities (Genetic) Neurological (Genetic) 18 (11) 17 (10) 5 (3) 13 (8) 8 (5) 14 (8) 41 (19) 17 (10) 4 (2) 5 (3) 2 (1) 10 (6) 1 (1) 17 (10) 7 (4) Corneal Opacities (Acquired) Neurological (Acquired) Retinopathy of Prematurity Squint / Ambylopia Congenital Ptosis Macular Coloboma 5 (12)

Total 168 (79) 13 (30) 13 (30) 10 (23) 1 (2) 1 (2) 43 (21) Entirely unavoidable/untreatable 65 (30.8%) Entirely preventable 25 (11.8%) Retinopathy of prematurity Traumatic brain injury Refractive error/Ambylopia 13 1 11

Potentially treatable 121 (57.3%) High Myopia Retinal detachment Congenital Cataracts Homocystinuria Congenital Glaucoma Corneal opacities Cerebral palsy Hydrocephalus 13 8 14 41 17 22 4 2 Categories 1977 Current Difference

(%) Trachoma 36 0.5 -35.6 Infectious diseases 6.1 1.4 -4.7 Retinal disease 15.0 27 +12.0 Trauma 23.8

1.4 -22.4 Genetically determined 17.0 79.8 +62.6 Homocystinuria was by far the most common single diagnosis. In this group further intervention via cataract surgery or YAG laser capsulotomy required in 17% (n=7), refraction or low vision assessment was needed in 63% (n=26). A small number of these children (n=4, 9.8%) had visual acuities that would enable

them to attend mainstream school. Homocystinuria incidence Western Europe: 1 in 20,000-60,000 Norway: 1 in 6400 Qatar: 1 in 3125 5 4 Original Qatari tribes amount to about 200,000 people Until the beginning of the 20th century the local Qatari tribes were genetically isolated, with a high level of intermarriage. As in other Gulf States today it is still common for firstor second-degree cousins to marry6. 54% in Qatari population7 Consequent founder effects are responsible for the high

prevalence and unusual burden of inherited disorders in Qatari population8 There has been a dramatic shift in the leading cause of blindness following economic development in Qatar In our study genetic diseases account for almost 80% Improved education, genetic counseling and screening programs8 may reduce the future incidence of genetically determined causes of blindness in Qatar 1. 2. 3. 4. 5. 6.

7. 8. Hosni FA. Survey of major blinding conditions in Qatar. Ophthalmologica. 1977; 175(4):215-21. Vision for Children. A global overview of blindness, childhood and VISION2020: the right to sight. World Health Organization (WHO) and the International Agency for the Prevention of Blindness (IAPB). www.v2020.org. Accessed April 2009. Durnian JM, Cheeseman R, Kumar A, Raja V, Newman W, Chandna A. Eye. Childhood sight impairment: a 10-year picture. 2009 Feb 27. Mudd SH, Levy HL, Kraus JP. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGrawHill. 2001 p 2007-56. El-Said MF, Badii R, Bessisso MS, Shahbek N, El-Ali MG, El-Marikhie M, El-Zyoid M, Salem MS, Bener A, Hoffmann GF, Zschocke J. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum Mutat. 2006; 27(7):719. Al-Gazali LI, Bener A, Abdulrazzaq YM, Micallef R, al-Khayat AI, Gaber T. Consanguineous marriages in the United Arab Emirates. J Biosoc Sci 1997; 29:491-7. Bener A, Alali KA.Consanguineous marriage in a newly developed country: the Qatari population. J Biosoc Sci. 2006; 38(2):239-46. Lindner M, Abdoh G, Fang-Hoffmann J, Shabeck N, Al-Sayrafi M, Al-Janahi M, Ho S, Abdelrahman MO, Ben-Omran T, Bener A, Schulze A, Al-Rifai H, Al-Thani G, Hoffmann GF. Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis. 2007; 30(4):522-9.

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