May 2003
Volume 44, Issue 13
ARVO Annual Meeting Abstract  |   May 2003
A New Cause of Congenital Blindness: Adenylosuccinase Lyase Deficiency
Author Affiliations & Notes
  • I. Carchon
    LPBD, Paris, France
  • P. Bitoun
    Medical Genetics, CHU Paris Nord, Hopital Jean Verdier, Bondy, France
  • m. Vincent
    ICP- GRM, Bruxelles, Belgium
  • B. Benzacken
    Embryo-Cyto-Genetics, CHU Paris Nord , Hopital Jean Verdier, Bondy, France
  • L. Benzacken
    Ophthalmology, Hopital Robert Ballanger, Aulnay Sous Bois, France
  • J. Bursztyn
    Ophthalmology, Hopital Saint Vincent de Paul, Paris, France
  • J. Gaudelus
    Pediatrie, CHU Paris Nord, Hopital Jean Verdier, Bondy, France
  • B. Heron
    Neurologie, CHU Paris Nord, Hopital Jean Verdier, Bondy, France
  • Footnotes
    Commercial Relationships  I. Carchon, None; P. Bitoun, None; M. Vincent, None; B. Benzacken, None; L. Benzacken, None; J. Bursztyn, None; J. Gaudelus, None; B. Heron, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 4885. doi:
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      I. Carchon, P. Bitoun, m. Vincent, B. Benzacken, L. Benzacken, J. Bursztyn, J. Gaudelus, B. Heron; A New Cause of Congenital Blindness: Adenylosuccinase Lyase Deficiency . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4885.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract: : Purpose:To identify and diagnose a new cause of congenital blindness using metabolic screening tests in patients with congenital blindness, seizures and psychomotor delay. Methods:Urinary Bratton-Marshall test was positive suggesting adenylosuccinase lysase deficiency (ADSLD)and confirmed by increased succinyl aminoimidazole carboxamide ribotide (SAICAR)in urine and succinyl adenosine by HPLC. ADSLD is a rare metabolic autosomal recessive disease of varying severity. Results:A 4 year girl with congenital blindness showed atrophic pigmented chorio retinal lesions bilaterally . She had hypotonia, seizures dysmorphic facies and psychomotor delay and was diagnosed with ADSLD with a positive Bratton Marshall test and urinary SAICAR found by HPLC. The ADSLD gene is mapped on chromosome 22q13.1-q13.2 and mutation analysis is in progress. A second patient had visual impairment with retinal involvment. Conclusions: Adenylosuccinase lyase deficiency should be considered as a cause of congenital blindness in children with psychomotor delay with or without seizures.

Keywords: metabolism • visual impairment: neuro-ophthalmological dise • chorioretinitis 

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