Skip to main content
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1977 May;52(5):399–402. doi: 10.1136/adc.52.5.399

Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases.

M J Vaizey, M D Sanders, K C Wybar, J Wilson
PMCID: PMC1544560  PMID: 869570

Abstract

A retrospective study was made of 30 children with Leber's amaurosis (congenital retinal blindness). 24 presented with severe visual impairment, typical ophalmological findings, and absent electroretinograms. 6 other children, though presenting with marked visual loss and absent electroetinograms were later shown to be less severely affected. Some of the more severely affected children had associated neurodevelopmental or renal abnormalities.

Full text

PDF
400

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abraham F. A., Yanko L., Licht A., Viskoper R. J. Electrophysiologic study of the visual system in familial juvenile nephronophthisis and tapetoretinal dystrophy. Am J Ophthalmol. 1974 Oct;78(4):591–597. doi: 10.1016/s0002-9394(14)76295-6. [DOI] [PubMed] [Google Scholar]
  2. Betts P. R., Forrest-Hay I. Juvenile nephronophthisis. Lancet. 1973 Sep 1;2(7827):475–478. doi: 10.1016/s0140-6736(73)92072-2. [DOI] [PubMed] [Google Scholar]
  3. DANIEL P. M., WHITTERIDGE D. The representation of the visual field on the cerebral cortex in monkeys. J Physiol. 1961 Dec;159:203–221. doi: 10.1113/jphysiol.1961.sp006803. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Dekaban A. S. Familial occurrence of congenital retinal blindness and developmental renal lesions. J Genet Hum. 1969 Oct;17(3):289–296. [PubMed] [Google Scholar]
  5. Dekaban A. S. Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. Am J Ophthalmol. 1969 Dec;68(6):1029–1037. doi: 10.1016/0002-9394(69)93443-6. [DOI] [PubMed] [Google Scholar]
  6. Dekaban A. S. Mental retardation and neurologic involvement in patients with congenital retinal blindness. Dev Med Child Neurol. 1972 Aug;14(4):436–444. doi: 10.1111/j.1469-8749.1972.tb02616.x. [DOI] [PubMed] [Google Scholar]
  7. Dekaban A., Carr R. Congenital amaurosis of retinal origin. Frequent association with neurological disorders. Arch Neurol. 1966 Mar;14(3):294–301. doi: 10.1001/archneur.1966.00470090066009. [DOI] [PubMed] [Google Scholar]
  8. HENKES H. E., VERDUIN P. C. Dysgenesis or abiotrophy? A differentiation with the help of the electro-retinogram (ERG) and electro-oculogram (EOG) in Leber's congenital amaurosis. Ophthalmologica. 1963;145:144–160. doi: 10.1159/000304422. [DOI] [PubMed] [Google Scholar]
  9. Harden A. Non-corneal electroretinogram. Parameters in normal children. Br J Ophthalmol. 1974 Sep;58(9):811–816. doi: 10.1136/bjo.58.9.811. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Harden A., Pampiglione G., Picton-Robinson N. Electroretinogram and visual evoked response in a form of 'neuronal lipidosis' with diagnostic EEG features. J Neurol Neurosurg Psychiatry. 1973 Feb;36(1):61–67. doi: 10.1136/jnnp.36.1.61. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Hussels I. E. Congenital amaurosis and nephrophthisis: a new syndrome. Birth Defects Orig Artic Ser. 1971 Mar;7(3):199–199. [PubMed] [Google Scholar]
  12. KINCAID J. C. SOCIAL PATHOLOGY OF FOETAL AND INFANT LOSS. Br Med J. 1965 Apr 17;1(5441):1057–1060. doi: 10.1136/bmj.1.5441.1057. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. LOKEN A. C., HANSSEN O., HALVORSEN S., JOLSTER N. J. Hereditary renal dysplasia and blindness. Acta Paediatr. 1961 Mar;50:177–184. doi: 10.1111/j.1651-2227.1961.tb08037.x. [DOI] [PubMed] [Google Scholar]
  14. MEIER D. A., HESS J. W. FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS. Am J Med. 1965 Jul;39:58–69. doi: 10.1016/0002-9343(65)90245-7. [DOI] [PubMed] [Google Scholar]
  15. Mainzer F., Saldino R. M., Ozonoff M. B., Minagi H. Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med. 1970 Oct;49(4):556–562. doi: 10.1016/s0002-9343(70)80051-1. [DOI] [PubMed] [Google Scholar]
  16. SCHAPPERT-KIMMIJSER J., HENKES H. E., VAN DEN BOSCH J. Amaurosis congenita (Leber). AMA Arch Ophthalmol. 1959 Feb;61(2):211–218. doi: 10.1001/archopht.1959.00940090213003. [DOI] [PubMed] [Google Scholar]
  17. SENIOR B., FRIEDMANN A. I., BRAUDO J. L. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol. 1961 Nov;52:625–633. doi: 10.1016/0002-9394(61)90147-7. [DOI] [PubMed] [Google Scholar]
  18. Schimke R. N. Hereditary renal-retinal dysplasia. Ann Intern Med. 1969 Apr;70(4):735–744. doi: 10.7326/0003-4819-70-4-735. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES