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. 1989 Apr;73(4):250–254. doi: 10.1136/bjo.73.4.250

Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.

I M Russell-Eggitt 1, D S Taylor 1, P T Clayton 1, A Garner 1, A Kriss 1, J F Taylor 1
PMCID: PMC1041708  PMID: 2713302

Abstract

Seven members of four families had nystagmus noted by 4 months of age, poor vision, photophobia, and a markedly reduced or absent electroretinogram. Six of these patients had a life threatening episode of cardiac failure in infancy. There were also two neonatal deaths, and one of the affected children died at 2 years and one at 19 years. The five surviving children are well, remain with nystagmus, and have visual acuities of less than 6/60, with the eldest two having lost perception of light. They have a short obese habitus distinct from that of their unaffected siblings and parents.

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Selected References

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

  1. 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]
  2. 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]
  3. Edwards W. C., Macdonald R., Jr, Price W. D. Congenital amaurosis of retinal origin (Leber). Am J Ophthalmol. 1971 Oct;72(4):724–728. doi: 10.1016/0002-9394(71)90009-2. [DOI] [PubMed] [Google Scholar]
  4. Edwards W. C., Macdonald R., Jr, Price W. D. Congenital amaurosis of retinal origin (Leber). Am J Ophthalmol. 1971 Oct;72(4):724–728. doi: 10.1016/0002-9394(71)90009-2. [DOI] [PubMed] [Google Scholar]
  5. Egger J., Lake B. D., Wilson J. Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy. Arch Dis Child. 1981 Oct;56(10):741–752. doi: 10.1136/adc.56.10.741. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Ek J., Kase B. F., Reith A., Björkhem I., Pedersen J. I. Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome. J Pediatr. 1986 Jan;108(1):19–24. doi: 10.1016/s0022-3476(86)80763-6. [DOI] [PubMed] [Google Scholar]
  7. Ellis D. S., Heckenlively J. R., Martin C. L., Lachman R. S., Sakati N. A., Rimoin D. L. Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Am J Ophthalmol. 1984 Feb;97(2):233–239. doi: 10.1016/s0002-9394(14)76095-7. [DOI] [PubMed] [Google Scholar]
  8. FRANCESCHETTI A., DIETERLE P. Importance diagnostique et pronostique de l'électrorétinogramme (ERG) dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie. Confin Neurol. 1954;14(2-3):184–186. [PubMed] [Google Scholar]
  9. Flynn J. T., Cullen R. F. Disc oedema in congenital amaurosis of Leber. Br J Ophthalmol. 1975 Sep;59(9):497–502. doi: 10.1136/bjo.59.9.497. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Francois J. Leber's congenital tapetoretinal degeneration. Int Ophthalmol Clin. 1968 Winter;8(4):929–947. [PubMed] [Google Scholar]
  11. Gruppuso P. A., O'Shea P. A., Orson J. M., Brem A. S. Juvenile nephronophthisis with blindness in a three-month-old infant. Senior's syndrome associated with relative parathyroid insufficiency. Clin Pediatr (Phila) 1983 Feb;22(2):114–118. doi: 10.1177/000992288302200205. [DOI] [PubMed] [Google Scholar]
  12. Krill A. E., Martin D. Photopic abnormalities in congenital stationary nightblindness. Invest Ophthalmol. 1971 Aug;10(8):625–636. [PubMed] [Google Scholar]
  13. Moore A. T., Taylor D. S. A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis. Br J Ophthalmol. 1984 Jun;68(6):421–431. doi: 10.1136/bjo.68.6.421. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Nickel B., Hoyt C. S. Leber's congenital amaurosis. Is mental retardation a frequent associated defect? Arch Ophthalmol. 1982 Jul;100(7):1089–1092. doi: 10.1001/archopht.1982.01030040067010. [DOI] [PubMed] [Google Scholar]
  15. Noble K. G., Carr R. E. Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case. Arch Ophthalmol. 1978 May;96(5):818–821. doi: 10.1001/archopht.1978.03910050424004. [DOI] [PubMed] [Google Scholar]
  16. Raitta C., Santavuori P. Ophthalmological findings in infantile type of so-called neuronal ceroid lipofuscinosis. Acta Ophthalmol (Copenh) 1973;51(6):755–763. doi: 10.1111/j.1755-3768.1973.tb06044.x. [DOI] [PubMed] [Google Scholar]
  17. 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]
  18. 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]
  19. Schroeder R., Mets M. B., Maumenee I. H. Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. Arch Ophthalmol. 1987 Mar;105(3):356–359. doi: 10.1001/archopht.1987.01060030076030. [DOI] [PubMed] [Google Scholar]
  20. Schutgens R. B., Heymans H. S., Wanders R. J., van den Bosch H., Tager J. M. Peroxisomal disorders: a newly recognised group of genetic diseases. Eur J Pediatr. 1986 Feb;144(5):430–440. doi: 10.1007/BF00441734. [DOI] [PubMed] [Google Scholar]
  21. Vaizey M. J., Sanders M. D., Wybar K. C., Wilson J. Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases. Arch Dis Child. 1977 May;52(5):399–402. doi: 10.1136/adc.52.5.399. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. WAARDENBURG P. J., SCHAPPERT-KIMMIJSER J. ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS. Acta Ophthalmol (Copenh) 1963;41:317–320. doi: 10.1111/j.1755-3768.1963.tb02444.x. [DOI] [PubMed] [Google Scholar]

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