Skip to main content
NCBI home page
The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
. 1984 Jun;68(6):421–431. doi: 10.1136/bjo.68.6.421

A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

A T Moore, D S Taylor
PMCID: PMC1040367  PMID: 6722075

Abstract

Three children who presented in infancy with a severe visual defect and absent or barely recordable electroretinograms, with relatively well preserved visually evoked cortical potentials, were subsequently found to have vertical and horizontal saccade palsies with head thrusts but relatively good visual acuity. These children, who were clearly different from other infants with congenital retinal dystrophy, were also developmentally delayed and had systemic motor and speech defects, but their visual prognosis was relatively good. The recognition of their saccade palsy was delayed because their poor visual attention in infancy was ascribed purely to the tapetoretinal degeneration. We consider these patients represent a clear subset of those patients who are diagnosed as having congenital retinal dystrophy or Leber's amaurosis.

Full text

PDF
421

Images in this article

422Image
on p.422
422Image
on p.422
424Image
on p.424
425Image
on p.425
425Image
on p.425
426Image
on p.426
426Image
on p.426
426Image
on p.426
427Image
on p.427
428Image
on p.428
428Image
on p.428
429Image
on p.429

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. CAMPBELL W. L., ZELLER R. Congenital ocular motor apraxia in females. Arch Ophthalmol. 1961 Nov;66:643–645. doi: 10.1001/archopht.1961.00960010645007. [DOI] [PubMed] [Google Scholar]
  4. COGAN D. G. A type of congenital ocular motor apraxia presenting jerky head movements. Trans Am Acad Ophthalmol Otolaryngol. 1952 Nov-Dec;56(6):853–862. [PubMed] [Google Scholar]
  5. Carpenter S., Schumacher G. A. Familial infantile cerebellar atrophy associated with retinal degeneration. Arch Neurol. 1966 Jan;14(1):82–94. doi: 10.1001/archneur.1966.00470070086010. [DOI] [PubMed] [Google Scholar]
  6. Cogan D. G. Congenital ocular motor apraxia. Can J Ophthalmol. 1966 Oct;1(4):253–260. [PubMed] [Google Scholar]
  7. 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]
  8. 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]
  9. Drachman D. A. Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol. 1968 Jun;18(6):654–674. doi: 10.1001/archneur.1968.00470360076008. [DOI] [PubMed] [Google Scholar]
  10. 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]
  11. 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]
  12. Hussels I. E. Congenital amaurosis and nephrophthisis: a new syndrome. Birth Defects Orig Artic Ser. 1971 Mar;7(3):199–199. [PubMed] [Google Scholar]
  13. JAMPEL R. S., OKAZAKI H., BERNSTEIN H. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthalmol. 1961 Aug;66:247–259. doi: 10.1001/archopht.1961.00960010249017. [DOI] [PubMed] [Google Scholar]
  14. Kirkham T. H., Kamin D. F. Slow saccadic eye movements in Wilson's disease. J Neurol Neurosurg Psychiatry. 1974 Feb;37(2):191–194. doi: 10.1136/jnnp.37.2.191. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Koeppen A. H., Hans M. B. Supranuclear ophthalmoplegia in olivopontocerebellar degeneration. Neurology. 1976 Aug;26(8):764–768. doi: 10.1212/wnl.26.8.764. [DOI] [PubMed] [Google Scholar]
  16. 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]
  17. Leighton D. A., Harris R. Retinal aplasia in association with macular coloboma, keratoconus and cataract. Clin Genet. 1973;4(3):270–274. doi: 10.1111/j.1399-0004.1973.tb01154.x. [DOI] [PubMed] [Google Scholar]
  18. 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]
  19. Margolis S., Scher B. M., Carr R. E. Macular colobomas in Leber's congenital amaurosis. Am J Ophthalmol. 1977 Jan;83(1):27–31. doi: 10.1016/0002-9394(77)90187-8. [DOI] [PubMed] [Google Scholar]
  20. 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]
  21. 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]
  22. Orrison W. W., Robertson W. C., Jr Congenital ocular motor apraxia. A possible disconnection syndrome. Arch Neurol. 1979 Jan;36(1):29–31. doi: 10.1001/archneur.1979.00500370059013. [DOI] [PubMed] [Google Scholar]
  23. Rendle-Short J., Appleton B., Pearn J. Congenital ocular motor apraxia: paediatric aspects. Aust Paediatr J. 1973 Oct;9(5):263–268. doi: 10.1111/j.1440-1754.1973.tb02232.x. [DOI] [PubMed] [Google Scholar]
  24. 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]
  25. 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]
  26. SMITH J. L., COGAN D. G. Ataxia-telangiectasia. Arch Ophthalmol. 1959 Sep;62:364–369. doi: 10.1001/archopht.1959.04220030020004. [DOI] [PubMed] [Google Scholar]
  27. Starr A. A disorder of rapid eye movements in Huntington's chorea. Brain. 1967 Sep;90(3):545–564. doi: 10.1093/brain/90.3.545. [DOI] [PubMed] [Google Scholar]
  28. 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]
  29. Wadia N. H., Swami R. K. A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families). Brain. 1971;94(2):359–374. doi: 10.1093/brain/94.2.359. [DOI] [PubMed] [Google Scholar]
  30. Zee D. S., Yee R. D., Singer H. S. Congenital ocular motor apraxia. Brain. 1977 Sep;100(3):581–599. doi: 10.1093/brain/100.3.581. [DOI] [PubMed] [Google Scholar]
  31. de Jong P. T., de Jong J. G., de Jong-Ten Doeschate J. M., Delleman J. W. Olivopontocerebellar atrophy with visual disturbances. An ophthalmologic investigation into four generations. Ophthalmology. 1980 Aug;87(8):793–804. doi: 10.1016/s0161-6420(80)35160-9. [DOI] [PubMed] [Google Scholar]

Articles from The British Journal of Ophthalmology are provided here courtesy of BMJ Publishing Group

RESOURCES