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Bilateral macular colobomas in Leber's congenital amaurosis


Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli. The ophthalmic conditions were thought to be inherited as an autosomal recessive trait.

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visually evoked cortical potential


  1. Leber T. Über Retinitis Pigmentosa und angeborene Amaurose. Albrecht von Graefes Arch Klin Exp Ophthalmol 1869; 15: 1–15

    Google Scholar 

  2. Franceschetti A, Dieterle P. L'importance diagnostique de l'ERG dans les degnerscences tapeto-retiniennes avec retrecissment du champ visue et hemeralopie. Confin Neurol 1954; 14: 184–186

    Google Scholar 

  3. Alstrom CH, Olson O. Heredo-retinopathia congenitalis monohybrida recessiva autosomalis. Hereditas 1957; 43: 1–177

    Google Scholar 

  4. Waardenburg PJ. Does agenesis or dysgenesis neuroepithelialis retinae, whether or not related to keratoglobus, exist? Ophthalmologica 1957; 133: 454–61.

    Google Scholar 

  5. Sorsby A, Williams CE. Retinal aplasia as a clinical entity. Br Med J 1960; 1: 293–7

    Google Scholar 

  6. Schappert-Kimmijser J, Henkes HE, Van den Bosch J. Amaurosis congenita (Leber). Arch Ophthalmol 1957; 61: 211–8

    Google Scholar 

  7. Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 1961; 52: 625–33

    Google Scholar 

  8. Karel J. Keratoconus in congenital diffuse tapetoretinal degeneration. Ophthalmologica 1968; 155: 8–15

    Google Scholar 

  9. Dekaban AS. Mental retardation and neurologic involvement in patients with congenital retinal blindness. Dev Med Child Neurol 1972; 14: 436–44

    Google Scholar 

  10. Mann IC. On certain abnormal conditions of the macular region usually classed as colobamota. Br J Ophthalmol 1927; 11: 99–116

    Google Scholar 

  11. Phillips CI, Griffiths DL. Macular coloboma and skeletal abnormality. Br J Ophthalmol 1969: 53: 346–9

    Google Scholar 

  12. Margolis S, Scher BM, Carr RE. Macula colobomas in Leber's congenital amaurosis. Am J Ophthalmol 1977; 83: 27–31

    Google Scholar 

  13. Foxman SG, Heckenlively JR, Bateman JB, Wirtschafter JD. Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol 1985; 103: 1502–6

    Google Scholar 

  14. Moore AT, Taylor DS, Harden A. Bilateral macular dysplasia (colobomata) and congenital retinal dystrophy. Br J Ophthalmol 1985; 69: 691–9

    Google Scholar 

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Murayama, K., Adachi-Usami, E. Bilateral macular colobomas in Leber's congenital amaurosis. Doc Ophthalmol 72, 181–188 (1989).

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