The dystrophic retina in multisystem disorders: The electroretinogram in neuronal ceroid lipofuscinoses

Eye (Basingstoke)

Volumn 12, Issue 3, 1998, Pages 580-590

  Weleber, Richard G ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Electroretinogram; Lipofuscinosis; Neuronal ceroid; Retina

Indexed keywords

A WAVE; ANAMNESIS; ARTICLE; B WAVE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTRORETINOGRAM; FEMALE; HUMAN; MALE; NEURONAL CEROID LIPOFUSCINOSIS; NIGHT VISION; ONSET AGE; PHOTOPIC VISION; PHOTORECEPTOR; RETINA BIPOLAR GANGLION CELL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; RETROSPECTIVE STUDY; SIBLING; SIGNAL TRANSDUCTION;

EID: 0031869908     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.1998.148     Document Type: Article

References (40)

1. Goebel HH. The neuronal ceroid-lipofuscinoses. Semin Pediatr Neurol 1996;3:270-8.
2. Santavuori P, Haltia M, Rapola J, Raitta C. Infantile type of so-called neuronal ceroid-lipofuscinosis. J Neurol Sci 1973;18:257-67.
3. Santavuori P, Vanhanen S-L, Sainio K, Nieminen M, Wallden T, Launes J, et al. Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria. J Inherit Metab Dis 1993;16:227-9.
4. Jansky J. Sur un cas jusqu’il present non decrit d’idiotie amaurotique familiale complique par une hypoplasie du cervelet. Sb Ved Pr Lek Fak Karlovy 1908;9:165-96.
5. Bielschowsky M. Uber spat-infantile familiare amaurotische Idiote mit Kleinhirnsymptomen. Dtsch Z Nervenheilkd 1913;50:7-29.
6. Pampiglione G, Harden A. So-called neuronal ceroid lipofuscinosis: neurophysiological studies in 60 children. J Neurol Neurosurg Psychiatry 1977;40:323-30.
7. Goebel HH, Gerhard L, Kominami E, Haltia M. Neuronal ceroid-lipofuscinosis - late-infantile or Jansky-Bielschowsky type - revisited. Brain Pathol 1996;6:225-8.
8. Zeman W, Donahue S, Dyken P, Green J. The neuronal ceroid-lipofuscinosis (Batten-Vogt syndrome). In: Vinken PJ, Bruyn GW, editors. Handbook of clinical neurology. Amsterdam: North-Holland, 1970:588-679.
9. Weleber RG. Retinitis pigmentosa and allied disorders. In: Ryan SJ, editor. Retina, vol 1. 2nd ed. St Louis, CV Mosby-Year Book, 1994:335-466.
10. Kufs H. Uber einen Fall von spatester Form der amaurotischen Idiotie mit dem Beginn im 42 und Tod im 59 Lebens-jahre in klinischer, histologischer und Vererbungs- pathologischer Beziehung. Z Ges Neurol 1931;137:432-48.
11. Dom R, Brucher JM, Ceuterick C. Carton H, Martin JJ. Adult ceroid-lipofuscinosis (Kufs’ disease) in two brothers: retinal and visceral storage in one; diagnostic muscle biopsy in the other. Acta Neuropathol 1979;45:67-72.
12. Boehme DH, Cottrell JC, Leonberg SC, Zeman W. A dominant form of neuronal ceroid-lipofuscinosis. Brain 1971;94:745-56.
13. Dyken P, Wisniewski K. Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms. Am J Med Genet 1995;57:150-4.
14. Dawson WW, Armstrong D, Greer M, Maida TM, Samuelson DA. Disease-specific electrophysiological findings in adult ceroid-lipofuscinosis (Kufs disease). Doc Ophthalmol 1985;60:163-71.
15. Copenhaver RM, Goodman G. The electroretinogram in infantile, late infantile, and juvenile amaurotic idiocy. Arch Ophthalmol 1960;63:203-10.
16. Pinckers A, Bolmers D. Neuronal ceroid lipofuscinosis (ERG et EOG). Ann Oculist (Paris) 1974;207:523-9.
17. Goebel HH, Zeman W, Damaske E. An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid-lipofuscinosis. Am J Ophthalmol 1977;83:70-9.
18. Wachtmeister L. Clinical and electrophysiological findings in an early case of juvenile neuronal ceroid lipofuscinosis treated with selenium. Doc Ophthalmol Proc Ser 1982;31:209-15.
19. Herrick MK, Forno LS, Egbert PR, Urich H. Leber’s congenital amaurosis as a manifestation of infantile ceroid lipofuscinosis (Haltia-Santavuori type). Neuroophthalmology 1984;4:151-63.
20. Goebel HH, Klein H, Santavuori P, Sainio K. Ultrastructural studies of the retina in infantile neuronal ceroid- lipofuscinosis. Retina 1988;8:59-67.
21. Gottlob I, Goebel HH, Kohlschütter A, Leipert KP, Eckl G. Ophthalmologische, elektrophysiologische und histologische Befunde bei neuronaler Ceroidlipofuscinose (NCL). Spektrum Augenheilkd 1988;2:64-70.
22. Gottlob I, Leipert KP, Kohlschütter A, Goebel HH. Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes. Graefes Arch Clin Exp Ophthalmol 1988;226:516-21.
23. Gottlob I. Neuronal ceroid lipofuscinosis. In: Heckenlively JR, Arden GB, editors. Principles and practice of clinical electrophysiology of vision. St Louis: Mosby-Year Book, 1991:786-92.
24. Marmor MF, Arden GB, Nilsson SEG, Zrenner E, for the Standardisation Committee of the International Society for Clinical Electrophysiology of Vision (ISCEV). Standard for clinical electroretinography. Arch Ophthalmol 1989;107:816-9.
25. Marmor MF, Zrenner E, for the Standardisation Committee of the International Society for Clinical Electrophysiology of Vision (ISCEV). Standard for clinical electroretinography (1994 update). Doc Ophthalmol 1995;89:199-210.
26. Libert J. Diagnosis of lysosomal storage diseases by the ultrastructural study of conjunctival biopsies. Pathol Annu 1980;15:37-66.
27. Arsenio-Nunes ML, Goutieres F, Aicardi J. An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorders of childhood. Ann Neurol 1981;9:163-73.
28. Carpenter S. Morphological diagnosis and misdiagnosis in Batten-Kufs disease. Am J Med Genet [Suppl] 1988;5:85-91.
29. Weleber RG. The effect of age on human cone and rod Ganzfeld electroretinograms. Invest Ophthalmol Vis Sci 1981;20:392-9.
30. Weleber RG, Tongue AT. Congenital stationary night blindness presenting as Leber’s congenital amaurosis. Arch Ophthalmol 1987;105:360-5.
31. Weleber RG, Eisner A. Retinal function and physiological studies. In: Newsome DA, editor. Retinal dystrophies and degenerations. New York: Raven Press, 1988:21-69.
32. Severns ML, Johnson MA, Merritt SA. Automated estimation of implicit time and amplitude from the flicker electroretinogram. Appl Optics 1991;30:2106-12.
33. MacLeod PM, Dolman CL, Nickel RE, Chang E, Zonana Z, Silvey K. Prenatal diagnOsis of neuronal ceroid- lipofuscinosis. N Engl J Med 1984;310:594-6.
34. MacLeod PM, Dolman CL, Nickel RE, Chang E, Zonana Z, et al. Prenatal diagnosis of neuronal ceroid-lipofuscinosis. Am J Med Genet 1985;22:781-9.
35. Jarvela I, Mitchison HM, Munroe PB, O’Rawe AM, Mole SE, Syvanen A-C. Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet 1996;33:1041-2.
36. Rider JA, Rider DL. Batten disease: past, present and future. Am J Med Genet [Suppl] 1988;5:21-6.
37. Jongen PJH, Gabreels FJM, Schuurmans Stekhoven JH, Renier WO, le Coultre R, Begeer JH. Early infantile form of neuronal ceroid lipofuscinosis. Clin Neurol Neurosurg 1987;89:161-7.
38. Claussen M, Heim P, Knispel J, Goebel HH, Kohlschi.itter A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet 1992;42:536-8.
39. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-8.
40. Schriner JE, Yi W, Hofmann SL. cDNA and genomic cloning of the human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis. Genomics 1996;34:317-22.