Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities

A case report

  • 23 Accesses

  • 3 Citations

This is a preview of subscription content, log in to check access.

References

  1. 1.

    Abraham FA, Yanko L, Light A, Viskoper RJ (1974) Electrophysiologic study of the visual system in familial juvenile nephronophthisis and tapetoretinal dystrophy. Am J Ophthalmol 78:591–596

  2. 2.

    Alström CH, Olson O (1957) Heredoretinopathia congenitalis monohybrida recessiva autosomalis. Hereditas 43:1–177

  3. 3.

    Brand I (1950) Eine seltene Netzhautveränderung beim Laurence-Biedlschen Syndrom. Klin Monatsbl Augenheilkd 116:337–339

  4. 4.

    Chew E, Deutman A, Pinckers A, Aan De Kerk A (1984) Yellowish flecks in Leber's congenital amaurosis. Br J Ophthalmol 68:727–731

  5. 5.

    Dekaban A, Carr RE (1966) Congenital amaurosis of retinal origin. Frequent association with neurological disorders. Arch Neurol 14:294–301

  6. 6.

    Dekaban AS (1969) Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. Am J Ophthalmol 68:1029–1037

  7. 7.

    Edwards WC, Price WD, MacDonald R (1971) Congenital amaurosis of retinal origin (Leber). Am J Ophthalmol 72:724–728

  8. 8.

    Ellis DS, Heckenlively JR, Martin CL et al (1984) Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Am J Ophthalmol 97:233–239

  9. 9.

    Fanconi G, Hankart E, Albertini A, Euhlinger R von, Dolivo G, Prader A (1951) Die familäre juvenile nephronophtise (die idiopathische parenchymatose schrumphniere). Helv Paediatr Acta 6:1–9

  10. 10.

    Fillastre JP, Guenel J, Riberi P, Marx P, Whitworth J, Kuhn J (1976) Senior-Løken syndrome (nephronophthisis and tape-toretinal degeneration). A study of 8 cases from 5 families. Clin Nephrol 5:14–19

  11. 11.

    Flynn JT, Cullen RF (1975) Disc oedema in congenital amaurosis of Leber. Br J Ophthalmol 59:497–502

  12. 12.

    Franceschetti A, Dieterle P (1954) L'importance diagnostique de l'ERG dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie. Confin Neurol 14:184–186

  13. 13.

    Franceschetti A, Forni S (1958) Dégénérescence tapéto-rétinienne infantile (type Leber) avec aspect marbré du fond d'œil périphérique. Ophthalmologica 135:610–616

  14. 14.

    Franceschetti A, François J, Babel J (1974) Chorioretinal heredo-degenerations. Thomas, Springfield, Ill

  15. 15.

    François J (1968) Leber's congenital tapetoretinal degeneration. Int Ophthalmol Clin 8:931–947

  16. 16.

    Godel V, Iaina A, Nemet P, Lazar M (1980) Hereditary renal-retinal dysplasia. Doc Ophthalmol 49:347–359

  17. 17.

    Hirose T, Ward O (1975) Amaurosis congenita (Leber). Ann Ophthalmol 7:59–63

  18. 18.

    Karel I (1968) Keratoconus in congenital diffuse tapetoretinal degeneration. Ophthalmologica 155:8–15

  19. 19.

    Krill AE (1968) Congenital anomalies of the eye. Mosby, St Louis

  20. 20.

    Leber T (1869) Über Retinitis Pigmentosa und angeborene Amaurose. Graefe's Arch Clin Exp Ophthalmol 15:1–25

  21. 21.

    Løken AC, Hanssen O, Halvorsen S, Jølster NJ (1961) Hereditary renal dysplasia and blindness. Acta Paediatr Scand 50:177–184

  22. 22.

    Mainzer F, Saldino RM, Ozonoff MB, Minagi H (1970) Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49:556–562

  23. 23.

    Margolis S, Scher BM, Carr RE (1977) Macular coloboma's in Leber's congenital amaurosis. Am J Ophthalmol 83:27–31

  24. 24.

    Mizuno K, Takei Y, Sears ML, Peterson WS, Carr RE, Jampol LM (1977) Leber's congenital amaurosis. Am J Ophthalmol 83:32–42

  25. 25.

    Mongeau JG, Worthen HG (1967) Nephronophthisis and medullary cysts disease. Am J Med 43:345–355

  26. 26.

    Noble KG, Carr RE (1978) Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of 1 case. Arch Ophthalmol 96:18–821

  27. 27.

    Proesmans W, Van Damme B, Macken J (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. Clin Nephrol 3:160–164

  28. 28.

    Saldino RM, Mainzer F (1971) Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa. Radiology 98:39–45

  29. 29.

    Schappert-Kimmijser J, Henkes HE, Bosch J van den (1959) Amaurosis congenita (Leber). Arch Ophthalmol 61:211–218

  30. 30.

    Schroeder R, Mets MB, Maumenee IH (1987) Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases. Arch Ophthalmol 105:356–359

  31. 31.

    Senior B (1973) Familial renal-retinal dystrophy. Am J Dis Child 125:442–447

  32. 32.

    Senior B, Friedmann AI, Braudo JL (1961) Juvenile familial nephropathy with tapetoretinal degeneration. Am J Ophthalmol 52:625–633

  33. 33.

    Smith CH, Graham JB (1945) Congenital medullary cysts of the kidney with severe refractory anemia. Am J Dis Child 69:369–377

  34. 34.

    Stanescu B, Michiels J, Proesmans W, Van Damme B (1976) Retinal involvement in a case of nephronophthisis associated with liver fibrosis (Senior-Boichis syndrome). Birth Defects 3:463–469

  35. 35.

    Ticho B, Sieving PA (1989) Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis. Am J Ophtha1mol 107:426–428

  36. 36.

    Van Balen A, Collenburg J (1976) Tapetoretinal degeneration and familial juvenile nephronophthisis (FJN). J Pediatr Ophthalmol 13:32–36

  37. 37.

    Winkelman JE, Horstein GPM (1959) Congenital blindness in the presence of a normal fundus. Ophthalmologica 137:423–425

Download references

Author information

Correspondence to Brigitte Lauweryns.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Lauweryns, B., Leys, A., Van Haesendonck, E. et al. Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. Graefe's Arch Clin Exp Ophthalmol 231, 242–246 (1993). https://doi.org/10.1007/BF00918849

Download citation

Keywords

  • Public Health
  • Skeletal Abnormality