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. 1983 Aug;67(8):493–503. doi: 10.1136/bjo.67.8.493

Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?

J A Govan
PMCID: PMC1040106  PMID: 6871140

Abstract

The ocular manifestations in 16 patients with Alport's syndrome were lenticonus and retinal flecks in the macula and mid periphery. These 3 features appear to be specific for this syndrome and are a considerable aid to diagnosis. Lens opacities are common, and other ocular abnormalities occur sporadically. The present evidence indicates that this is a hereditary, widespread disorder of basement membrane, and it is suggested that ophthalmologists may contribute to the further understanding of it by directing attention towards analysis of the lens capsule after cataract extraction. The similarity of the retinopathy to that of fundus albipunctatus is noted, and it is suggested that the latter condition should not be diagnosed in the absence of renal investigation and audiometry.

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Selected References

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

  1. ASPERTI G. LENTICONO ANTERIORE BILATERALE CON LENTICONO POSTERIORE MONOLATERALE IN NEFRITICO CRONICO IPERAZOTEMICO. (DESCRIZIONE DI UN CASO CLINICO) Ann Ottalmol Clin Ocul. 1964 Mar;90:107–111. [PubMed] [Google Scholar]
  2. Arnott E. J., Crawfurd M. D., Toghill P. J. Anterior lenticonus and Alport's syndrome. Br J Ophthalmol. 1966 Jul;50(7):390–403. doi: 10.1136/bjo.50.7.390. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. BROWNELL R. D., WOLTER J. R. ANTERIOR LENTICONUS IN FAMILIAL HEMORRHAGIC NEPHRITIS. DEMONSTRATION OF LENS PATHOLOGY. Arch Ophthalmol. 1964 Apr;71:481–483. doi: 10.1001/archopht.1964.00970010497007. [DOI] [PubMed] [Google Scholar]
  4. BUCHANAN W. S., ELLIS P. P. RETINAL SEPARATION IN CHRONIC GLOMERULONEPHRITIS. REPORT OF A PATIENT CURED BY BILATERAL NEPHRECTOMIES AND SUBSEQUENT SUCCESSFUL KIDNEY TRANSPLANT. Arch Ophthalmol. 1964 Feb;71:182–186. doi: 10.1001/archopht.1964.00970010198008. [DOI] [PubMed] [Google Scholar]
  5. Bellhorn M. B., Friedman A. H., Wise G. N., Henkind P. Ultrastructure and clinicopathologic correlation of idiopathic preretinal macular fibrosis. Am J Ophthalmol. 1975 Mar;79(3):366–373. doi: 10.1016/0002-9394(75)90608-x. [DOI] [PubMed] [Google Scholar]
  6. Bunge H. Fundus albipunctatus beim Alport-Syndrom. Klin Monbl Augenheilkd. 1965 Dec;147(5):751–753. [PubMed] [Google Scholar]
  7. CASE RECORDS of the Massachusetts General Hospital; case 43511. N Engl J Med. 1957 Dec 19;257(25):1231–1237. doi: 10.1056/NEJM195712192572508. [DOI] [PubMed] [Google Scholar]
  8. Chavis R. M., Groshong T. Corneal arcus in Alport's syndrome. Am J Ophthalmol. 1973 May;75(5):793–794. doi: 10.1016/0002-9394(73)90884-2. [DOI] [PubMed] [Google Scholar]
  9. Davies P. D. Pigment dispersion in a case of Alport's syndrome. Br J Ophthalmol. 1970 Aug;54(8):557–561. doi: 10.1136/bjo.54.8.557. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Epstein C. J., Sahud M. A., Piel C. F., Goodman J. R., Bernfield M. R., Kushner J. H., Ablin A. R. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med. 1972 Mar;52(3):299–310. doi: 10.1016/0002-9343(72)90017-4. [DOI] [PubMed] [Google Scholar]
  11. FORSIUS H. Arcus senilis corneae; its clinical development and relationship to serum lipids, proteins and lipoproteins. Acta Ophthalmol Suppl. 1954;42:1–78. [PubMed] [Google Scholar]
  12. Faggioni R., Scouras J., Streiff E. B. Alport's syndrome. Clinicopathological considerations. Ophthalmologica. 1972;165(1):1–14. doi: 10.1159/000308468. [DOI] [PubMed] [Google Scholar]
  13. Foos R. Y. Regional ischemic infarcts of the retina. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1976;200(3):183–194. doi: 10.1007/BF01028533. [DOI] [PubMed] [Google Scholar]
  14. Foos R. Y. Vitreoretinal juncture over retinal vessels. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1977 Dec 31;204(4):223–234. doi: 10.1007/BF00415316. [DOI] [PubMed] [Google Scholar]
  15. Foos R. Y. Vitreoretinal juncture; topographical variations. Invest Ophthalmol. 1972 Oct;11(10):801–808. [PubMed] [Google Scholar]
  16. Friedburg D. Pseudoneuritis und Drusenpapille beim Alport-Syndrom. Klin Monbl Augenheilkd. 1968 Mar;152(3):379–383. [PubMed] [Google Scholar]
  17. GOLDBLOOM R. B., FRASER F. C., WAUGH D., ARONOVITCH M., WIGLESWORTH F. W. Hereditary renal disease associated with nerve deafness and ocular lesions. Pediatrics. 1957 Aug;20(2):241–252. [PubMed] [Google Scholar]
  18. GREGG J. B., BECKER S. F. Concomitant progressive deafness, chronic nephritis, and ocular lens disease. Arch Ophthalmol. 1963 Mar;69:293–299. doi: 10.1001/archopht.1963.00960040299005. [DOI] [PubMed] [Google Scholar]
  19. Gubler M., Levy M., Broyer M., Naizot C., Gonzales G., Perrin D., Habib R. Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med. 1981 Mar;70(3):493–505. doi: 10.1016/0002-9343(81)90571-4. [DOI] [PubMed] [Google Scholar]
  20. HENKES H. E., VAN DER KAM J. P., SANDIFORT WESTHOFF A. J. Electroretinographic studies in arterial hypertension; effect of reduction in blood pressure on electrical response of human retina. AMA Arch Ophthalmol. 1954 Aug;52(2):221–233. [PubMed] [Google Scholar]
  21. Hauser J. Néphropathie chronique héréditaire avec surdité et atteinte oculaire. Schweiz Med Wochenschr. 1974 May 18;104(20):724–728. [PubMed] [Google Scholar]
  22. Heathcote J. G., Grant M. E. The molecular organization of basement membranes. Int Rev Connect Tissue Res. 1981;9:191–264. doi: 10.1016/b978-0-12-363709-3.50011-5. [DOI] [PubMed] [Google Scholar]
  23. Hinglais N., Grünfeld J. P., Bois E. Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest. 1972 Nov;27(5):473–487. [PubMed] [Google Scholar]
  24. Hochgesand P., Steinbach P. O., Straub E. Augenvernderungen bei Alport-Syndrom. Klin Monbl Augenheilkd. 1974 Sep;165(3):447–452. [PubMed] [Google Scholar]
  25. Huck D., Meythaler H., Rix R. Alport-Syndrom mit Hornhautbeteiligung und Veränderungen des ERG. Klin Monbl Augenheilkd. 1976 Apr;168(4):553–556. [PubMed] [Google Scholar]
  26. Kaufman D. B., McIntosh R. M., Smith F. G., Jr, Vernier R. L. Diffuse familial nephropathy: a clinicopathological study. J Pediatr. 1970 Jul;77(1):37–47. doi: 10.1016/s0022-3476(70)80042-7. [DOI] [PubMed] [Google Scholar]
  27. Krill A. E., Klien B. A. Flecked retina syndrome. Arch Ophthalmol. 1965 Oct;74(4):496–508. doi: 10.1001/archopht.1965.00970040498011. [DOI] [PubMed] [Google Scholar]
  28. Marmor M. F. Fundus albipunctatus: a clinical study of the fundus lesions, the physiologic deficit, and the vitamin A metabolism. Doc Ophthalmol. 1977 Jun 30;43(2):277–302. doi: 10.1007/BF01569200. [DOI] [PubMed] [Google Scholar]
  29. McCrory W. W., Shibuya M., Worthen H. G. Hereditary renal glomerular disease in infancy and childhood. Adv Pediatr. 1966;14:253–280. [PubMed] [Google Scholar]
  30. Mihara M. [The studies on the eyes of the subjects of renal disease with the treatment by the hemo- and the peritoneal dialysis. II. The correlation between the EOG and the ERG (author's transl)]. Nippon Ganka Gakkai Zasshi. 1973 Sep;77(9):1116–1123. [PubMed] [Google Scholar]
  31. Nielsen C. E. Lenticonus anterior and Alport's syndrome. Acta Ophthalmol (Copenh) 1978;56(4):518–530. doi: 10.1111/j.1755-3768.1978.tb01365.x. [DOI] [PubMed] [Google Scholar]
  32. O'Neill W. M., Jr, Atkin C. L., Bloomer H. A. Hereditary nephritis: a re-examination of its clinical and genetic features. Ann Intern Med. 1978 Feb;88(2):176–182. doi: 10.7326/0003-4819-88-2-176. [DOI] [PubMed] [Google Scholar]
  33. PERRIN D. LE SYNDROME D'ALPORT (N'EPHROPATHIES H'ER'EDITAIRES AVEC SURDIT'E ET ATTEINTE OCULAIRE) Ann Ocul (Paris) 1964 Apr;197:329–346. [PubMed] [Google Scholar]
  34. Perrin D., Jungers P., Grünfeld J. P., Delons S., Noël L. H., Zenatti C. Perimacular changes in Alport's syndrome. Clin Nephrol. 1980 Apr;13(4):163–167. [PubMed] [Google Scholar]
  35. Polak B. C., Hogewind B. L. Macular lesions in Alport's disease. Am J Ophthalmol. 1977 Oct;84(4):532–535. doi: 10.1016/0002-9394(77)90447-0. [DOI] [PubMed] [Google Scholar]
  36. Polak B. C. Ophthalmological complications of haemodialysis and kidney transplantation. Doc Ophthalmol. 1980 May 30;49(1):v-vii, 1-96. doi: 10.1007/BF00175176. [DOI] [PubMed] [Google Scholar]
  37. Purriel P., Drets M., Pascale E., Sánchez Cestau R., Borrás A., Ferreira W. A., de Lucca A., Fernández L. Familial hereditary nephropathy (Alport's syndrome). Am J Med. 1970 Dec;49(6):753–773. doi: 10.1016/s0002-9343(70)80057-2. [DOI] [PubMed] [Google Scholar]
  38. Rome L., Cuppage F. E., Vertes V. Familial hematuric nephritis. Pediatrics. 1966 Nov;38(5):808–818. [PubMed] [Google Scholar]
  39. Rosen S., Pirani C. L., Muehrcke R. C. Renal interstitial foam cells. A light and electron microscopic study. Am J Clin Pathol. 1966 Jan;45(1):32–41. doi: 10.1093/ajcp/45.1.32. [DOI] [PubMed] [Google Scholar]
  40. Roth A. M., Foos R. Y. Surface wrinkling retinopathy in eyes enucleated at autopsy. Trans Am Acad Ophthalmol Otolaryngol. 1971 Sep-Oct;75(5):1047–1058. [PubMed] [Google Scholar]
  41. SAND B. J., ABRAHAM S. V. Anterior lenticonus. An operated case and a review of the literature. Am J Ophthalmol. 1962 Apr;53:636–639. [PubMed] [Google Scholar]
  42. SOHAR E. Renal disease, inner ear deafness, and ocular changes; a new heredofamilial syndrome. AMA Arch Intern Med. 1956 May;97(5):627–630. doi: 10.1001/archinte.1956.00250230121013. [DOI] [PubMed] [Google Scholar]
  43. Sidd R. J., Fine S. L., Owens S. L., Patz A. Idiopathic preretinal gliosis. Am J Ophthalmol. 1982 Jul;94(1):44–48. doi: 10.1016/0002-9394(82)90189-1. [DOI] [PubMed] [Google Scholar]
  44. Singh D. S., Bisht D. B., Kapoor S., Sharma R. N., Sankaran K., Majumdar N. K. Lenticonus in Alport's syndrome. A family study. Acta Ophthalmol (Copenh) 1977 Feb;55(1):164–169. doi: 10.1111/j.1755-3768.1977.tb06104.x. [DOI] [PubMed] [Google Scholar]
  45. Smith F. R., Goodman D. S. The effects of diseases of the liver, thyroid, and kidneys on the transport of vitamin A in human plasma. J Clin Invest. 1971 Nov;50(11):2426–2436. doi: 10.1172/JCI106741. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Stevens P. R. Anterior lenticonus and the Waardenburg syndrome. Br J Ophthalmol. 1970 Sep;54(9):621–623. doi: 10.1136/bjo.54.9.621. [DOI] [PMC free article] [PubMed] [Google Scholar]
  47. Tina L. U., Lou M. F., Dizio D., Calcagno P. L. Alteration of collagen metabolism in hereditary nephritis. Pediatr Res. 1979 Jun;13(6):774–776. doi: 10.1203/00006450-197906000-00011. [DOI] [PubMed] [Google Scholar]
  48. Torczynski E., Tso M. O. The architecture of the choriocapillaris at the posterior pole. Am J Ophthalmol. 1976 Apr;81(4):428–440. doi: 10.1016/0002-9394(76)90298-1. [DOI] [PubMed] [Google Scholar]
  49. UNGER H. H., ROTHER K. NETZHAUTVERAENDERUNGEN BEIM ALPORTSYNDROM (ERBLICHE NEPHROPATHIE MIT INNENOHRSCHWERHOERIGKEIT) Ber Zusammenkunft Dtsch Ophthalmol Ges. 1964;65:293–298. [PubMed] [Google Scholar]
  50. VANCEA P., LAZARESCU D. Contributions à l'étude du lenticône; lenticône antérieur et postérieur bilatéral. Ophthalmologica. 1958 Feb;135(2):67–78. doi: 10.1159/000303277. [DOI] [PubMed] [Google Scholar]
  51. Varnek L., Schnohr P., Jensen G. Presenile corneal arcus in healthy persons. A possible cardiovascular risk indicator in younger adults. Acta Ophthalmol (Copenh) 1979 Oct;57(5):755–765. doi: 10.1111/j.1755-3768.1979.tb01841.x. [DOI] [PubMed] [Google Scholar]
  52. Yamada E. Some structural features of the fovea centralis in the human retina. Arch Ophthalmol. 1969 Aug;82(2):151–159. doi: 10.1001/archopht.1969.00990020153002. [DOI] [PubMed] [Google Scholar]
  53. Yatzidis H., Digenis P., Fountas P. Hypervitaminosis A accompanying advanced chronic renal failure. Br Med J. 1975 Aug 9;3(5979):352–353. doi: 10.1136/bmj.3.5979.352. [DOI] [PMC free article] [PubMed] [Google Scholar]
  54. Yoshikawa N., Cameron A. H., White R. H. The glomerular basal lamina in hereditary nephritis. J Pathol. 1981 Nov;135(3):199–209. doi: 10.1002/path.1711350305. [DOI] [PubMed] [Google Scholar]
  55. Zimmerman T. J., Dawson W. W., Fitzgerald C. R. I. Electroretinographic changes in normal eyes during administration of prednisone. Ann Ophthalmol. 1973 Jul;5(7):757–765. [PubMed] [Google Scholar]
  56. Zylbermann R., Silverstone B. Z., Brandes E., Drukker A. Retinal lesions in Alport's syndrome. J Pediatr Ophthalmol Strabismus. 1980 Jul-Aug;17(4):255–260. doi: 10.3928/0191-3913-19800701-15. [DOI] [PubMed] [Google Scholar]

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