PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of taosLink to Publisher's site
 
Trans Am Ophthalmol Soc. 1996; 94: 1095–1155.
PMCID: PMC1312119

Vision in albinism.

Abstract

PURPOSE: The purpose of this investigation was to study vision in albinism from 3 perspectives: first, to determine the characteristics of grating acuity development in children with albinism; second, to study the effect of illumination on grating acuity; and third, to define the effect of melanin pigment in the macula on visual acuity. METHODS: I. Binocular and monocular grating acuity was measured with the acuity card procedure in 40 children with albinism during the first 3 years of life. Recognition acuity was eventually measured in 27 of these patients. Ocular pigment was documented by a previously established method of grading iris transillumination and macular transparency. II. Grating acuity under standard and increased illumination levels was measured in 20 adults with albinism (group I) compared with that in 20 adults with nystagmus due to conditions other than albinism (group II) and 20 adults without ocular abnormalities (group III). Recognition acuity measured with the ETDRS charts was also recorded for each group. III. Best-corrected binocular acuity was measured in 29 patients with albinism who were identified with melanin pigment in their maculas by direct ophthalmoscopy. RESULTS: I. Both binocular and monocular grating acuity was reduced 2 to 3 octaves below the norm for ages 6 months to 3 years. Limited data available in the first 6 months of life did not show failure of vision to develop. Grating acuity measurements overestimated eventual recognition acuity. Mean recognition acuity was 20/111. A relationship between grating acuity development and presence or absence of ocular pigment was not found. II. Grating acuity was significantly better for groups I and II under the condition of increased illumination (P < .03). For patients with albinism, grating acuity under standard illumination was significantly better than recognition acuity (P < .001). For all groups, grating acuity under increased illumination was significantly better than recognition acuity (P < .01). III. Mean recognition acuity in patients with albinism and melanin pigment in their maculas (20/47) was significantly better than measured recognition acuity in Project I (P < .001). All had foveal hypoplasia, but 8 patients had an incompletely developed annular reflex in the macula, 6 patients showed stereoacuity, and 3 patients had no nystagmus. CONCLUSIONS: I. Grating acuity development in albinism seems to progress along a curve that is asymptotic to visual development in a normal population. II. Increasing illumination does not reduce grating acuity in patients with albinism. Grating acuity overestimates recognition acuity in these patients. III. Ophthalmoscopic detection of melanin pigment in the macula in patients with albinism is associated with better vision.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (6.6M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Fulton AB, Albert DM, Craft JL. Human albinism. Light and electron microscopy study. Arch Ophthalmol. 1978 Feb;96(2):305–310. [PubMed]
  • McCartney AC, Spalton DJ, Bull TB. Type IV melanosomes of the human albino iris. Br J Ophthalmol. 1985 Jul;69(7):537–541. [PMC free article] [PubMed]
  • King RA, Witkop CJ., Jr Hairbulb tyrosinase activity in oculocutaneous albinism. Nature. 1976 Sep 2;263(5572):69–71. [PubMed]
  • King RA, Witkop CJ. Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. Am J Hum Genet. 1977 Mar;29(2):164–168. [PubMed]
  • King RA, Olds DP, Witkop CJ. Characterization of human hairbulb tyrosinase: properties of normal and albino enzyme. J Invest Dermatol. 1978 Aug;71(2):136–139. [PubMed]
  • King RA, Olds DP. Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. Am J Med Genet. 1985 Jan;20(1):49–55. [PubMed]
  • Kromberg JG, Castle DJ, Zwane EM, Bothwell J, Kidson S, Bartel P, Phillips JI, Jenkins T. Red or rufous albinism in southern Africa. Ophthalmic Paediatr Genet. 1990 Sep;11(3):229–235. [PubMed]
  • Bergsma DR, Kaiser-Kupfer M. A new form of albinism. Am J Ophthalmol. 1974 Jun;77(6):837–844. [PubMed]
  • King RA, Summers CG. Albinism. Dermatol Clin. 1988 Apr;6(2):217–228. [PubMed]
  • Witkop CJ, Jr, Hill CW, Desnick S, Thies JK, Thorn HL, Jenkins M, White JG. Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. J Invest Dermatol. 1973 Jun;60(6):443–456. [PubMed]
  • Abadi R, Pascal E. The recognition and management of albinism. Ophthalmic Physiol Opt. 1989 Jan;9(1):3–15. [PubMed]
  • Spritz RA, Strunk KM, Giebel LB, King RA. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med. 1990 Jun 14;322(24):1724–1728. [PubMed]
  • Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA. Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. Am J Hum Genet. 1991 Jul;49(1):199–206. [PubMed]
  • Oetting WS, King RA. Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. Hum Genet. 1992 Nov;90(3):258–262. [PubMed]
  • Shibahara S. Mutations of the tyrosinase gene in oculocutaneous albinism. Pigment Cell Res. 1992 Nov;5(5 Pt 2):279–283. [PubMed]
  • Park KC, Chintamaneni CD, Halaban R, Witkop CJ, Jr, Kwon BS. Molecular analyses of a tyrosinase-negative albino family. Am J Hum Genet. 1993 Feb;52(2):406–413. [PubMed]
  • Hu F, Hanifin JM, Prescott GH, Tongue AC. Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. Am J Hum Genet. 1980 May;32(3):387–395. [PubMed]
  • Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet. 1991 Jun;48(6):1159–1167. [PubMed]
  • King RA, Wirtschafter JD, Olds DP, Brumbaugh J. Minimal pigment: a new type of oculocutaneous albinism. Clin Genet. 1986 Jan;29(1):42–50. [PubMed]
  • Summers CG, King RA. Ophthalmic features of minimal pigment oculocutaneous albinism. Ophthalmology. 1994 May;101(5):906–914. [PubMed]
  • Giebel LB, Tripathi RK, King RA, Spritz RA. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest. 1991 Mar;87(3):1119–1122. [PMC free article] [PubMed]
  • King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz RA. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest. 1991 Mar;87(3):1046–1053. [PMC free article] [PubMed]
  • Witkop CJ, Jr, Nance WE, Rawls RF, White JG. Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet. 1970 Jan;22(1):55–74. [PubMed]
  • King RA, Creel D, Cervenka J, Okoro AN, Witkop CJ. Albinism in Nigeria with delineation of new recessive oculocutaneous type. Clin Genet. 1980 Apr;17(4):259–270. [PubMed]
  • King RA, Rich SS. Segregation analysis of brown oculocutaneous albinism. Clin Genet. 1986 Jun;29(6):496–501. [PubMed]
  • King RA, Lewis RA, Townsend D, Zelickson A, Olds DP, Brumbaugh J. Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization. Ophthalmology. 1985 Nov;92(11):1496–1505. [PubMed]
  • Taylor WO. Albinos who bleed (Hermansky-Pudlak syndrome). The Gypsy's Warning? Trans Ophthalmol Soc U K. 1981;101(Pt 2):223–228. [PubMed]
  • Simon JW, Adams RJ, Calhoun JH, Shapiro SS, Ingerman CM. Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). Am J Ophthalmol. 1982 Jan;93(1):71–77. [PubMed]
  • Kinnear PE, Tuddenham EG. Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome. Br J Ophthalmol. 1985 Dec;69(12):904–908. [PMC free article] [PubMed]
  • Summers CG, Knobloch WH, Witkop CJ, Jr, King RA. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. 1988 Apr;95(4):545–554. [PubMed]
  • Izquierdo NJ, Townsend W, Hussels IE. Ocular findings in the Hermansky-Pudlak syndrome. Trans Am Ophthalmol Soc. 1995;93:191–202. [PMC free article] [PubMed]
  • Hales RH. Albinism with Axenfeld's syndrome. Rocky Mt Med J. 1968 Feb;65(2):51–52. [PubMed]
  • Benson W. Oculocutaneous albinism with Axenfeld's anomaly. Am J Ophthalmol. 1981 Jul;92(1):133–134. [PubMed]
  • Lubin JR. Oculocutaneous albinism associated with corneal mesodermal dysgenesis. Am J Ophthalmol. 1981 Mar;91(3):347–350. [PubMed]
  • Ricci B, Lacerra F. Oculocutaneous albinism and corneal mesodermal dysgenesis. Am J Ophthalmol. 1981 Oct;92(4):587–587. [PubMed]
  • van Dorp DB, Delleman JW, Loewer-Sieger DH. Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. Clin Genet. 1984 Nov;26(5):440–444. [PubMed]
  • Charles SJ, Green JS, Grant JW, Yates JR, Moore AT. Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol. 1993 Apr;77(4):222–227. [PMC free article] [PubMed]
  • Witkop CJ, Nuñez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R. 1990 Aug;82(8):333–339. [PubMed]
  • HERMANSKY F, PUDLAK P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959 Feb;14(2):162–169. [PubMed]
  • Hardisty RM, Mills DC, Ketsa-Ard K. The platelet defect associated with albumism. Br J Haematol. 1972 Dec;23(6):679–692. [PubMed]
  • White JG, Witkop CJ. Effects of normal and aspirin platelets on defective secondary aggregation in the Hermansky-Pudlak syndrome. A test for storage pool deficient platelets. Am J Pathol. 1972 Jul;68(1):57–66. [PubMed]
  • Davies BH, Tuddenham EG. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. Q J Med. 1976 Apr;45(178):219–232. [PubMed]
  • Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. Am J Med. 1979 May;66(5):737–747. [PubMed]
  • Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med. 1980 Jan;92(1):20–23. [PubMed]
  • White DA, Smith GJ, Cooper JA, Jr, Glickstein M, Rankin JA. Hermansky-pudlak syndrome and interstitial lung disease: report of a case with lavage findings. Am Rev Respir Dis. 1984 Jul;130(1):138–141. [PubMed]
  • DePinho RA, Kaplan KL. The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. Medicine (Baltimore) 1985 May;64(3):192–202. [PubMed]
  • Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol. 1987 Dec;26(4):305–311. [PubMed]
  • Mahadeo R, Markowitz J, Fisher S, Daum F. Hermansky-Pudlak syndrome with granulomatous colitis in children. J Pediatr. 1991 Jun;118(6):904–906. [PubMed]
  • CHEDIAK MM. Nouvelle anomalie leucocytaire de caractère constitutionnel et familial. Rev Hematol. 1952;7(3):362–367. [PubMed]
  • HIGASHI O. Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase. Tohoku J Exp Med. 1954 Feb 25;59(3):315–332. [PubMed]
  • BenEzra D, Mengistu F, Cividalli G, Weizman Z, Merin S, Auerbach E. Chediak-Higashi syndrome: ocular findings. J Pediatr Ophthalmol Strabismus. 1980 Mar-Apr;17(2):68–74. [PubMed]
  • Windhorst DB, Zelickson AS, Good RA. Chediak-Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science. 1966 Jan 7;151(3706):81–83. [PubMed]
  • Lockman LA, Kennedy WR, White JG. The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr. 1967 Jun;70(6):942–951. [PubMed]
  • Fonda G, Thomas H, Gore GV., 3rd Educational and vocational placement, and low-vision corrections in albinism. A report bases on 253 patients. Sight Sav Rev. 1971;41(7):29–36. [PubMed]
  • Scialfa AC. Ocular albinism in a female. Am J Ophthalmol. 1972 Jun;73(6):943–948. [PubMed]
  • O'Donnell FE, Jr, King RA, Green WR, Witkop CJ., Jr Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Arch Ophthalmol. 1978 Sep;96(9):1621–1625. [PubMed]
  • Bergen AA, Samanns C, Schuurman EJ, van Osch L, van Dorp DB, Pinckers AJ, Bakker E, Gal A, van Ommen GJ, Bleeker-Wagemakers EM. Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet. 1991 Dec;88(2):162–166. [PubMed]
  • Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA. Linkage analysis in X-linked ocular albinism. Genomics. 1991 Apr;9(4):605–613. [PubMed]
  • Charles SJ, Green JS, Moore AT, Barton DE, Yates JR. Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. Genomics. 1993 Apr;16(1):259–261. [PubMed]
  • Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? Am J Med Genet. 1992 Mar 1;42(5):700–705. [PubMed]
  • van Dorp DB, Eriksson AW, Delleman JW, van Vliet AG, Collewijn H, van Balen AT, Forsius HR. Aland eye disease: no albino misrouting. Clin Genet. 1985 Dec;28(6):526–531. [PubMed]
  • O'Donnell FE, Jr, Hambrick GW, Jr, Green WR, Iliff WJ, Stone DL. X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. Arch Ophthalmol. 1976 Nov;94(11):1883–1892. [PubMed]
  • Garner A, Jay BS. Macromelanosomes in X-linked ocular albinism. Histopathology. 1980 May;4(3):243–254. [PubMed]
  • O'Donnell FE, Jr, Green WR, Fleischman JA, Hambrick GW. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. Arch Ophthalmol. 1978 Jul;96(7):1189–1192. [PubMed]
  • Szymanski KA, Boughman JA, Nance WE, Olansky DC, Weinberg RS. Genetic studies of ocular albinism in a large Virginia kindred. Ann Ophthalmol. 1984 Feb;16(2):183–passim. [PubMed]
  • Charles SJ, Moore AT, Grant JW, Yates JR. Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye (Lond) 1992;6(Pt 1):75–79. [PubMed]
  • Zelickson AS, Windhorst DB, White JG, Good RA. The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol. 1967 Dec;49(6):575–581. [PubMed]
  • White JG, Clawson CC. The Chédiak-Higashi syndrome; the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. I. Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifestations of cytoplasmic injury and sequestration. III. Interactions between giant organelles and foreign particulates. Am J Pathol. 1980 Jan;98(1):151–196. [PubMed]
  • Cortin P, Tremblay M, Lemagne JM. X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. Can J Ophthalmol. 1981 Jul;16(3):121–123. [PubMed]
  • OHRT V. Ocular albinism with changes typical of carriers. Br J Ophthalmol. 1956 Dec;40(12):721–729. [PMC free article] [PubMed]
  • VAN DEN BOSCH J, WAARDENBURG PJ. X-chromosomal ocular albinism in a Dutch family. Ann Hum Genet. 1956 Nov;21(2):101–122. [PubMed]
  • Johnson GJ, Gillan JG, Pearce WG. Ocular albinism in Newfoundland. Can J Ophthalmol. 1971 Oct;6(4):237–248. [PubMed]
  • Pearce WG, Johnson GJ, Gillan JG. Nystagmus in a female carrier of ocular albinism. J Med Genet. 1972 Mar;9(1):126–129. [PMC free article] [PubMed]
  • Walker BA, Martyn LJ, Coffman T. X-linked ocular albinism. Birth Defects Orig Artic Ser. 1971 Mar;7(3):200–202. [PubMed]
  • FALLS HF. Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am J Ophthalmol. 1951 May;34(52):41–50. [PubMed]
  • GILLESPIE FD. Ocular albinism with report of a family with female carriers. Arch Ophthalmol. 1961 Dec;66:774–777. [PubMed]
  • GILLESPIE FD, COVELLI B. CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES. Arch Ophthalmol. 1963 Aug;70:209–213. [PubMed]
  • GOODMAN G, RIPPS H, SIEGEL IM. SEX-LINKED OCULAR DISORDERS: TRAIT EXPRESSIVITY IN MALES AND CARRIER FEMALES. Arch Ophthalmol. 1965 Mar;73:387–398. [PubMed]
  • Jacobson SG, Mohindra I, Held R, Dryja TP, Albert DM. Visual acuity development in tyrosinase negative oculocutaneous albinism. Doc Ophthalmol. 1984 Feb 29;56(4):337–344. [PubMed]
  • Fielder AR, Dobson V, Moseley MJ, Mayer DL. Preferential looking--clinical lessons. Ophthalmic Paediatr Genet. 1992 Jun;13(2):101–110. [PubMed]
  • Kinnear PE, Jay B, Witkop CJ., Jr Albinism. Surv Ophthalmol. 1985 Sep-Oct;30(2):75–101. [PubMed]
  • Castronuovo S, Simon JW, Kandel GL, Morier A, Wolf B, Witkop CJ, Jenkins PL. Variable expression of albinism within a single kindred. Am J Ophthalmol. 1991 Apr 15;111(4):419–426. [PubMed]
  • Summers CG, Creel D, Townsend D, King RA. Variable expression of vision in sibs with albinism. Am J Med Genet. 1991 Sep 1;40(3):327–331. [PubMed]
  • EDMUNDS RT. Vision of albinos. Arch Ophthal. 1949 Dec;42(6):755–767. [PubMed]
  • Taylor WO. Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation. Trans Ophthalmol Soc U K. 1978;98(4):423–445. [PubMed]
  • Abadi RV, Pascal E. Visual resolution limits in human albinism. Vision Res. 1991;31(7-8):1445–1447. [PubMed]
  • Wilson HR, Mets MB, Nagy SE, Kressel AB. Albino spatial vision as an instance of arrested visual development. Vision Res. 1988;28(9):979–990. [PubMed]
  • Wilson HR, Mets MB, Nagy SE, Ferrera VP. Spatial frequency and orientation tuning of spatial visual mechanisms in human albinos. Vision Res. 1988;28(9):991–999. [PubMed]
  • Abadi RV, Pascal E. Incremental light detection thresholds across the central visual field of human albinos. Invest Ophthalmol Vis Sci. 1993 Apr;34(5):1683–1690. [PubMed]
  • Silver JH. Low vision aids in the management of visual handicap. Br J Physiol Opt. 1976;31(2):47–87. [PubMed]
  • Collins B, Silver J. Recent experiences in the management of visual impairment in albinism. Ophthalmic Paediatr Genet. 1990 Sep;11(3):225–228. [PubMed]
  • Jay B. What was the matter with Dr Spooner? Br Med J (Clin Res Ed) 1987 Oct 17;295(6604):942–943. [PMC free article] [PubMed]
  • FONDA G. Characteristics and low-vision corrections in albinism. A report of 161 patients. Arch Ophthalmol. 1962 Dec;68:754–761. [PubMed]
  • Summers CG, Oetting WS, King RA. Diagnosis of oculocutaneous albinism with molecular analysis. Am J Ophthalmol. 1996 Jun;121(6):724–726. [PubMed]
  • Pickford RW, Taylor WO. Colour vision of two albinos. Br J Ophthalmol. 1968 Aug;52(8):640–641. [PMC free article] [PubMed]
  • Lourenço PE, FIshman GA, Anderson RJ. Color vision in albino subjects. Doc Ophthalmol. 1983 Sep 30;55(4):341–350. [PubMed]
  • Abadi RV, Dickinson CM, Pascal E, Papas E. Retinal image quality in albinos. A review. Ophthalmic Paediatr Genet. 1990 Sep;11(3):171–176. [PubMed]
  • Gelbart SS, Hoyt CS. Congenital nystagmus: a clinical perspective in infancy. Graefes Arch Clin Exp Ophthalmol. 1988;226(2):178–180. [PubMed]
  • Miller D, Farley VH, McLaughlin R, Sullivan GE. A light-shielded spectacle for albino patients. Ann Ophthalmol. 1972 Aug;4(8):611–612. [PubMed]
  • Hoeft WW, Hughes MK. A comparative study of low-vision patients: Their ocular disease and preference for one specific series of light transmission filters. Am J Optom Physiol Opt. 1981 Oct;58(10):841–845. [PubMed]
  • Margolis S, Siegel IM, Choy A, Breinin GM. Oculocutaneous albinism associated with Apert's syndrome. Am J Ophthalmol. 1977 Dec;84(6):830–839. [PubMed]
  • Holmes JM, Cronin CM. Duane syndrome associated with oculocutaneous albinism. J Pediatr Ophthalmol Strabismus. 1991 Jan-Feb;28(1):32–34. [PubMed]
  • Kushner BJ. Functional amblyopia associated with organic ocular disease. Am J Ophthalmol. 1981 Jan;91(1):39–45. [PubMed]
  • Abadi RV, King-Smith PE. Congenital nystagmus modifies orientational detection. Vision Res. 1979;19(12):1409–1411. [PubMed]
  • Wirtschafter JD, Denslow GT, Shine IB. Quantification of iris translucency in albinism. Arch Ophthalmol. 1973 Oct;90(4):274–277. [PubMed]
  • Collewijn H, Apkarian P, Spekreijse H. The oculomotor behaviour of human albinos. Brain. 1985 Mar;108(Pt 1):1–28. [PubMed]
  • Guyer DR, Lessell S. Periodic alternating nystagmus associated with albinism. J Clin Neuroophthalmol. 1986 Jun;6(2):82–85. [PubMed]
  • Hoyt CS. Neurovisual adaptations to subnormal vision in children. Aust N Z J Ophthalmol. 1987 Feb;15(1):57–63. [PubMed]
  • Abadi RV, Pascal E, Whittle J, Worfolk R. Retinal fixation behavior in human albinos. Optom Vis Sci. 1989 May;66(5):276–280. [PubMed]
  • Abadi RV, Pascal E. Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. Br J Ophthalmol. 1994 May;78(5):349–352. [PMC free article] [PubMed]
  • Fielder AR, Evans NM. Is the geniculostriate system a prerequisite for nystagmus? Eye (Lond) 1988;2(Pt 6):628–635. [PubMed]
  • Tresidder J, Fielder AR, Nicholson J. Delayed visual maturation: ophthalmic and neurodevelopmental aspects. Dev Med Child Neurol. 1990 Oct;32(10):872–881. [PubMed]
  • Apkarian P, Eckhardt PG, van Schooneveld MJ. Detection of optic pathway misrouting in the human albino neonate. Neuropediatrics. 1991 Nov;22(4):211–215. [PubMed]
  • KRILL AE. TOTAL COLOR BLINDNESS AND ALBINISM. TWO CAUSES OF SUBNORMAL VISUAL ACUITY IN CHILDREN. Postgrad Med. 1965 Mar;37:279–283. [PubMed]
  • Cheong PY, King RA, Bateman JB. Oculocutaneous albinism: variable expressivity of nystagmus in a sibship. J Pediatr Ophthalmol Strabismus. 1992 May-Jun;29(3):185–188. [PubMed]
  • ANDERSON JR. Causes and treatment of congenital eccentric nystagmus. Br J Ophthalmol. 1953 May;37(5):267–281. [PMC free article] [PubMed]
  • KESTENBAUM A. Nouvelle opération du nystagmus. Bull Soc Ophtalmol Fr. 1953 Jun;6:599–602. [PubMed]
  • Dell'Osso LF, Flynn JT. Congenital nystagmus surgery. A quantitative evaluation of the effects. Arch Ophthalmol. 1979 Mar;97(3):462–469. [PubMed]
  • Flynn JT, Dell'Osso LF. The effects of congenital nystagmus surgery. Ophthalmology. 1979 Aug;86(8):1414–1427. [PubMed]
  • Zubcov AA, Stärk N, Weber A, Wizov SS, Reinecke RD. Improvement of visual acuity after surgery for nystagmus. Ophthalmology. 1993 Oct;100(10):1488–1497. [PubMed]
  • Helveston EM, Ellis FD, Plager DA. Large recession of the horizontal recti for treatment of nystagmus. Ophthalmology. 1991 Aug;98(8):1302–1305. [PubMed]
  • von Noorden GK, Sprunger DT. Large rectus muscle recessions for the treatment of congenital nystagmus. Arch Ophthalmol. 1991 Feb;109(2):221–224. [PubMed]
  • Egbert JE, Anderson JH, Summers CG. Increased duration of low retinal slip velocities following retroequatorial placement of horizontal recti. J Pediatr Ophthalmol Strabismus. 1995 Nov-Dec;32(6):359–363. [PubMed]
  • Abadi RV, Dickinson CM. Monochromatic fundus photography of human albinos. Arch Ophthalmol. 1983 Nov;101(11):1706–1711. [PubMed]
  • Falls HF, Wolter JR, Alpern M. Typical total monochromacy. A histological and psychophysical study. Arch Ophthalmol. 1965 Nov;74(5):610–616. [PubMed]
  • Merin S, Rowe H, Auerbach E, Landau J. Syndrome of congenital high myopia with nyctalopia. Report of findings in 25 families. Am J Ophthalmol. 1970 Oct;70(4):541–547. [PubMed]
  • Curran RE, Robb RM. Isolated foveal hypoplasia. Arch Ophthalmol. 1976 Jan;94(1):48–50. [PubMed]
  • Yoshizumi MO, Thomas JV, Hirose T. Foveal hypoplasia and bilateral 360-degree peripheral retinal rosettes. Am J Ophthalmol. 1979 Feb;87(2):186–192. [PubMed]
  • O'Donnell FE, Jr, Pappas HR. Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome. Arch Ophthalmol. 1982 Feb;100(2):279–281. [PubMed]
  • Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. 1984 May-Jun;28(6):621–642. [PubMed]
  • Oliver MD, Dotan SA, Chemke J, Abraham FA. Isolated foveal hypoplasia. Br J Ophthalmol. 1987 Dec;71(12):926–930. [PMC free article] [PubMed]
  • Howard CW, Smith AG, Warman R. Macular hypoplasia in familial cataracts. J Pediatr Ophthalmol Strabismus. 1993 May-Jun;30(3):176–177. [PubMed]
  • Gregor Z. The perifoveal vasculature in albinism. Br J Ophthalmol. 1978 Aug;62(8):554–557. [PMC free article] [PubMed]
  • Spedick MJ, Beauchamp GR. Retinal vascular and optic nerve abnormalities in albinism. J Pediatr Ophthalmol Strabismus. 1986 Mar-Apr;23(2):58–63. [PubMed]
  • KRILL AE, LEE GB. The electroretinogram in albinos and carriers of the ocular albino trait. Arch Ophthalmol. 1963 Jan;69:32–38. [PubMed]
  • Wack MA, Peachey NS, Fishman GA. Electroretinographic findings in human oculocutaneous albinism. Ophthalmology. 1989 Dec;96(12):1778–1785. [PubMed]
  • Tomei F, Wirth A. The electroretinogram of albinos. Vision Res. 1978;18(10):1465–1466. [PubMed]
  • Fagadau WR, Heinemann MH, Cotlier E. Hermansky-Pudlak syndrome: albinism with lipofuscin storage. Int Ophthalmol. 1981 Aug;4(1-2):113–122. [PubMed]
  • Reeser F, Weinstein GW, Feiock KB, Oser RS. Electro-oculography as a test of retinal function. The normal and supernormal EOG. Am J Ophthalmol. 1970 Oct;70(4):505–514. [PubMed]
  • Guillery RW. Visual pathways in albinos. Sci Am. 1974 May;230(5):44–54. [PubMed]
  • Guillery RW, Okoro AN, Witkop CJ., Jr Abnormal visual pathways in the brain of a human albino. Brain Res. 1975 Oct 17;96(2):373–377. [PubMed]
  • Kupfer C, Chumbley L, Downer JC. Quantitative histology of optic nerve, optic tract and lateral geniculate nucleus of man. J Anat. 1967 Jun;101(Pt 3):393–401. [PubMed]
  • Creel DJ, Summers CG, King RA. Visual anomalies associated with albinism. Ophthalmic Paediatr Genet. 1990 Sep;11(3):193–200. [PubMed]
  • Creel D, Witkop CJ, Jr, King RA. Asymmetric visually evoked potentials in human albinos: evidence for visual system anomalies. Invest Ophthalmol. 1974 Jun;13(6):430–440. [PubMed]
  • Creel D, O'Donnell FE, Jr, Witkop CJ., Jr Visual system anomalies in human ocular albinos. Science. 1978 Sep 8;201(4359):931–933. [PubMed]
  • Creel D, Spekreijse H, Reits D. Evoked potentials in albinos: efficacy of pattern stimuli in detecting misrouted optic fibers. Electroencephalogr Clin Neurophysiol. 1981 Dec;52(6):595–603. [PubMed]
  • Apkarian P, Reits D, Spekreijse H, Van Dorp D. A decisive electrophysiological test for human albinism. Electroencephalogr Clin Neurophysiol. 1983 May;55(5):513–531. [PubMed]
  • Creel D, Boxer LA, Fauci AS. Visual and auditory anomalies in Chediak-Higashi syndrome. Electroencephalogr Clin Neurophysiol. 1983 Mar;55(3):252–257. [PubMed]
  • Apkarian P, Shallo-Hoffmann J. VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. Invest Ophthalmol Vis Sci. 1991 Aug;32(9):2653–2661. [PubMed]
  • Brodsky MC, Glasier CM, Creel DJ. Magnetic resonance imaging of the visual pathways in human albinos. J Pediatr Ophthalmol Strabismus. 1993 Nov-Dec;30(6):382–385. [PubMed]
  • St John R, Timney B. Sensitivity deficits consistent with aberrant crossed visual pathways in human albinos. Invest Ophthalmol Vis Sci. 1981 Dec;21(6):873–877. [PubMed]
  • Silver J. Studies on the factors that govern directionality of axonal growth in the embryonic optic nerve and at the chiasm of mice. J Comp Neurol. 1984 Feb 20;223(2):238–251. [PubMed]
  • LaVail JH, Nixon RA, Sidman RL. Genetic control of retinal ganglion cell projections. J Comp Neurol. 1978 Dec 1;182(3):399–421. [PubMed]
  • Webster MJ, Shatz CJ, Kliot M, Silver J. Abnormal pigmentation and unusual morphogenesis of the optic stalk may be correlated with retinal axon misguidance in embryonic Siamese cats. J Comp Neurol. 1988 Mar 22;269(4):592–611. [PubMed]
  • Silver J, Sapiro J. Axonal guidance during development of the optic nerve: the role of pigmented epithelia and other extrinsic factors. J Comp Neurol. 1981 Nov 10;202(4):521–538. [PubMed]
  • Strongin AC, Guillery RW. The distribution of melanin in the developing optic cup and stalk and its relation to cellular degeneration. J Neurosci. 1981 Nov;1(11):1193–1204. [PubMed]
  • Guillery RW, Jeffery G, Cattanach BM. Abnormally high variability in the uncrossed retinofugal pathway of mice with albino mosaicism. Development. 1987 Dec;101(4):857–867. [PubMed]
  • Colello RJ, Jeffery G. Evaluation of the influence of optic stalk melanin on the chiasmatic pathways in the developing rodent visual system. J Comp Neurol. 1991 Mar 8;305(2):304–312. [PubMed]
  • Guo SQ, Reinecke RD, Fendick M, Calhoun JH. Visual pathway abnormalities in albinism and infantile nystagmus: VECPs and stereoacuity measurements. J Pediatr Ophthalmol Strabismus. 1989 Mar-Apr;26(2):97–104. [PubMed]
  • Shallo-Hoffmann J, Apkarian P. Visual evoked response asymmetry only in the albino member of a family with congenital nystagmus. Invest Ophthalmol Vis Sci. 1993 Mar;34(3):682–689. [PubMed]
  • Fitzgerald K, Cibis GW. The value of flash visual evoked potentials in albinism. J Pediatr Ophthalmol Strabismus. 1994 Jan-Feb;31(1):18–25. [PubMed]
  • ILLINGWORTH RS. Delayed visual maturation. Arch Dis Child. 1961 Aug;36:407–409. [PMC free article] [PubMed]
  • Fielder AR, Russell-Eggitt IR, Dodd KL, Mellor DH. Delayed visual maturation. Trans Ophthalmol Soc U K. 1985;104(Pt 6):653–661. [PubMed]
  • Birch E, Hale L, Stager D, Fuller D, Birch D. Operant acuity of toddlers and developmentally delayed children with low vision. J Pediatr Ophthalmol Strabismus. 1987 Mar-Apr;24(2):64–69. [PubMed]
  • McDonald MA, Dobson V, Sebris SL, Baitch L, Varner D, Teller DY. The acuity card procedure: a rapid test of infant acuity. Invest Ophthalmol Vis Sci. 1985 Aug;26(8):1158–1162. [PubMed]
  • Teller DY, McDonald MA, Preston K, Sebris SL, Dobson V. Assessment of visual acuity in infants and children: the acuity card procedure. Dev Med Child Neurol. 1986 Dec;28(6):779–789. [PubMed]
  • Chandna A, Pearson CM, Doran RM. Preferential looking in clinical practice: a year's experience. Eye (Lond) 1988;2(Pt 5):488–495. [PubMed]
  • Mayer DL, Beiser AS, Warner AF, Pratt EM, Raye KN, Lang JM. Monocular acuity norms for the Teller Acuity Cards between ages one month and four years. Invest Ophthalmol Vis Sci. 1995 Mar;36(3):671–685. [PubMed]
  • Salomão SR, Ventura DF. Large sample population age norms for visual acuities obtained with Vistech-Teller Acuity Cards. Invest Ophthalmol Vis Sci. 1995 Mar;36(3):657–670. [PubMed]
  • Wright KW, Walonker F, Edelman P. 10-Diopter fixation test for amblyopia. Arch Ophthalmol. 1981 Jul;99(7):1242–1246. [PubMed]
  • Wright KW, Edelman PM, Walonker F, Yiu S. Reliability of fixation preference testing in diagnosing amblyopia. Arch Ophthalmol. 1986 Apr;104(4):549–553. [PubMed]
  • Zipf RF. Binocular fixation pattern. Arch Ophthalmol. 1976 Mar;94(3):401–405. [PubMed]
  • Westheimer G. Scaling of visual acuity measurements. Arch Ophthalmol. 1979 Feb;97(2):327–330. [PubMed]
  • Holladay JT, Prager TC. Mean visual acuity. Am J Ophthalmol. 1991 Mar 15;111(3):372–374. [PubMed]
  • Rosner B. Statistical methods in ophthalmology: an adjustment for the intraclass correlation between eyes. Biometrics. 1982 Mar;38(1):105–114. [PubMed]
  • Preston KL, McDonald M, Sebris SL, Dobson V, Teller DY. Validation of the acuity card procedure for assessment of infants with ocular disorders. Ophthalmology. 1987 Jun;94(6):644–653. [PubMed]
  • Hertz BG, Rosenberg J. Acuity card testing of spastic children: preliminary results. J Pediatr Ophthalmol Strabismus. 1988 May-Jun;25(3):139–144. [PubMed]
  • Adams RJ, Courage ML. Assessment of visual acuity in children with severe neurological impairments. J Pediatr Ophthalmol Strabismus. 1990 Jul-Aug;27(4):185–189. [PubMed]
  • Courage ML, Adams RJ. Visual acuity assessment from birth to three years using the acuity card procedure: cross-sectional and longitudinal samples. Optom Vis Sci. 1990 Sep;67(9):713–718. [PubMed]
  • Hartmann EE, Ellis GS, Jr, Morgan KS, Love A, May JG. The acuity card procedure: longitudinal assessments. J Pediatr Ophthalmol Strabismus. 1990 Jul-Aug;27(4):178–184. [PubMed]
  • Hertz BG, Rosenberg J. Effect of mental retardation and motor disability on testing with visual acuity cards. Dev Med Child Neurol. 1992 Feb;34(2):115–122. [PubMed]
  • Birch EE, Hale LA. Criteria for monocular acuity deficit in infancy and early childhood. Invest Ophthalmol Vis Sci. 1988 Apr;29(4):636–643. [PubMed]
  • Dobson V, Teller DY. Visual acuity in human infants: a review and comparison of behavioral and electrophysiological studies. Vision Res. 1978;18(11):1469–1483. [PubMed]
  • Magoon EH, Robb RM. Development of myelin in human optic nerve and tract. A light and electron microscopic study. Arch Ophthalmol. 1981 Apr;99(4):655–659. [PubMed]
  • Abramov I, Gordon J, Hendrickson A, Hainline L, Dobson V, LaBossiere E. The retina of the newborn human infant. Science. 1982 Jul 16;217(4556):265–267. [PubMed]
  • Garey LJ, de Courten C. Structural development of the lateral geniculate nucleus and visual cortex in monkey and man. Behav Brain Res. 1983 Oct;10(1):3–13. [PubMed]
  • Atkinson J. Human visual development over the first 6 months of life. A review and a hypothesis. Hum Neurobiol. 1984;3(2):61–74. [PubMed]
  • Hendrickson AE, Yuodelis C. The morphological development of the human fovea. Ophthalmology. 1984 Jun;91(6):603–612. [PubMed]
  • Birch EE. Infant interocular acuity differences and binocular vision. Vision Res. 1985;25(4):571–576. [PubMed]
  • Quinn GE, Berlin JA, James M. The Teller acuity card procedure. Three testers in a clinical setting. Ophthalmology. 1993 Apr;100(4):488–494. [PubMed]
  • Dobson V, Quinn GE, Biglan AW, Tung B, Flynn JT, Palmer EA. Acuity card assessment of visual function in the cryotherapy for retinopathy of prematurity trial. Invest Ophthalmol Vis Sci. 1990 Sep;31(9):1702–1708. [PubMed]
  • Kushner BJ. Grating acuity tests should not be used for social service purposes in preliterate children. Arch Ophthalmol. 1994 Aug;112(8):1030–1031. [PubMed]
  • Abadi RV, Sandikcioglu M. Visual resolution in congenital pendular nystagmus. Am J Optom Physiol Opt. 1975 Sep;52(9):573–581. [PubMed]
  • Loshin DS, Browning RA. Contrast sensitivity in albinotic patients. Am J Optom Physiol Opt. 1983 Mar;60(3):158–166. [PubMed]
  • Meiusi RS, Lavoie JD, Summers CG. The effect of grating orientation on resolution acuity in patients with nystagmus. J Pediatr Ophthalmol Strabismus. 1993 Jul-Aug;30(4):259–261. [PubMed]
  • Bedell HE, Loshin DS. Interrelations between measures of visual acuity and parameters of eye movement in congenital nystagmus. Invest Ophthalmol Vis Sci. 1991 Feb;32(2):416–421. [PubMed]
  • Sokol S, Hansen VC, Moskowitz A, Greenfield P, Towle VL. Evoked potential and preferential looking estimates of visual acuity in pediatric patients. Ophthalmology. 1983 May;90(5):552–562. [PubMed]
  • Mayer DL, Fulton AB. Preferential looking grating acuities of infants at risk of amblyopia. Trans Ophthalmol Soc U K. 1985;104(Pt 8):903–911. [PubMed]
  • Kushner BJ, Lucchese NJ, Morton GV. Grating visual acuity with Teller cards compared with Snellen visual acuity in literate patients. Arch Ophthalmol. 1995 Apr;113(4):485–493. [PubMed]
  • Mayer DL, Fulton AB, Hansen RM. Visual acuity of infants and children with retinal degenerations. Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):51–56. [PubMed]
  • Mayer DL, Fulton AB, Rodier D. Grating and recognition acuities of pediatric patients. Ophthalmology. 1984 Aug;91(8):947–953. [PubMed]
  • Jenkins PL, Simon JW, Kandel GL, Forster T. A simple grating visual acuity test for impaired children. Am J Ophthalmol. 1985 Jun 15;99(6):652–658. [PubMed]
  • Marx MS, Werner P, Cohen-Mansfield J, Hartmann EE. Visual acuity estimates in noncommunicative elderly persons. Invest Ophthalmol Vis Sci. 1990 Mar 1;31(3):593–596. [PubMed]
  • Ferris FL, 3rd, Sperduto RD. Standardized illumination for visual acuity testing in clinical research. Am J Ophthalmol. 1982 Jul;94(1):97–98. [PubMed]
  • Ferris FL, 3rd, Kassoff A, Bresnick GH, Bailey I. New visual acuity charts for clinical research. Am J Ophthalmol. 1982 Jul;94(1):91–96. [PubMed]
  • Teller DY, Morse R, Borton R, Regal D. Visual acuity for vertical and diagonal gratings in human infants. Vision Res. 1974 Dec;14(12):1433–1439. [PubMed]
  • Dobson V, Salem D, Carson JB. Visual acuity in infants--the effect of variations in stimulus luminance within the photopic range. Invest Ophthalmol Vis Sci. 1983 Apr;24(4):519–522. [PubMed]
  • Oguni M, Tanaka O, Shinohara H, Yoshioka T, Setogawa T. Ultrastructural study on the retinal pigment epithelium of human embryos, with special reference to quantitative study on the development of melanin granules. Acta Anat (Basel) 1991;140(4):335–342. [PubMed]
  • Mund ML, Rodrigues MM, Fine BS. Light and electron microscopic observations on the pigmented layers of the developing human eye. Am J Ophthalmol. 1972 Feb;73(2):167–182. [PubMed]
  • Nussbaum JJ, Pruett RC, Delori FC. Historic perspectives. Macular yellow pigment. The first 200 years. Retina. 1981;1(4):296–310. [PubMed]
  • Bone RA, Landrum JT, Tarsis SL. Preliminary identification of the human macular pigment. Vision Res. 1985;25(11):1531–1535. [PubMed]
  • Handelman GJ, Dratz EA, Reay CC, van Kuijk JG. Carotenoids in the human macula and whole retina. Invest Ophthalmol Vis Sci. 1988 Jun;29(6):850–855. [PubMed]
  • Yuodelis C, Hendrickson A. A qualitative and quantitative analysis of the human fovea during development. Vision Res. 1986;26(6):847–855. [PubMed]
  • Isenberg SJ. Macular development in the premature infant. Am J Ophthalmol. 1986 Jan 15;101(1):74–80. [PubMed]
  • Abadi RV, Cox MJ. The distribution of macular pigment in human albinos. Invest Ophthalmol Vis Sci. 1992 Mar;33(3):494–497. [PubMed]

Articles from Transactions of the American Ophthalmological Society are provided here courtesy of American Ophthalmological Society