Grating acuity in albinism in the first three years of life

Journal of AAPOS

Volumn 6, Issue 6, 2002, Pages 393-396

  Whang, Sarah J ^a   King, Richard A ^a,b   Summers, C Gail ^a,b,c  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MELANIN; VISUAL PIGMENT;

AGE; ALBINISM; CONTROLLED STUDY; CORNEA OPACITY; CORNEA REFLEX; DIAGNOSTIC IMAGING; FEMALE; HUMAN; IRIS; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETINA FOVEA; RETROSPECTIVE STUDY; REVIEW; VISUAL ACUITY; ARTICLE; CROSS-SECTIONAL STUDY; EYE FUNDUS; INFANT; METHODOLOGY; OCULAR ALBINISM; PATHOPHYSIOLOGY; VISION TEST; VISUAL SYSTEM EXAMINATION;

ALBINISM, OCULAR; ALBINISM, OCULOCUTANEOUS; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; FEMALE; FUNDUS OCULI; HUMANS; INFANT; MALE; RETROSPECTIVE STUDIES; TRANSILLUMINATION; VISION TESTS; VISUAL ACUITY;

EID: 0036887112     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpa.2002.129047     Document Type: Article

References (24)

1. Summers CG. Vision in albinism. Trans Am Ophthalmol Soc 1996;94:1095-155.
2. Jacobson SG, Mohindra I, Held R, Dryja TP, Albert DM. Visual acuity development in tyrosinase negative oculocutaneous albinism. Doc Opthalmol 1984;56:337-44.
3. Fielder AR, Russell-Eggitt IR, Dodd KL, Mellor DH. Delayed visual maturation. Trans Ophthalmol Soc UK 1985;104:653-61.
4. Fielder AR, Dobson V, Moseley MJ, Mayer DL. Preferential looking: clinical lessons. Ophthalmic Paediatr Genet 1992;13:101-10.
5. Summers CG, Knobloch WH, Witkop CJ, Jr, King RA. Hermansky-Pudlak syndrome: ophthalmic findings. Ophthalmology 1988;95:545-54.
6. Salamão SR, Ventura DF. Large sample population age norms for visual acuities obtained with Vistech-Teller acuity cards. Invest Ophthalmol Vis Sci 1995;36:657-70.
7. Snedecor GW, Cochran WG. Statistical methods. 7th ed. Ames: Iowa University Press; 1980. p. 191-3.
8. Pritz RA, Strunk KM, Giebel LB, King RA. Detection of mutations in the tyrosinase gene in a patient with Type 1A oculocutaneous albinism. N Engl J Med 1990;322:1724-8.
9. Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989;164:990-6.
10. Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, et al. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 1992;257:1121-4.
11. Rinchik EM, Bultman SJ, Horsthemke B, Lee S, Stunk KM, Spritz RA, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993;361:72-6.
12. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenbrg SC, Boissy YL, et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3." Am J Hum Genet 1996;48:1145-56.
13. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 2001;69:981-8.
14. Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci USA 1997;94:9238-43.
15. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996;14:300-6.
16. Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 2000;108:423-7.
17. Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001;69:1022-32.
18. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002;30:321-4.
19. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996;14:307-11.
20. Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, et al. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum Mol Genet 1997;6:1091-8.
21. 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;26:1158-62.
22. 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;24:64-9.
23. Rydberg A, Ericson B. Assessing visual function in children younger than 1 1/2 years with normal and subnormal vision: evaluation of methods. J Pediatr Ophthalmol Strabismus 1998;35:312-9.
24. Meiusi RS, Lavoie JD, Summers CG. The effect of grating orientation on resolution acuity in patients with nystagmus. J Pediatr Ophthalmol Strabismus 1993;30:259-61.