Assessment of Night Vision Problems in Patients with Congenital Stationary Night Blindness

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Bijveld, Mieke M C ^a,b   van Genderen, Maria M ^a   Hoeben, Frank P ^a   Katzin, Amir A ^a   van Nispen, Ruth M A ^c   Riemslag, Frans C C ^a,d   Kappers, Astrid M L ^b  

^a Bartimeus Institute for the Visually Impaired   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ASSESSMENT; CONGENITAL STATIONARY NIGHT BLINDNESS; CONTROLLED STUDY; DARK ADAPTATION; HUMAN; IMAGE ANALYSIS; LIGHT INTENSITY; LUMINANCE; MAJOR CLINICAL STUDY; MALE; PATTERN RECOGNITION; RETINA DISEASE; RETINA ROD; SCHOOL CHILD; SIGNAL TRANSDUCTION; VISION; VISUAL DISORDER; VISUAL FIELD; VISUAL SYSTEM EXAMINATION; VISUAL THRESHOLD; CASE CONTROL STUDY; ELECTRORETINOGRAPHY; EYE DISEASE; FEMALE; LIGHT; MIDDLE AGED; MYOPIA; NIGHT BLINDNESS; PATHOPHYSIOLOGY; QUESTIONNAIRE; VISUAL ACUITY; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; DARK ADAPTATION; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; LIGHT; MALE; MIDDLE AGED; MYOPIA; NIGHT BLINDNESS; NIGHT VISION; PATTERN RECOGNITION, VISUAL; QUESTIONNAIRES; VISUAL ACUITY; VISUAL FIELDS;

EID: 84877026894     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0062927     Document Type: Article

References (34)

1. Schubert G, Bornschein H, (1952) Beitrag zur analyse des menschlichen elektroretinogramms. Ophthalmologica 123: 396-413.
2. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T, (1986) Congenital stationary night blindness with negative electroretinogram: A new classification. Arch Ophthalmol 104: 1013-1020.
3. Chang B, Heckenlively JR, Bayley PR, Brecha NC, Davisson MT, et al. (2006) The nob2 mouse, a null mutation in cacnalf: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci 23: 11-24.
4. Gregg RG, Kamermans M, Klooster J, Lukasiewicz PD, Peachey NS, et al. (2007) Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness. J Neurophysiol 98: 3023-3033.
5. Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, et al. (2000) The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet 26: 324-327.
6. Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, et al. (2000) Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet 26: 319-323.
7. Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, et al. (2005) Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-hz flicker electroretinogram. Invest Ophthalmol Vis Sci 46: 4328-4335.
8. Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, et al. (2005) Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A 102: 4884-4889.
9. van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, et al. (2009) Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet 85: 730-736.
10. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, et al. (2009) TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 85: 720-729.
11. Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, et al. (2009) Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am J Hum Genet 85: 711-719.
12. Audo I, Bujakowska K, Orhan E, Poloschek C, Defoort-Dhellemmes S, et al. (2012) Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 90: 321-330.
13. Boycott KM, Pearce WG, Bech-Hansen NT, (2000) Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol 35: 204-213.
14. Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, et al. (2009) A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Invest Ophthalmol Vis Sci 50: 2344-2350.
15. Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, et al. (2006) Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet 79: 657-667.
16. Peters A, Locke K, Birch D, (2000) Comparison of the Goldmann-Weekers dark adaptometer™ and LKC technologies scotopic sensitivity tester-1™. Documenta ophthalmologica 101: 1-9.
17. Bijveld M, Florijn R, Bergen A, van den Born L, Prick L, et al. (2013) Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness. Ophthalmology. In press.
18. Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, et al. (2003) Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. Br J Ophthalmol 87: 1413-1420.
19. Bradshaw K, Allen L, Trump D, Hardcastle A, George N, et al. (2004) A comparison of ERG abnormalities in XLRS and XLCSNB. Doc Ophthalmol 108: 135-145.
20. Glass I, Good P, Coleman M, Fullwood P, Giles M, et al. (1993) Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. J Med Genet 30: 1044-1050.
21. Nakamura M, Ito S, Terasaki H, Miyake Y, (2001) Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Invest Ophthalmol Visual Sci 42: 1610-1616.
22. Tremblay F, Laroche RG, De Becker I, (1995) The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Vision Res 35: 2383-2393.
23. Hawksworth N, Headland S, Good P, Thomas N, Clarke A, (1995) Aland island eye disease: Clinical and electrophysiological studies of a Welsh family. Br J Ophthalmol 79: 424-430.
24. Hope CI, Sharp DM, Hemara-Wahanui A, Sissingh JI, Lundon P, et al. (2005) Clinical manifestations of a unique x-linked retinal disorder in a large new Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2. Clin Experiment Ophthalmol 33: 129-136.
25. Pearce WG, Reedyk M, Coupland SG, (1990) Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol 25: 3-10.
26. Turano KA, Geruschat DR, Stahl JW, Massof RW, (1999) Perceived visual ability for independent mobility in persons with retinitis pigmentosa. Invest Ophthalmol Vis Sci 40: 865-877.
27. Turano KA, Massof RW, Quigley HA, (2002) A self-assessment instrument designed for measuring independent mobility in RP patients: Generalizability to glaucoma patients. Invest Ophthalmol Vis Sci 43: 2874-2881.
28. Owsley C, McGwin G Jr, Scilley K, Kallies K, (2006) Development of a questionnaire to assess vision problems under low luminance in age-related maculopathy. Invest Ophthalmol Vis Sci 47: 528-535.
29. Finger RP, Fenwick E, Owsley C, Holz FG, Lamoureux EL, (2011) Visual functioning and quality of life under low luminance: Evaluation of the german low luminance questionnaire. Invest Ophthalmol Vis Sci 52: 8241-8249.
30. Esterman B, (1982) Functional scoring of the binocular field. Ophthalmology 89: 1226-1234.
31. Cornelissen FW, Bootsma A, Kooijman AC, (1995) Object perception by visually impaired people at different light levels. Vision Res 35: 161-168.
32. Makous W (1998) Optics and photometry. In Carpenter RHS, Robson JG, editors. Vision research: A practical guide to laboratory methods. Oxford: Oxford University Press. 1-49.
33. Rotenstreich Y, Fishman GA, Lindeman M, Alexander KR, (2004) The application of chromatic dark-adapted kinetic perimetry to retinal diseases. Ophthalmology 111: 1222-1227.
34. Riemslag FCC, (2009) Visually impaired children:"coming to better terms". Documenta Ophthalmologica 119: 1-7.