night blindness

Summary

Summary: Failure or imperfection of vision at night or in dim light, with good vision only on bright days. (Dorland, 27th ed)

Top Publications

  1. Peachey N, Pearring J, Bojang P, Hirschtritt M, Sturgill Short G, Ray T, et al. Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation. J Neurophysiol. 2012;108:2442-51 pubmed publisher
    Mutations in TRPM1 are found in humans with an autosomal recessive form of complete congenital stationary night blindness (cCSNB). The Trpm1(-/-) mouse has been an important animal model for this condition...
  2. Christian P, West K, Khatry S, LeClerq S, Kimbrough Pradhan E, Katz J, et al. Maternal night blindness increases risk of mortality in the first 6 months of life among infants in Nepal. J Nutr. 2001;131:1510-2 pubmed
    b>Night blindness occurs commonly among women during pregnancy in rural NEPAL: We examined the relationship between maternal night blindness and the risk of mortality occurring among infants in the first 6 mo of life...
  3. Jacobi F, Hamel C, Arnaud B, Blin N, Broghammer M, Jacobi P, et al. A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. Am J Ophthalmol. 2003;135:733-6 pubmed
    To describe a French family with the incomplete type of X-linked congenital stationary night blindness (CSNB2) associated with a novel mutation in the retina-specific calcium channel alpha(1) subunit gene (CACNA1F).
  4. Schemann J, Banou A, Malvy D, Guindo A, Traore L, Momo G. National immunisation days and vitamin A distribution in Mali: has the vitamin A status of pre-school children improved?. Public Health Nutr. 2003;6:233-44 pubmed
    ..Using a pre-post design, the change in prevalence of vitamin A deficiency was examined in pre-school children in Mali...
  5. Jin S, Cornwall M, Oprian D. Opsin activation as a cause of congenital night blindness. Nat Neurosci. 2003;6:731-5 pubmed
    Three different mutations of rhodopsin are known to cause autosomal dominant congenital night blindness in humans...
  6. Li L, Dowling J. Disruption of the olfactoretinal centrifugal pathway may relate to the visual system defect in night blindness b mutant zebrafish. J Neurosci. 2000;20:1883-92 pubmed
    We describe here a dominant mutation, night blindness b (nbb), which causes an age-related visual system defect in zebrafish...
  7. Pardue M, McCall M, LaVail M, Gregg R, Peachey N. A naturally occurring mouse model of X-linked congenital stationary night blindness. Invest Ophthalmol Vis Sci. 1998;39:2443-9 pubmed
    ..To describe a naturally occurring X-linked recessive mutation, no b-wave (nob), that compromises visual transmission between photoreceptors and second-order neurons in mice...
  8. Bech Hansen N, Naylor M, Maybaum T, Pearce W, Koop B, Fishman G, et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:264-7 pubmed
    X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus...
  9. Arlappa N, Balakrishna N, Laxmaiah A, Raghu P, Rao V, Nair K, et al. Prevalence of vitamin A deficiency and its determinants among the rural pre-school children of Madhya Pradesh, India. Ann Hum Biol. 2011;38:131-6 pubmed publisher
    ..Vitamin A deficiency (VAD) continues to be a major public health nutritional problem in India, even though the National Vitamin A Prophylaxis Programme has been in operation for more than three decades...

More Information

Publications62

  1. Sippel K, DeStefano J, Berson E, Dryja T. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. Invest Ophthalmol Vis Sci. 1998;39:665-70 pubmed
    ..sequence of the coding regions of the human arrestin locus and to determine whether defects in this sequence are present among patients with retinitis pigmentosa (RP) or types of stationary night blindness in addition to Oguchi disease.
  2. Nakamachi Y, Nakamura M, Fujii S, Yamamoto M, Okubo K. Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene. Am J Ophthalmol. 1998;125:249-51 pubmed
    ..To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene...
  3. Zhang Q, Zulfiqar F, Riazuddin S, Xiao X, Yasmeen A, Rogan P, et al. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene. Mol Vis. 2005;11:977-85 pubmed
    ..The purpose of this paper is to map the locus for a variant form of Oguchi disease in a Pakistani family and to identify the causative mutation...
  4. Zeitz C, van Genderen M, Neidhardt J, Luhmann U, Hoeben F, Forster U, et al. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci. 2005;46:4328-35 pubmed
    Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision that occurs in autosomal dominant, autosomal recessive, or X-linked forms...
  5. Bradshaw K, Allen L, Trump D, Hardcastle A, George N, Moore A. A comparison of ERG abnormalities in XLRS and XLCSNB. Doc Ophthalmol. 2004;108:135-45 pubmed
    ..The ERG results suggest that the RS1 and CACNA1F gene products have comparable functional consequences and that all three genes may affect multiple retinal sites...
  6. Nakamura M, Yamamoto S, Okada M, Ito S, Tano Y, Miyake Y. Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease. Ophthalmology. 2004;111:1410-4 pubmed
    ..The aim of this article is to report 2 novel mutations in the arrestin gene in 2 Japanese patients with Oguchi's disease and to describe the clinical features with the mutations...
  7. Semba R, de Pee S, Panagides D, Poly O, Bloem M. Risk factors for nightblindness among women of childbearing age in Cambodia. Eur J Clin Nutr. 2003;57:1627-32 pubmed
    ..To characterize risk factors for nightblindness among nonpregnant women of childbearing age, a group recently recognized to be at high risk of vitamin A deficiency in some developing countries...
  8. Zhang Z, Gu Y, Li L, Long T, Guo Q, Shi L. A potential spontaneous rat model of X-linked congenital stationary night blindness. Doc Ophthalmol. 2003;107:53-7 pubmed
    To describe a possible spontaneous rat model of X-linked congenital stationary night blindness (CSNB).
  9. Sandmeyer L, Bellone R, Archer S, Bauer B, Nelson J, Forsyth G, et al. Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. Vet Ophthalmol. 2012;15:18-22 pubmed publisher
    To determine if congenital stationary night blindness (CSNB) exists in the Miniature Horse in association with leopard complex spotting patterns (LP), and to investigate if CSNB in the Miniature Horse is associated with three single ..
  10. An J, Wang L, Guo Q, Li L, Xia F, Zhang Z. Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation. J Neurogenet. 2012;26:363-73 pubmed publisher
    Cacna1f gene mutation could lead to incomplete congenital stationary night blindness (iCSNB) disease. The CSNB-like phenotype rat is a spontaneous rat model caused by Cacna1f gene mutation...
  11. Dryja T, Hahn L, Reboul T, Arnaud B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet. 1996;13:358-60 pubmed
    Patients with congenital stationary night blindness enjoy normal daytime vision, which is mediated by cone photoreceptors, but are blind when ambient light is so dim that a normal individual would utilize only rod photoreceptors to see ..
  12. Barnes C, Alexander K, Fishman G. A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction. Ophthalmology. 2002;109:575-83 pubmed
    To characterize a distinctive form of congenital stationary night blindness (CSNB).
  13. al Jandal N, Farrar G, Kiang A, Humphries M, Bannon N, Findlay J, et al. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat. 1999;13:75-81 pubmed
    ..to be responsible for some forms of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and subsequent disturbance of day vision that may eventually result in total blindness...
  14. Naeem M, Chavali V, Ali S, Iqbal M, Riazuddin S, Khan S, et al. GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2012;53:1353-61 pubmed publisher
    Congenital stationary night blindness is a nonprogressive retinal disorder manifesting as impaired night vision and is generally associated with other ocular symptoms, such as nystagmus, myopia, and strabismus...
  15. Afridi H, Kazi T, Kazi N, Kandhro G, Shah A, Baig J, et al. Chromium and manganese levels in biological samples of normal and night blindness children of age groups (3-7) and (8-12) years. Biol Trace Elem Res. 2011;143:103-15 pubmed publisher
    ..was designed to compare the levels of chromium (Cr) and manganese (Mn) in scalp hair, blood, and urine of night blindness in children age ranged (3-7) and (8-12) years of both genders, comparing them to sex- and age-matched ..
  16. Boycott K, Pearce W, Musarella M, Weleber R, Maybaum T, Birch D, et al. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am J Hum Genet. 1998;62:865-75 pubmed
    X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity...
  17. Hemara Wahanui A, Berjukow S, Hope C, Dearden P, Wu S, Wilson Wheeler J, et al. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci U S A. 2005;102:7553-8 pubmed
    ..4 channel and various mutations in CACNA1F cause X-linked incomplete congenital stationary night blindness (CSNB2). The molecular mechanism of the pathology underlying the CSNB2 phenotype remains to be established...
  18. Lodha N, Bonfield S, Orton N, Doering C, McRory J, Mema S, et al. Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. Adv Exp Med Biol. 2010;664:549-58 pubmed publisher
    ..4 subunit of a voltage-gated L-type calcium channel, cause X-linked incomplete congenital stationary night blindness (CSNB2), a condition of defective retinal neurotransmission which results in night blindness, reduced visual ..
  19. Striessnig J, Bolz H, Koschak A. Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels. Pflugers Arch. 2010;460:361-74 pubmed publisher
    ..1 alpha1), incomplete congenital stationary night blindness (CSNB2; Cav1.4 alpha1), and Timothy syndrome (Cav1.2 alpha1; reviewed separately in this issue). Cav1...
  20. Khan N, Kondo M, Hiriyanna K, Jamison J, Bush R, Sieving P. Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. J Neurophysiol. 2005;93:481-92 pubmed
    Retinal on-pathway dysfunction is implicated in human complete-type congenital stationary night blindness (CSNB1), a Mendelian genetic condition that results from mutations in the NYX gene encoding the protein nyctalopin...
  21. Danby F. Night blindness, vitamin A deficiency, and isotretinoin psychotoxicity. Dermatol Online J. 2003;9:30 pubmed
  22. Sethi S, Ludwig M, Kabra M, Hari P, Bagga A. Vitamin A responsive night blindness in Dent's disease. Pediatr Nephrol. 2009;24:1765-70 pubmed publisher
    ..at an early age (1-4 years), with polyuria, polydipsia, salt craving, recurrent vitamin A-responsive night blindness, hypophosphataemic rickets, hypercalciuria and low molecular weight proteinuria...
  23. Moussaif M, Rubin W, Kerov V, Reh R, Chen D, Lem J, et al. Phototransduction in a transgenic mouse model of Nougaret night blindness. J Neurosci. 2006;26:6863-72 pubmed
    The Nougaret form of dominant stationary night blindness is linked to a G38D mutation in the rod transducin-alpha subunit (Talpha)...
  24. Wycisk K, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, et al. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006;79:973-7 pubmed
    ..We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C-->A) in CACNA2D4...
  25. Gonzalez Fernandez F, Kurz D, Bao Y, Newman S, Conway B, Young J, et al. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis. 1999;5:41 pubmed
    ..To elucidate the molecular defect we considered the genes for interphotoreceptor retinoid-binding protein (RBP3) and 11-cis retinol dehydrogenase (RDH5) as candidates for this disease...
  26. Sato M, Oshika T, Kaji Y, Nose H. A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. Ophthalmic Res. 2004;36:43-50 pubmed
    ..The homozygous Gly107Arg mutation in the RDH5 gene described in this paper has not previously been described, though compound heterozygous mutations (Gly107Arg and Leu310GluVal) in the RDH5 gene have previously been reported...
  27. Pieh C, Simonsz Toth B, Gottlob I. Nystagmus characteristics in congenital stationary night blindness (CSNB). Br J Ophthalmol. 2008;92:236-40 pubmed publisher
    To analyse nystagmus characteristics in patients with congenital stationary night blindness (CSNB) for differentiation from other forms of early childhood nystagmus.
  28. Boycott K, Pearce W, Bech Hansen N. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol. 2000;35:204-13 pubmed
    Incomplete X-linked congenital stationary night blindness (CSNB) is a clinically variable condition that has been shown to be caused by mutations in the calcium-channel CACNA1F gene...
  29. Bergen A, ten Brink J, Riemslag F, Schuurman E, Meire F, Tijmes N, et al. Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. J Med Genet. 1996;33:869-72 pubmed
    X linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterised by decreased visual acuity and disturbance of night vision...
  30. Ramon E, Del Valle L, Garriga P. Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile. J Biol Chem. 2003;278:6427-32 pubmed
    ..occurring point mutations in the opsin gene cause the retinal diseases retinitis pigmentosa and congenital night blindness. Although these diseases involve similar mutations in very close locations in rhodopsin, their progression is ..
  31. Peloquin J, Rehak R, Doering C, McRory J. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. Neuroscience. 2007;150:335-45 pubmed
    Congenital stationary night blindess-2 (incomplete congenital stationary night blindness (iCSNB) or CSNB-2) is a nonprogressive, X-linked retinal disease which can lead to clinical symptoms such as myopia, hyperopia, nystagmus, ..
  32. Morgans C, Brown R, Duvoisin R. TRPM1: the endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells. Bioessays. 2010;32:609-14 pubmed publisher
    ..the mGluR6 signal transduction pathway, mutations in TRPM1 would be expected to cause congenital stationary night blindness (CSNB), and several such mutations have already been identified in CSNB families...
  33. Khani S, Nielsen L, Vogt T. Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. Proc Natl Acad Sci U S A. 1998;95:2824-7 pubmed
    ..mutations in the RK locus have been associated with Oguchi disease, an autosomal recessive form of stationary night blindness in man characterized in part by delayed photoreceptor recovery [Yamamoto, S. , Sippel, K. C., Berson, E. L...
  34. Morgans C, Gaughwin P, Maleszka R. Expression of the alpha1F calcium channel subunit by photoreceptors in the rat retina. Mol Vis. 2001;7:202-9 pubmed
    ..Mutations in this gene cause incomplete X-linked congenital stationary night blindness (CSNB2)...
  35. Abramowicz M, Ribai P, Cordonnier M. Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis. Am J Med Genet A. 2005;132A:76-9 pubmed
    Congenital stationary night blindness (CSNB) is a group of rare, non-progressive conditions of the retina characterized by abnormal rod function causing impaired night vision...
  36. Strom T, Nyakatura G, Apfelstedt Sylla E, Hellebrand H, Lorenz B, Weber B, et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet. 1998;19:260-3 pubmed
    The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23 between markers DXS722 and DXS255...
  37. Zeitz C, Scherthan H, Freier S, Feil S, Suckow V, Schweiger S, et al. NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Invest Ophthalmol Vis Sci. 2003;44:4184-91 pubmed
    The complete type of X-linked congenital stationary night blindness (CSNB1) in human and mouse is caused by mutations in the NYX gene...
  38. Usui T, Ichibe M, Ueki S, Takagi M, Hasegawa S, Abe H, et al. Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease. Am J Ophthalmol. 2000;130:359-61 pubmed
    ..To elucidate the origin of the abnormal fundus reflex in Oguchi disease...
  39. Jacobson S, Cideciyan A, Regunath G, Rodriguez F, Vandenburgh K, Sheffield V, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet. 1995;11:27-32 pubmed
    ..In a SFD family with a novel TIMP3 point mutation, we tested a hypothesis that their night blindness is due to a chronic deprivation of vitamin A at the level of the photoreceptors caused by a thickened ..
  40. Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci. 2000;41:3925-32 pubmed
  41. Hotta K, Nakamura M, Kondo M, Ito S, Terasaki H, Miyake Y, et al. Macular dystrophy in a Japanese family with fundus albipunctatus. Am J Ophthalmol. 2003;135:917-9 pubmed
    ..To report a Japanese family with fundus albipunctatus and macular dystrophy associated with a mutation in the 11-cis retinol dehydrogenase (RDH5) gene...
  42. Nakamura M, Sanuki R, Yasuma T, Onishi A, Nishiguchi K, Koike C, et al. TRPM1 mutations are associated with the complete form of congenital stationary night blindness. Mol Vis. 2010;16:425-37 pubmed
    To identify human transient receptor potential cation channel, subfamily M, member 1 (TRPM1) gene mutations in patients with congenital stationary night blindness (CSNB).
  43. Maaswinkel H, Mason B, Li L. ENU-induced late-onset night blindness associated with rod photoreceptor cell degeneration in zebrafish. Mech Ageing Dev. 2003;124:1065-71 pubmed
    We describe a dominant mutation, night blindness d (nbd), that causes late-onset rod photoreceptor cell degeneration in zebrafish. The mutation was induced by treating male zebrafish with N-ethyl-N-nitrosourea (ENU)...
  44. Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, et al. Mutations in NYX of individuals with high myopia, but without night blindness. Mol Vis. 2007;13:330-6 pubmed
    ..4 are responsible for a complete form of congenital stationary night blindness (CSNB1). High myopia is usually observed in patients with CSNB1...
  45. Hayashi T, Gekka T, Takeuchi T, Goto Omoto S, Kitahara K. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. Ophthalmology. 2007;114:134-41 pubmed
    The only mutations reported to date in Japanese patients with Oguchi disease, a rare form of stationary night blindness with autosomal recessive transmission, have been in the SAG (arrestin) gene...
  46. van Genderen M, Bijveld M, Claassen Y, Florijn R, Pearring J, Meire F, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009;85:730-6 pubmed publisher
    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impaired night vision and variable decreased visual acuity...
  47. Rüther K, Janssen B, Kellner U, Janssen J, Bohne M, Reimann J, et al. [Clinical and genetic findings in a patient with fundus albipunctatus]. Ophthalmologe. 2004;101:177-85 pubmed
    ..She was screened for mutations in exons 2-5 and exon/intron boundaries of the 11- cis retinol dehydrogenase gene by direct sequencing...
  48. Mochizuki K, Murase H, Imose M, Kawakami H, Sawada A. Improvement of scotopic electroretinograms and night blindness with recovery of serum zinc levels. Jpn J Ophthalmol. 2006;50:532-536 pubmed publisher
    We sought to determine the cause of reduced scotopic and photopic electroretinograms (ERGs) and night blindness in a 46-year-old man with liver dysfunction but no history of alcoholism.
  49. Pusch C, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, et al. 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. 2000;26:324-7 pubmed
    X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and reduced visual acuity...
  50. Naz S, Ali S, Riazuddin S, Farooq T, Butt N, Zafar A, et al. Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Br J Ophthalmol. 2011;95:1019-24 pubmed publisher
    ..These results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families. ..
  51. Kuroiwa S, Kikuchi T, Yoshimura N. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Am J Ophthalmol. 2000;130:672-5 pubmed
    ..To report a novel compound heterozygous mutation in the 11-cis retinol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus...
  52. Pesch K, Zeitz C, Fries J, Münscher S, Pusch C, Kohler K, et al. Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Invest Ophthalmol Vis Sci. 2003;44:2260-6 pubmed
    ..repeat (LRR) protein superfamily, are responsible for the complete form of X-linked congenital stationary night blindness (CSNB1)...
  53. Bech Hansen N, Boycott K, Gratton K, Ross D, Field L, Pearce W. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet. 1998;103:124-30 pubmed
    Congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by night blindness, nystagmus, myopia, a variable decrease in visual acuity, an abnormal electroretinographic response, and a disturbance in ..