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Blue-cone monochromacy

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Corrective visual aides and personalized vision therapy provided by Low Vision Specialists may help patients correct glare and optimize their remaining visual acuity. Tinted lenses for photophobia allow for greater visual comfort. A magenta (mixture of red and blue) tint allows for best visual acuity
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Originating from a recent duplication event, the two opsins are highly homologous (very similar), having only 19 dimorphic sites (amino acids that differ), and are therefore 96% similar. Furthermore, only 7 of these dimorphic sites lead to a functional difference between the genes, i.e. that tune the
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Data from the BCM International Patient Registry shows that about 35% of Blue cone monochromacy stems from this 2-step process, where both genes are each affected by one of the above mutations. The remaining 55% of Blue cone monochromats are caused by a deletion of the LCR. In the absence of LCR,
698:...could never do more than guess the name of any color; yet he could distinguish white from black, or black from any light or bright color...He had 2 brothers in the same circumstances as to sight; and 2 brothers and sisters who, as well as his parents, had nothing of this defect. 720:, and at the same time, several studies demonstrated that Blue cone monochromats retain some Blue yellow color vision. A significant discovery was announced in 1989 (and 1993) by Nathans et al. who identified the genes which cause Blue cone monochromacy. 802:
Nathans, J; Maumenee, I H; Zrenner, E; Sadowski, B; Sharpe, L T; Lewis, R A; Hansen, E; Rosenberg, T; Schwartz, M; Heckenlively, J R; Trabulsi, E; Klingaman, R; Bech-Hansen, N T; LaRoche, G R; Pagon, R A; Murphey, W H; Weleber, R G (1993).
670:– into the cone cells. In 2015, a team at the University of Pennsylvania evaluated possible outcome measures of BCM gene therapy. Since 2011, several studies have performed gene therapy for BCM on mouse and rat models. 847:
Gardner, J C; Webb, T R; Kanuga, N; Robson, A G; Holder, G E; Stockman, A; Ripamonti, C; Ebenezer, N D; Ogun, O; Devery, S; Wright, G A; Maher, E R; Cheetham, M E; Moore, A T; Michaelides, M; Hardcastle, A J (2010).
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Nathans, J; Davenport, C M; Maumenee, I H; Lewis, R A; Hejtmancik, J F; Litt, M; Lovrien, E; Weleber, R; Bachynski, B; Zwas, F; Klingaman, R; Fishman, G (1989). "Molecular genetics of human blue cone monochromacy".
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deviated from other forms of achromatopsia. While other forms (ACHM) follow autosomal inheritance, BCM is X-Linked. Once the molecular biological basis of BCM was understood, the more descriptive term
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In 1942, Sloan first distinguished typical and atypical achromatopsia, differentiated mainly on the inheritance patterns. In 1953, Weale theorized that the atypical achromatopsia must stem from
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Luo, X; Cideciyan, AV; Iannaccone, A; Roman, A J; Ditta, L C; Jennings, B J; Yatsenko, S; Sheplock, R; Sumaroka, A; Swider, M; Schwartz, S B; Wissinger, B; Kohl, S; Jacobson, S G (2015).
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Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS (July 1992). "Defective colour vision associated with a missense mutation in the human green visual pigment gene".
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genotype: inactivation through homologous recombination that ends with Exon 3 of the hybrid opsin gene containing the following amino acids in the positions indicated: 153
615:, which measures the electrical response of photoreceptors to a visual stimulus of known wavelength. This can demonstrate the loss of function of the LWS and MWS cones. 2940: 1158:
Gardner, Jessica C.; Michaelides, Michel; Holder, Graham E.; Kanuga, Naheed; Webb, Tom R.; Mollon, John D.; Moore, Anthony T.; Hardcastle, Alison J. (1 May 2009).
2337: 3009: 2935: 3500: 1810: 3495: 1949: 2957: 2952: 2777: 716:, but estimated a prevalence of only 1 in 100 million. In the early 1960s, the inheritance of atypical achromatopsia led to a name change to 1551:
Zhang, Y; Deng, WT; Du, W; Zhu, P; Li, J; Xu, F; Sun, J; Gerstner, C D; Baehr, W; Boye Sanford, L; Zhao, C; Hauswirth, W W; Pang, J (2017).
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treatments which are currently being evaluated for safety and efficacy. Gene therapy is a general treatment for genetic disorders; it uses
2930: 904:"Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals" 2925: 2812: 2379: 209:. Blue cone monochromacy is a severe condition in which the cones sensitive to red or green light are missing or defective, and only 2540: 2680: 1457:
Berson EL, Sandberg MA, Rosner B, Sullivan PL (June 1983). "Color plates to help identify patients with blue cone monochromatism".
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Blackwell, H R; Blackwell, O M (1961). "Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia".
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Children 2 months and older can be identified as possible Blue cone monochromats from observing an aversion to light and/or
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Another disease of the retina that is associated with the position Xq28 is Bornholm Eye Disease (BED). The point mutation
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Xq28, at the end of the q arm of the X chromosome. The genes in the cluster are summarized in the following table:
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Reitner, A; Sharpe, L T; Zrenner, E (1991). "Is colour vision possible with only rods and Blue sensitive cones?".
3126: 2920: 2767: 2612: 2359: 666:). It may be possible to restore color vision by adding missing opsin genes – or a functional copy of the entire 272:
of Blue cone monochromats is severely impaired. However, interaction of the blue cones and rod photoreceptors in
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Michaelides, M; Johnson, S; Simunovic, M P; Bradshaw, K; Holder, G; Mollon, J D; Moore, A T; Hunt, D M (2005).
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Ladekjaer-Mikkelsen, A S; Rosenberg, T; Jørgensen, A L (1996). "A new mechanism in blue cone monochromatism".
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BCM affects approximately 1/100,000 individuals. The disease affects males much more than females due to its
3136: 2890: 2690: 2210: 2203: 1796: 694:. The first detailed description of achromatopsia was given in 1777, where the subject of the description: 3405: 3375: 3310: 3305: 3032: 2310: 2175: 1935: 597: 85: 3505: 3490: 3348: 3024: 1397:
Ayyagari, R; Kakuk, L E; Bingham, E L; Szczesny, J J; Kemp, J; Toda, Y; Felius, J; Sieving, P A (2000).
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since it protects the rods from saturation while allowing the blue cones to be maximally stimulated.
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the genetic causes of protanopia and deuteranopia. These include (affecting either opsin gene):
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Since BCM is caused by non-functional M- and L-cones, it can result from the intersection of
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Sloan, LL; Newhall, SM (1942). "Comparison of cases of atypical and typical achromatopsia".
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BCM symptoms are usually stationary, but some studies show evidence of disease progression.
1494:"Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials" 3235: 3199: 3163: 2782: 2607: 2594: 2528: 2485: 2403: 2215: 2147: 2067: 2052: 1872: 202: 176: 130: 1759: 1293: 201:
MWS and LWS cones are most responsible for visual acuity as they are concentrated in the
1568: 1509: 1399:"Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy" 956: 757: 3465: 3317: 3262: 3105: 2873: 2802: 2584: 2554: 2500: 2454: 2325: 2198: 2132: 2122: 1696: 1671: 1585: 1552: 1528: 1493: 1371: 1346: 1184: 1159: 1077: 1052: 1023: 998: 874: 849: 821: 804: 577: 273: 1656: 17: 3484: 3385: 3240: 3180: 2897: 2845: 2792: 2722: 2631: 2518: 2495: 2423: 2332: 2137: 2042: 1909: 1904: 1877: 1831: 1823: 1746:
Spivey, B E (1965). "The X-linked recessive inheritance of atypical monochromatism".
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Alpern, M; Falls, H F; Lee, G B (1960). "The enigma of typical total monochromacy".
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through reconstructing the family history to establish a x-linked mode of heredity
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Huddart, J (1777). "An account of persons who could not distinguish colours".
545: 478: 277: 1175: 850:"X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins" 3421: 3395: 3269: 3215: 3203: 3088: 3083: 3068: 3064: 2602: 2300: 2277: 2090: 2037: 2032: 2009: 1927: 765: 663: 659: 650:
There is no cure for Blue cone monochromacy. However, there are prospective
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nature, while females usually remain unaffected carriers of the BCM trait.
1478: 1417: 1362: 1271: 1263: 1228: 1032: 972: 830: 773: 3460: 3225: 2759: 2562: 2193: 1426: 306: 218: 214: 123: 445:. In comparison, these opsin genes are only 40% homologous (similar) to 210: 3287: 3230: 2772: 2579: 2510: 2480: 2470: 2077: 1220: 1160:"Blue cone monochromacy: Causative mutations and associated phenotypes" 557: 549: 541: 690:
Prior to the 1960s, Blue cone monochromacy was treated as a subset of
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MWS (middle wave sensitive) cones are most sensitive to green light.
368: 297:, it was historically treated as a subset of achromatopsia, called 3362: 581: 500:
point mutations that lead to non-functional (inactivated) opsins:
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SWS (short wave sensitive) cones are most sensitive to blue light.
305:. Both of these names differentiated BCM specifically by how its 2442: 2004: 531: 417: 392: 363: 343: 338: 191:
LWS (long wave sensitive) cones are most sensitive to red light.
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region of the retina, which constitutes the very center of the
1102:"Molecular Genetics of Color Vision and Color Vision Defects" 485:(no functional M-cones). Therefore the genetic causes of BCM 604:. The differential diagnosis can be achieved in a few ways: 997:
Alpern M, Lee GB, Maaseidvaag F, Miller SS (January 1971).
1347:"Clinical utility gene card for: blue cone monochromatism" 293:
Because Blue cone monochromacy shares many symptoms with
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neither of the following two opsin genes are expressed.
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responsible for BCM comprises 3 genes and is located at
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An account of persons who could not distinguish colours
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genes thereafter, and ensures that only one of the two
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due to the absence of functional red (L) and green (M)
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poor ability or inability to distinguish colours, poor
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disease and almost exclusively affects XY karyotypes.
805:"Genetic heterogeneity among blue cone monochromats" 384:(LWS or MWS) is expressed exclusively in each cone. 3414: 3361: 3326: 3286: 3198: 3149: 3114: 3055: 3023: 2991: 2970: 2911: 2856: 2752: 2593: 2553: 2509: 2450: 2441: 2291: 2268: 2259: 2184: 2146: 2113: 2076: 1997: 1988: 1863: 1830: 1053:"The genetics of normal and defective color vision" 105: 97: 84: 76: 55: 45: 37: 32: 2936:arteritic anterior (AAION or arteritic AION) 376:Acts as a promoter of the expression of the two 240:Poor ability or inability to distinguish colours 696: 469:). OPN1SW and rhodopsin are unaffected in BCM. 183:. The cones are categorized according to their 1943: 1804: 897: 895: 893: 842: 840: 8: 3010:Chronic progressive external ophthalmoplegia 1046: 1044: 1042: 797: 795: 793: 791: 738: 736: 734: 732: 2338:Thygeson's superficial punctate keratopathy 1294:"Patient Registry – Blue Cone Monochromacy" 1153: 1151: 1149: 1147: 1145: 1143: 1141: 1139: 1137: 999:"Colour vision in blue cone 'monochromacy'" 175:in the retina that are responsible for the 3444: 3208: 2997: 2988: 2866: 2853: 2840: 2447: 2265: 2256: 2243: 1994: 1985: 1972: 1950: 1936: 1928: 1811: 1797: 1789: 29: 1695: 1584: 1527: 1517: 1425: 1370: 1183: 1117: 1076: 1022: 919: 873: 820: 493:deletions of the opsin genes, often from 1392: 1390: 992: 990: 658:to carry typical genes into cells (e.g. 331: 229:A variety of symptoms characterize BCM: 1340: 1338: 728: 7: 2818:Familial exudative vitreoretinopathy 1784:OMIM page for Blue cone monochromacy 1760:10.1001/archopht.1965.00970040329007 276:(twilight) may enable some level of 2941:non-arteritic anterior (NAION) 2778:Leber's hereditary optic neuropathy 313:became dominant in the literature. 2813:Persistent tunica vasculosa lentis 237:- ranging between 20/60 and 20/200 25: 3501:Visual disturbances and blindness 2541:Polypoidal choroidal vasculopathy 1645:American Journal of Ophthalmology 303:atypical incomplete achromatopsia 217:which are responsible for night ( 2646:Central retinal artery occlusion 646:Gene therapy for color blindness 2651:Branch retinal artery occlusion 2380:Terrien's marginal degeneration 250:) - sensitivity to bright light 3496:Genetic diseases and disorders 2681:Bietti's crystalline dystrophy 2641:Central retinal vein occlusion 2370:Pellucid marginal degeneration 1688:10.1113/jphysiol.1953.sp004964 1015:10.1113/jphysiol.1971.sp009318 256:- an involuntary eye movement. 1: 2734:Vitelliform macular dystrophy 2625:Posterior vitreous detachment 2491:Persistent pupillary membrane 1657:10.1016/S0002-9394(42)90594-4 1100:Neitz, Maureen (1 May 2000). 703:J. Huddart, "Article Title", 530:intragenic deletion of whole 3221:Leber's congenital amaurosis 3132:Internuclear ophthalmoplegia 2823:Vogt-Koyanagi-Harada disease 2808:Persistent fetal vasculature 2739:Leber's congenital amaurosis 1733:10.1016/0042-6989(61)90022-0 1519:10.1371/journal.pone.0125700 1471:10.1016/0002-9394(83)90058-2 1345:Kohl, S; Hamel, C P (2011). 1321:10.1016/0002-9394(60)90353-6 1069:10.1016/j.visres.2010.12.002 481:(no functional L-cones) and 213:sensitive to blue light and 2020:Meibomian gland dysfunction 1051:Neitz, J; Neitz, M (2011). 495:nonhomologous recombination 3522: 2744:Birdshot chorioretinopathy 2718:Central serous retinopathy 2536:Focal choroidal excavation 2409:Corneal neovascularization 2226:Subconjunctival hemorrhage 1577:10.1038/s41598-017-06982-7 1119:10.1001/archopht.118.5.691 866:10.1016/j.ajhg.2010.05.019 643: 3456: 3443: 3211: 3127:Convergence insufficiency 3000: 2869: 2852: 2839: 2768:Primary juvenile glaucoma 2613:Cytomegalovirus retinitis 2255: 2242: 2028: 1984: 1971: 1962:Diseases of the human eye 1676:The Journal of Physiology 1106:Archives of Ophthalmology 264:Poor Color Discrimination 221:) vision are functional. 2637:Ocular ischemic syndrome 430:Encodes the MWS (green) 156:in the retina. BCM is a 3137:One and a half syndrome 2891:Foster Kennedy syndrome 766:10.1126/science.2788922 613:electroretinogram (ERG) 3376:Argyll Robertson pupil 2176:Periorbital cellulitis 1622:10.1098/rstl.1777.0015 921:10.1038/sj.eye.6701391 718:x-linked achromatopsia 710: 598:differential diagnosis 405:Encodes the LWS (red) 311:Blue cone monochromacy 299:x-linked achromatopsia 177:photopic visual system 116:Blue cone monochromacy 86:Differential diagnosis 41:X-linked achromatopsia 33:Blue cone monochromacy 18:Blue cone monochromacy 3349:Scintillating scotoma 3015:Kearns–Sayre syndrome 2958:Toxic and nutritional 2931:posterior (PION) 2414:Kayser–Fleischer ring 1672:"Cone Monochromatism" 1610:Philos. Trans. R. Soc 1418:10.1007/s004390000338 1363:10.1038/ejhg.2010.232 1264:10.1007/s004390050229 580:when present on both 3122:Conjugate gaze palsy 2993:Paralytic strabismus 2926:anterior (AION) 2708:Retinitis pigmentosa 2703:Macular degeneration 2476:Intermediate uveitis 2392:Keratoconjunctivitis 1850:Intraocular pressure 443:spectral sensitivity 359:Locus Control Region 185:spectral sensitivity 3427:Childhood blindness 3406:Parinaud's syndrome 2976:Extraocular muscles 2764:Ocular hypertension 2728:Epiretinal membrane 2713:Retinal haemorrhage 2568:Congenital cataract 1569:2017NatSR...7.6690Z 1510:2015PLoSO..1025700L 957:1991Natur.352..798R 758:1989Sci...245..831N 714:cone-monochromatism 307:inheritance pattern 154:photoreceptor cells 129:that causes severe 2953:Leber's hereditary 2620:Retinal detachment 2573:Childhood cataract 2385:Post-LASIK ectasia 2166:Orbital cellulitis 2115:Lacrimal apparatus 1670:Weale, RA (1953). 1557:Scientific Reports 1351:Eur. J. Hum. Genet 1221:10.1038/ng0792-251 680:recessive X-linked 449:(encoding the SWS 173:photoreceptor cell 158:recessive X-linked 135:poor visual acuity 3478: 3477: 3474: 3473: 3439: 3438: 3435: 3434: 3381:Marcus Gunn pupil 3357: 3356: 3278:Visual impairment 3145: 3144: 3051: 3050: 3038:Fourth-nerve (IV) 2966: 2965: 2903:Optic disc drusen 2835: 2834: 2831: 2830: 2549: 2548: 2437: 2436: 2343:Corneal dystrophy 2238: 2237: 2234: 2233: 2109: 2108: 1925: 1924: 1459:Am. J. Ophthalmol 1309:Am. J. Ophthalmol 951:(6338): 798–800. 854:Am. J. Hum. Genet 809:Am. J. Hum. Genet 752:(4920): 831–838. 620:color vision test 574:missense mutation 523:nonsense mutation 508:missense mutation 465:, and located on 438: 437: 113: 112: 27:Medical condition 16:(Redirected from 3513: 3445: 3209: 3200:Vision disorders 3159:Refractive error 3101:Brown's syndrome 3057:Other strabismus 3043:Sixth-nerve (VI) 3033:Oculomotor (III) 3005:Ophthalmoparesis 2998: 2989: 2980:Binocular vision 2913:Optic neuropathy 2879:optic papillitis 2867: 2854: 2841: 2730:(Macular pucker) 2448: 2429:Band keratopathy 2266: 2257: 2244: 2171:Orbital lymphoma 2058:Blepharophimosis 2048:Blepharochalasis 1995: 1986: 1973: 1952: 1945: 1938: 1929: 1890:Opponent process 1813: 1806: 1799: 1790: 1772: 1771: 1748:Arch. Ophthalmol 1743: 1737: 1736: 1716: 1710: 1709: 1699: 1667: 1661: 1660: 1640: 1634: 1633: 1605: 1599: 1598: 1588: 1548: 1542: 1541: 1531: 1521: 1489: 1483: 1482: 1454: 1448: 1447: 1429: 1403: 1394: 1385: 1384: 1374: 1342: 1333: 1332: 1304: 1298: 1297: 1290: 1284: 1283: 1247: 1241: 1240: 1204: 1198: 1197: 1187: 1164:Molecular Vision 1155: 1132: 1131: 1121: 1097: 1091: 1090: 1080: 1048: 1037: 1036: 1026: 994: 985: 984: 965:10.1038/352798a0 940: 934: 933: 923: 899: 888: 887: 877: 844: 835: 834: 824: 799: 786: 785: 740: 708: 332: 246:(and associated 171:are one kind of 30: 21: 3521: 3520: 3516: 3515: 3514: 3512: 3511: 3510: 3481: 3480: 3479: 3470: 3452: 3431: 3410: 3353: 3322: 3282: 3236:Color blindness 3202: 3194: 3141: 3115:Other binocular 3110: 3047: 3019: 2982: 2978: 2974: 2962: 2907: 2860: 2848: 2827: 2783:Ocular hypotony 2748: 2608:Chorioretinitis 2589: 2545: 2529:Chorioretinitis 2505: 2486:Rubeosis iridis 2464: 2433: 2404:Corneal opacity 2360:Corneal ectasia 2287: 2251: 2230: 2216:Pseudopterygium 2180: 2142: 2105: 2072: 2068:Ankyloblepharon 2024: 1980: 1967: 1966: 1956: 1926: 1921: 1873:Color blindness 1859: 1826: 1817: 1780: 1775: 1745: 1744: 1740: 1727:(1–2): 62–107. 1718: 1717: 1713: 1669: 1668: 1664: 1642: 1641: 1637: 1607: 1606: 1602: 1550: 1549: 1545: 1504:(4): e0125700. 1491: 1490: 1486: 1456: 1455: 1451: 1401: 1396: 1395: 1388: 1344: 1343: 1336: 1315:(5): 996–1012. 1306: 1305: 1301: 1292: 1291: 1287: 1249: 1248: 1244: 1206: 1205: 1201: 1157: 1156: 1135: 1099: 1098: 1094: 1050: 1049: 1040: 996: 995: 988: 942: 941: 937: 901: 900: 891: 846: 845: 838: 815:(5): 987–1000. 801: 800: 789: 742: 741: 730: 726: 709: 702: 688: 676: 648: 642: 633: 590: 475: 453:and located on 319: 291: 286: 266: 227: 203:fovea centralis 166: 131:color blindness 28: 23: 22: 15: 12: 11: 5: 3519: 3517: 3509: 3508: 3503: 3498: 3493: 3483: 3482: 3476: 3475: 3472: 3471: 3469: 3468: 3466:Onchocerciasis 3463: 3457: 3454: 3453: 3448: 3441: 3440: 3437: 3436: 3433: 3432: 3430: 3429: 3424: 3418: 3416: 3412: 3411: 3409: 3408: 3403: 3398: 3393: 3388: 3383: 3378: 3373: 3367: 3365: 3359: 3358: 3355: 3354: 3352: 3351: 3346: 3341: 3336: 3330: 3328: 3324: 3323: 3321: 3320: 3318:Quadrantanopia 3315: 3314: 3313: 3308: 3303: 3292: 3290: 3284: 3283: 3281: 3280: 3267: 3266: 3265: 3263:Oguchi disease 3255: 3254: 3253: 3248: 3243: 3233: 3228: 3223: 3218: 3212: 3206: 3196: 3195: 3193: 3192: 3187: 3178: 3173: 3172: 3171: 3166: 3155: 3153: 3147: 3146: 3143: 3142: 3140: 3139: 3134: 3129: 3124: 3118: 3116: 3112: 3111: 3109: 3108: 3106:Duane syndrome 3103: 3098: 3093: 3092: 3091: 3086: 3076: 3071: 3061: 3059: 3053: 3052: 3049: 3048: 3046: 3045: 3040: 3035: 3029: 3027: 3021: 3020: 3018: 3017: 3012: 3007: 3001: 2995: 2986: 2968: 2967: 2964: 2963: 2961: 2960: 2955: 2950: 2945: 2944: 2943: 2938: 2933: 2928: 2917: 2915: 2909: 2908: 2906: 2905: 2900: 2895: 2894: 2893: 2883: 2882: 2881: 2874:Optic neuritis 2870: 2864: 2850: 2849: 2844: 2837: 2836: 2833: 2832: 2829: 2828: 2826: 2825: 2820: 2815: 2810: 2805: 2803:Phthisis bulbi 2800: 2795: 2790: 2785: 2780: 2775: 2770: 2756: 2754: 2750: 2749: 2747: 2746: 2741: 2736: 2731: 2725: 2720: 2715: 2710: 2705: 2700: 2699: 2698: 2693: 2688: 2686:Coats' disease 2683: 2678: 2676:of prematurity 2673: 2668: 2663: 2653: 2648: 2643: 2634: 2629: 2628: 2627: 2617: 2616: 2615: 2610: 2599: 2597: 2591: 2590: 2588: 2587: 2585:Ectopia lentis 2582: 2577: 2576: 2575: 2570: 2559: 2557: 2551: 2550: 2547: 2546: 2544: 2543: 2538: 2533: 2532: 2531: 2521: 2515: 2513: 2507: 2506: 2504: 2503: 2498: 2493: 2488: 2483: 2478: 2473: 2467: 2465: 2463: 2462: 2457: 2451: 2445: 2443:Vascular tunic 2439: 2438: 2435: 2434: 2432: 2431: 2426: 2421: 2416: 2411: 2406: 2401: 2400: 2399: 2389: 2388: 2387: 2382: 2377: 2372: 2367: 2357: 2356: 2355: 2350: 2340: 2335: 2330: 2329: 2328: 2326:Photokeratitis 2323: 2318: 2313: 2308: 2297: 2295: 2289: 2288: 2286: 2285: 2280: 2274: 2272: 2263: 2253: 2252: 2247: 2240: 2239: 2236: 2235: 2232: 2231: 2229: 2228: 2223: 2218: 2213: 2208: 2207: 2206: 2199:Conjunctivitis 2196: 2190: 2188: 2182: 2181: 2179: 2178: 2173: 2168: 2163: 2158: 2152: 2150: 2144: 2143: 2141: 2140: 2135: 2133:Dacryocystitis 2130: 2125: 2123:Dacryoadenitis 2119: 2117: 2111: 2110: 2107: 2106: 2104: 2103: 2098: 2093: 2088: 2082: 2080: 2074: 2073: 2071: 2070: 2065: 2060: 2055: 2050: 2045: 2040: 2035: 2029: 2026: 2025: 2023: 2022: 2017: 2012: 2007: 2001: 1999: 1992: 1982: 1981: 1976: 1969: 1968: 1965: 1964: 1958: 1957: 1955: 1954: 1947: 1940: 1932: 1923: 1922: 1920: 1919: 1918: 1917: 1912: 1907: 1902: 1897: 1887: 1886: 1885: 1883:Köllner's rule 1880: 1869: 1867: 1861: 1860: 1858: 1857: 1852: 1847: 1842: 1836: 1834: 1828: 1827: 1818: 1816: 1815: 1808: 1801: 1793: 1787: 1786: 1779: 1778:External links 1776: 1774: 1773: 1754:(3): 327–333. 1738: 1711: 1682:(3): 548–569. 1662: 1651:(8): 945–961. 1635: 1600: 1563:(6690): 6690. 1543: 1484: 1449: 1386: 1334: 1299: 1285: 1258:(4): 403–408. 1242: 1199: 1133: 1112:(5): 691–700. 1092: 1063:(7): 633–651. 1038: 986: 935: 889: 836: 787: 727: 725: 722: 700: 687: 684: 675: 672: 644:Main article: 641: 638: 632: 629: 628: 627: 616: 609: 589: 586: 578:cone dystrophy 562: 561: 535: 528: 527: 526: 516: 511: 498: 474: 471: 436: 435: 428: 425: 420: 415: 411: 410: 403: 400: 395: 390: 386: 385: 374: 371: 366: 361: 355: 354: 351: 346: 341: 336: 318: 315: 290: 287: 285: 282: 274:mesopic vision 265: 262: 258: 257: 251: 241: 238: 226: 223: 199: 198: 195: 192: 165: 162: 111: 110: 107: 103: 102: 99: 95: 94: 88: 82: 81: 78: 74: 73: 59: 53: 52: 49: 43: 42: 39: 35: 34: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 3518: 3507: 3504: 3502: 3499: 3497: 3494: 3492: 3489: 3488: 3486: 3467: 3464: 3462: 3459: 3458: 3455: 3451: 3446: 3442: 3428: 3425: 3423: 3420: 3419: 3417: 3413: 3407: 3404: 3402: 3399: 3397: 3394: 3392: 3389: 3387: 3386:Adie syndrome 3384: 3382: 3379: 3377: 3374: 3372: 3369: 3368: 3366: 3364: 3360: 3350: 3347: 3345: 3342: 3340: 3337: 3335: 3332: 3331: 3329: 3325: 3319: 3316: 3312: 3309: 3307: 3304: 3302: 3299: 3298: 3297: 3294: 3293: 3291: 3289: 3285: 3279: 3275: 3271: 3268: 3264: 3261: 3260: 3259: 3256: 3252: 3249: 3247: 3244: 3242: 3241:Achromatopsia 3239: 3238: 3237: 3234: 3232: 3229: 3227: 3224: 3222: 3219: 3217: 3214: 3213: 3210: 3207: 3205: 3201: 3197: 3191: 3188: 3186: 3182: 3181:Anisometropia 3179: 3177: 3174: 3170: 3167: 3165: 3162: 3161: 3160: 3157: 3156: 3154: 3152: 3148: 3138: 3135: 3133: 3130: 3128: 3125: 3123: 3120: 3119: 3117: 3113: 3107: 3104: 3102: 3099: 3097: 3094: 3090: 3087: 3085: 3082: 3081: 3080: 3077: 3075: 3072: 3070: 3066: 3063: 3062: 3060: 3058: 3054: 3044: 3041: 3039: 3036: 3034: 3031: 3030: 3028: 3026: 3022: 3016: 3013: 3011: 3008: 3006: 3003: 3002: 2999: 2996: 2994: 2990: 2987: 2985: 2984:Accommodation 2981: 2977: 2973: 2969: 2959: 2956: 2954: 2951: 2949: 2946: 2942: 2939: 2937: 2934: 2932: 2929: 2927: 2924: 2923: 2922: 2919: 2918: 2916: 2914: 2910: 2904: 2901: 2899: 2898:Optic atrophy 2896: 2892: 2889: 2888: 2887: 2884: 2880: 2877: 2876: 2875: 2872: 2871: 2868: 2865: 2863: 2859: 2855: 2851: 2847: 2842: 2838: 2824: 2821: 2819: 2816: 2814: 2811: 2809: 2806: 2804: 2801: 2799: 2798:Keratomycosis 2796: 2794: 2793:Globe rupture 2791: 2789: 2786: 2784: 2781: 2779: 2776: 2774: 2771: 2769: 2765: 2761: 2758: 2757: 2755: 2751: 2745: 2742: 2740: 2737: 2735: 2732: 2729: 2726: 2724: 2723:Macular edema 2721: 2719: 2716: 2714: 2711: 2709: 2706: 2704: 2701: 2697: 2694: 2692: 2689: 2687: 2684: 2682: 2679: 2677: 2674: 2672: 2669: 2667: 2664: 2662: 2659: 2658: 2657: 2654: 2652: 2649: 2647: 2644: 2642: 2638: 2635: 2633: 2632:Retinoschisis 2630: 2626: 2623: 2622: 2621: 2618: 2614: 2611: 2609: 2606: 2605: 2604: 2601: 2600: 2598: 2596: 2592: 2586: 2583: 2581: 2578: 2574: 2571: 2569: 2566: 2565: 2564: 2561: 2560: 2558: 2556: 2552: 2542: 2539: 2537: 2534: 2530: 2527: 2526: 2525: 2522: 2520: 2519:Choroideremia 2517: 2516: 2514: 2512: 2508: 2502: 2499: 2497: 2496:Iridodialysis 2494: 2492: 2489: 2487: 2484: 2482: 2479: 2477: 2474: 2472: 2469: 2468: 2466: 2461: 2458: 2456: 2453: 2452: 2449: 2446: 2444: 2440: 2430: 2427: 2425: 2424:Arcus senilis 2422: 2420: 2419:Haab's striae 2417: 2415: 2412: 2410: 2407: 2405: 2402: 2398: 2395: 2394: 2393: 2390: 2386: 2383: 2381: 2378: 2376: 2373: 2371: 2368: 2366: 2363: 2362: 2361: 2358: 2354: 2351: 2349: 2346: 2345: 2344: 2341: 2339: 2336: 2334: 2333:Corneal ulcer 2331: 2327: 2324: 2322: 2319: 2317: 2314: 2312: 2311:acanthamoebic 2309: 2307: 2304: 2303: 2302: 2299: 2298: 2296: 2294: 2290: 2284: 2281: 2279: 2276: 2275: 2273: 2271: 2267: 2264: 2262: 2261:Fibrous tunic 2258: 2254: 2250: 2245: 2241: 2227: 2224: 2222: 2219: 2217: 2214: 2212: 2209: 2205: 2202: 2201: 2200: 2197: 2195: 2192: 2191: 2189: 2187: 2183: 2177: 2174: 2172: 2169: 2167: 2164: 2162: 2159: 2157: 2154: 2153: 2151: 2149: 2145: 2139: 2138:Xerophthalmia 2136: 2134: 2131: 2129: 2126: 2124: 2121: 2120: 2118: 2116: 2112: 2102: 2099: 2097: 2094: 2092: 2089: 2087: 2084: 2083: 2081: 2079: 2075: 2069: 2066: 2064: 2061: 2059: 2056: 2054: 2051: 2049: 2046: 2044: 2043:Lagophthalmos 2041: 2039: 2036: 2034: 2031: 2030: 2027: 2021: 2018: 2016: 2013: 2011: 2008: 2006: 2003: 2002: 2000: 1996: 1993: 1991: 1987: 1983: 1979: 1974: 1970: 1963: 1960: 1959: 1953: 1948: 1946: 1941: 1939: 1934: 1933: 1930: 1916: 1913: 1911: 1910:Tetrachromacy 1908: 1906: 1905:Pentachromacy 1903: 1901: 1898: 1896: 1893: 1892: 1891: 1888: 1884: 1881: 1879: 1878:Achromatopsia 1876: 1875: 1874: 1871: 1870: 1868: 1866: 1862: 1856: 1853: 1851: 1848: 1846: 1843: 1841: 1840:Accommodation 1838: 1837: 1835: 1833: 1829: 1825: 1824:visual system 1821: 1814: 1809: 1807: 1802: 1800: 1795: 1794: 1791: 1785: 1782: 1781: 1777: 1769: 1765: 1761: 1757: 1753: 1749: 1742: 1739: 1734: 1730: 1726: 1722: 1715: 1712: 1707: 1703: 1698: 1693: 1689: 1685: 1681: 1677: 1673: 1666: 1663: 1658: 1654: 1650: 1646: 1639: 1636: 1631: 1627: 1623: 1619: 1615: 1611: 1604: 1601: 1596: 1592: 1587: 1582: 1578: 1574: 1570: 1566: 1562: 1558: 1554: 1547: 1544: 1539: 1535: 1530: 1525: 1520: 1515: 1511: 1507: 1503: 1499: 1495: 1488: 1485: 1480: 1476: 1472: 1468: 1464: 1460: 1453: 1450: 1445: 1441: 1437: 1433: 1428: 1427:2027.42/42266 1423: 1419: 1415: 1411: 1407: 1400: 1393: 1391: 1387: 1382: 1378: 1373: 1368: 1364: 1360: 1356: 1352: 1348: 1341: 1339: 1335: 1330: 1326: 1322: 1318: 1314: 1310: 1303: 1300: 1295: 1289: 1286: 1281: 1277: 1273: 1269: 1265: 1261: 1257: 1253: 1246: 1243: 1238: 1234: 1230: 1226: 1222: 1218: 1214: 1210: 1203: 1200: 1195: 1191: 1186: 1181: 1177: 1173: 1169: 1165: 1161: 1154: 1152: 1150: 1148: 1146: 1144: 1142: 1140: 1138: 1134: 1129: 1125: 1120: 1115: 1111: 1107: 1103: 1096: 1093: 1088: 1084: 1079: 1074: 1070: 1066: 1062: 1058: 1054: 1047: 1045: 1043: 1039: 1034: 1030: 1025: 1020: 1016: 1012: 1009:(1): 211–33. 1008: 1004: 1000: 993: 991: 987: 982: 978: 974: 970: 966: 962: 958: 954: 950: 946: 939: 936: 931: 927: 922: 917: 913: 909: 905: 898: 896: 894: 890: 885: 881: 876: 871: 867: 863: 859: 855: 851: 843: 841: 837: 832: 828: 823: 818: 814: 810: 806: 798: 796: 794: 792: 788: 783: 779: 775: 771: 767: 763: 759: 755: 751: 747: 739: 737: 735: 733: 729: 723: 721: 719: 715: 706: 699: 695: 693: 692:achromatopsia 685: 683: 681: 673: 671: 669: 665: 661: 657: 656:viral vectors 653: 647: 639: 637: 630: 625: 621: 617: 614: 610: 607: 606: 605: 603: 602:achromatopsia 599: 595: 587: 585: 583: 579: 575: 571: 566: 559: 555: 551: 547: 543: 539: 536: 533: 529: 524: 520: 517: 515: 512: 509: 505: 502: 501: 499: 496: 492: 491: 490: 488: 484: 480: 472: 470: 468: 464: 460: 456: 452: 448: 444: 433: 429: 426: 424: 421: 419: 416: 413: 412: 408: 404: 401: 399: 396: 394: 391: 388: 387: 383: 379: 375: 372: 370: 367: 365: 362: 360: 357: 356: 352: 350: 347: 345: 342: 340: 337: 334: 333: 330: 328: 324: 316: 314: 312: 308: 304: 300: 296: 295:achromatopsia 288: 283: 281: 279: 275: 271: 263: 261: 255: 252: 249: 245: 242: 239: 236: 235:visual acuity 232: 231: 230: 224: 222: 220: 216: 212: 208: 204: 196: 193: 190: 189: 188: 186: 182: 178: 174: 170: 163: 161: 159: 155: 152: 148: 144: 140: 136: 132: 128: 125: 121: 117: 108: 104: 100: 96: 93: 92:achromatopsia 89: 87: 83: 79: 75: 72: 68: 64: 63:visual acuity 60: 58: 54: 51:Ophthalmology 50: 48: 44: 40: 36: 31: 19: 3506:Color vision 3491:Eye diseases 3276: / 3272: / 3251:Monochromacy 3183: / 3079:Heterophoria 3067: / 2766: / 2762: / 2666:hypertensive 2639: / 2460:Ciliary body 2375:Keratoglobus 2283:Episcleritis 2161:Enophthalmos 2156:Exophthalmos 2101:Trichomegaly 2096:Distichiasis 1998:Inflammation 1900:Monochromacy 1865:Color vision 1855:Visual field 1751: 1747: 1741: 1724: 1720: 1714: 1679: 1675: 1665: 1648: 1644: 1638: 1613: 1609: 1603: 1560: 1556: 1546: 1501: 1497: 1487: 1465:(6): 741–7. 1462: 1458: 1452: 1412:(1): 75–82. 1409: 1405: 1354: 1350: 1312: 1308: 1302: 1288: 1255: 1251: 1245: 1215:(4): 251–6. 1212: 1208: 1202: 1167: 1163: 1109: 1105: 1095: 1060: 1056: 1006: 1002: 948: 944: 938: 911: 907: 860:(1): 26–39. 857: 853: 812: 808: 749: 745: 717: 713: 711: 704: 697: 689: 677: 674:Epidemiology 668:gene complex 652:gene therapy 649: 640:Gene therapy 634: 591: 576:that causes 569: 567: 563: 537: 518: 513: 503: 486: 483:deuteranopia 476: 467:chromosome 3 458: 455:chromosome 7 439: 323:gene cluster 320: 310: 302: 298: 292: 270:color vision 267: 259: 228: 207:visual field 200: 181:color vision 179:and mediate 167: 119: 115: 114: 109:1 in 100,000 3401:Cycloplegia 3344:Photophobia 3339:Hemeralopia 3296:Hemianopsia 3274:Vision loss 3185:Aniseikonia 3176:Astigmatism 3096:Cyclotropia 3074:Hypertropia 2886:Papilledema 2858:Optic nerve 2691:Sickle cell 2671:Purtscher's 2656:Retinopathy 2524:Choroiditis 2365:Keratoconus 2186:Conjunctiva 2063:Xanthelasma 2015:Blepharitis 1915:Trichromacy 1170:: 876–884. 914:(1): 2–10. 624:Berson test 248:photophobia 244:Hemeralopia 147:photophobia 143:hemeralopia 127:eye disease 101:dark lenses 90:incomplete 77:Usual onset 71:hemeralopia 38:Other names 3485:Categories 3450:Infections 3371:Anisocoria 3334:Asthenopia 3327:subjective 3311:homonymous 3306:bitemporal 3258:Nyctalopia 3246:Dichromacy 3190:Presbyopia 3151:Refraction 2972:Strabismus 2862:Optic disc 2221:Pinguecula 2086:Trichiasis 1895:Dichromacy 1820:Physiology 1721:Vision Res 1406:Hum. Genet 1357:(6): 732. 1252:Hum. Genet 1209:Nat. Genet 1057:Vision Res 1003:J. Physiol 908:Eye (Lond) 724:References 664:photopsins 660:cone cells 546:Isoleucine 479:protanopia 461:(encoding 278:dichromacy 169:Cone cells 80:congenital 3422:Nystagmus 3396:Mydriasis 3270:Blindness 3216:Amblyopia 3204:Blindness 3164:Hyperopia 3089:Exophoria 3084:Esophoria 3069:Exotropia 3065:Esotropia 2603:Retinitis 2301:Keratitis 2278:Scleritis 2211:Pterygium 2091:Madarosis 2038:Ectropion 2033:Entropion 2010:Chalazion 1630:186212155 1176:1090-0535 631:Treatment 594:nystagmus 588:Diagnosis 473:Mutations 463:rhodopsin 451:photopsin 434:protein. 432:photopsin 414:MWS opsin 409:protein. 407:photopsin 389:LWS opsin 254:Nystagmus 139:nystagmus 124:inherited 106:Frequency 98:Treatment 67:nystagmus 47:Specialty 3461:Trachoma 3226:Diplopia 2921:Ischemic 2846:Pathways 2760:Glaucoma 2661:diabetic 2563:Cataract 2501:Synechia 2353:Meesmann 2321:Exposure 2306:herpetic 2204:allergic 2194:Chemosis 2128:Epiphora 1768:14338644 1706:13097391 1595:28751656 1538:25909963 1498:PLOS ONE 1436:10982039 1381:21267011 1329:13682677 1280:11799731 1237:23127406 1194:19421413 1128:10815162 1087:21167193 930:15094734 884:20579627 782:13093786 701:—  611:with an 556:and 180 441:opsin's 353:Purpose 327:position 289:Heredity 284:Genetics 225:Symptoms 219:scotopic 122:) is an 57:Symptoms 3301:binasal 3288:Anopsia 3231:Scotoma 3025:palsies 2788:Red eye 2773:Floater 2580:Aphakia 2511:Choroid 2481:Hyphema 2471:Uveitis 2078:Eyelash 1822:of the 1697:1366097 1616:: 260. 1586:5532293 1565:Bibcode 1529:4409040 1506:Bibcode 1479:6602551 1444:8527902 1372:3110038 1272:8792812 1229:1302020 1185:2676201 1078:3075382 1033:5313219 1024:1395698 981:4328439 973:1881435 953:Bibcode 875:2896775 831:8213841 822:1682301 774:2788922 754:Bibcode 746:Science 686:History 618:with a 584:genes. 558:Alanine 550:Alanine 542:Leucine 487:include 211:S-cones 3391:Miosis 3169:Myopia 2948:Kjer's 2696:photic 2595:Retina 2348:Fuchs' 2316:fungal 2293:Cornea 2270:Sclera 2053:Ptosis 1990:Eyelid 1978:Adnexa 1832:Vision 1766:  1704:  1694:  1628:  1593:  1583:  1536:  1526:  1477:  1442:  1434:  1379:  1369:  1327:  1278:  1270:  1235:  1227:  1192:  1182:  1174:  1126:  1085:  1075:  1031:  1021:  979:  971:  945:Nature 928:  882:  872:  829:  819:  780:  772:  707:(1777) 554:Valine 552:, 178 548:, 174 544:, 171 457:) and 447:OPN1SW 423:OPN1MW 418:300821 398:OPN1LW 393:300822 382:opsins 364:300824 145:, and 3415:Other 3363:Pupil 2753:Other 2397:sicca 2249:Globe 2148:Orbit 1626:S2CID 1440:S2CID 1402:(PDF) 1276:S2CID 1233:S2CID 977:S2CID 778:S2CID 600:with 582:opsin 572:is a 570:W177R 538:LIAVA 519:R247X 514:P307L 504:C203R 459:"RHO" 378:opsin 349:Locus 317:Genes 164:Cause 2555:Lens 2455:Iris 2005:Stye 1845:Gaze 1764:PMID 1702:PMID 1591:PMID 1534:PMID 1475:PMID 1432:PMID 1377:PMID 1325:PMID 1268:PMID 1225:PMID 1190:PMID 1172:ISSN 1124:PMID 1083:PMID 1029:PMID 969:PMID 926:PMID 880:PMID 827:PMID 770:PMID 532:exon 521:: a 506:: a 427:Xq28 402:Xq28 373:Xq28 344:Gene 339:OMIM 335:Type 321:The 268:The 233:Low 215:rods 151:cone 1756:doi 1729:doi 1692:PMC 1684:doi 1680:121 1653:doi 1618:doi 1581:PMC 1573:doi 1524:PMC 1514:doi 1467:doi 1422:hdl 1414:doi 1410:107 1367:PMC 1359:doi 1317:doi 1260:doi 1217:doi 1180:PMC 1114:doi 1110:118 1073:PMC 1065:doi 1019:PMC 1011:doi 1007:212 961:doi 949:352 916:doi 870:PMC 862:doi 817:PMC 762:doi 750:245 369:LCR 301:or 120:BCM 3487:: 1762:. 1752:74 1750:. 1723:. 1700:. 1690:. 1678:. 1674:. 1649:25 1647:. 1624:. 1614:67 1612:. 1589:. 1579:. 1571:. 1559:. 1555:. 1532:. 1522:. 1512:. 1502:10 1500:. 1496:. 1473:. 1463:95 1461:. 1438:. 1430:. 1420:. 1408:. 1404:. 1389:^ 1375:. 1365:. 1355:19 1353:. 1349:. 1337:^ 1323:. 1313:50 1311:. 1274:. 1266:. 1256:98 1254:. 1231:. 1223:. 1211:. 1188:. 1178:. 1168:15 1166:. 1162:. 1136:^ 1122:. 1108:. 1104:. 1081:. 1071:. 1061:51 1059:. 1055:. 1041:^ 1027:. 1017:. 1005:. 1001:. 989:^ 975:. 967:. 959:. 947:. 924:. 912:19 910:. 906:. 892:^ 878:. 868:. 858:87 856:. 852:. 839:^ 825:. 813:53 811:. 807:. 790:^ 776:. 768:. 760:. 748:. 731:^ 280:. 187:: 141:, 137:, 133:, 69:, 65:, 1951:e 1944:t 1937:v 1812:e 1805:t 1798:v 1770:. 1758:: 1735:. 1731:: 1725:1 1708:. 1686:: 1659:. 1655:: 1632:. 1620:: 1597:. 1575:: 1567:: 1561:7 1540:. 1516:: 1508:: 1481:. 1469:: 1446:. 1424:: 1416:: 1383:. 1361:: 1331:. 1319:: 1296:. 1282:. 1262:: 1239:. 1219:: 1213:1 1196:. 1130:. 1116:: 1089:. 1067:: 1035:. 1013:: 983:. 963:: 955:: 932:. 918:: 886:. 864:: 833:. 784:. 764:: 756:: 560:. 534:4 525:. 510:. 497:. 118:( 20:)

Index

Blue cone monochromacy
Specialty
Symptoms
visual acuity
nystagmus
hemeralopia
Differential diagnosis
achromatopsia
inherited
eye disease
color blindness
poor visual acuity
nystagmus
hemeralopia
photophobia
cone
photoreceptor cells
recessive X-linked
Cone cells
photoreceptor cell
photopic visual system
color vision
spectral sensitivity
fovea centralis
visual field
S-cones
rods
scotopic
visual acuity
Hemeralopia

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