Progressive cone degeneration, dominantly inherited.

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作者信息

Berson E L, Gouras P, Gunkel R D

出版信息

Arch Ophthalmol. 1968 Jul;80(1):77-83. doi: 10.1001/archopht.1968.00980050079011.

DOI:10.1001/archopht.1968.00980050079011

PMID:5660021

Abstract

摘要

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Progressive cone degeneration, dominantly inherited.

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A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

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相似文献

Progressive cone degeneration, dominantly inherited.

Arch Ophthalmol. 1968 Jul;80(1):77-83. doi: 10.1001/archopht.1968.00980050079011.

Progressive cone-rod degeneration.

Arch Ophthalmol. 1968 Jul;80(1):68-76. doi: 10.1001/archopht.1968.00980050070010.

Cone spectral sensitivity and chromatic adaptation as revealed by human flicker-electroretinography.

Vision Res. 1971 Jan;11(1):27-42. doi: 10.1016/0042-6989(71)90203-3.

Rod responses in retinitis pigmentosa, dominantly inherited.

Arch Ophthalmol. 1968 Jul;80(1):58-67. doi: 10.1001/archopht.1968.00980050060009.

Optics and visual physiology.

Arch Ophthalmol. 1969 Aug;82(2):269-88. doi: 10.1001/archopht.1969.00990020271026.

Optics and visual physiology.

Arch Ophthalmol. 1968 Aug;80(2):280-99. doi: 10.1001/archopht.1968.00980050282023.

NON-INDEPENDENCE OF RED AND BLUE ERG RESPONSES EVOKED BY INTERMITTENT STIMULATION.

Doc Ophthalmol. 1964;18:522-8. doi: 10.1007/BF00160604.

The development of retinal neurophysiology.

Science. 1968 Jun 14;160(3833):1192-6. doi: 10.1126/science.160.3833.1192.

Acquired cone dysfunction and other photopic system diseases.

Arch Ophthalmol. 1968 Jan;79(1):18-21. doi: 10.1001/archopht.1968.03850040020007.

[Adaptational changes in human cone flicker electroretinogram].

Nippon Ganka Gakkai Zasshi. 1988 Mar;92(3):549-56.

引用本文的文献

Cone Dystrophies: An Optical Coherence Tomography Angiography Study.

J Clin Med. 2020 May 16;9(5):1500. doi: 10.3390/jcm9051500.

Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.

Br J Ophthalmol. 2018 Jan;102(1):136-141. doi: 10.1136/bjophthalmol-2017-310498. Epub 2017 Oct 26.

Two siblings with late-onset cone-rod dystrophy and no visible macular degeneration.

Clin Ophthalmol. 2013;7:1703-11. doi: 10.2147/OPTH.S48723. Epub 2013 Aug 28.

A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3863-70. doi: 10.1167/iovs.04-0590.

ERGs, cone-isolating VEPs and analytical techniques in children with cone dysfunction syndromes.

Doc Ophthalmol. 2003 May;106(3):289-304. doi: 10.1023/a:1022909328103.

Psychosocial genetics: an emerging scientific discipline.

J Med Genet. 1993 Jul;30(7):537. doi: 10.1136/jmg.30.7.537.

Vitreous fluorophotometry in patients with cone-rod dystrophy.

Br J Ophthalmol. 1984 Jul;68(7):489-93. doi: 10.1136/bjo.68.7.489.

Cone and rod ERGs in degenerations of central retina.

Graefes Arch Clin Exp Ophthalmol. 1983;220(5):201-8. doi: 10.1007/BF02308075.

Supernormal scotopic ERG in cone dystrophy.

Br J Ophthalmol. 1984 Feb;68(2):69-78. doi: 10.1136/bjo.68.2.69.

Stargardt's hereditary progressive macular degeneration.

Br J Ophthalmol. 1972 Nov;56(11):817-26. doi: 10.1136/bjo.56.11.817.