X-linked retinal disorders and the Lyon hypothesis
- PMID: 3868876
X-linked retinal disorders and the Lyon hypothesis
Abstract
The heterozygous states in X-linked ocular albinism, choroideremia and X-linked retinitis pigmentosa are described. Their fundus appearances differ, to a greater or lesser extent, from those of hemizygous (affected) males and a possible explanation for these differences is briefly discussed.
Similar articles
-
X-linked recessive fundus dystrophies and their carrier states.Trans Ophthalmol Soc U K (1962). 1970;90:127-38. Trans Ophthalmol Soc U K (1962). 1970. PMID: 5283398 No abstract available.
-
Sex-linked chorioretinal heredodegenerations.Birth Defects Orig Artic Ser. 1971 Mar;7(3):99-116. Birth Defects Orig Artic Ser. 1971. PMID: 4950918 Review.
-
X-linked familial exudative vitreoretinopathy. Report of one family.Retina. 1995;15(2):141-5. Retina. 1995. PMID: 7624602
-
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97. Invest Ophthalmol Vis Sci. 1997. PMID: 9331262
-
Clinical methods for detecting the carrier state of X-chromosome-linked retinal disorders.Int Ophthalmol Clin. 1993 Spring;33(2):203-17. doi: 10.1097/00004397-199303320-00019. Int Ophthalmol Clin. 1993. PMID: 8325734 Review. No abstract available.
Cited by
-
Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.Proc Natl Acad Sci U S A. 1999 Jun 22;96(13):7364-9. doi: 10.1073/pnas.96.13.7364. Proc Natl Acad Sci U S A. 1999. PMID: 10377420 Free PMC article.
-
Multifocal ERG findings in carriers of X-linked retinoschisis.Doc Ophthalmol. 2007 Jan;114(1):21-6. doi: 10.1007/s10633-006-9034-9. Epub 2006 Dec 19. Doc Ophthalmol. 2007. PMID: 17180613 Free PMC article.
-
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.Eye (Lond). 2010 May;24(5):764-74. doi: 10.1038/eye.2009.270. Epub 2009 Nov 6. Eye (Lond). 2010. PMID: 19893586 Free PMC article.
-
Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.J Clin Med. 2025 Jan 18;14(2):614. doi: 10.3390/jcm14020614. J Clin Med. 2025. PMID: 39860622 Free PMC article. Review.
-
Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.Exp Eye Res. 2013 Aug;113:41-8. doi: 10.1016/j.exer.2013.05.003. Epub 2013 May 10. Exp Eye Res. 2013. PMID: 23669302 Free PMC article.
MeSH terms
LinkOut - more resources
Medical