[一种具有X染色体遗传的新型眼综合征。一个患有眼底白化病、黄斑发育不全、眼球震颤、近视、散光和色觉异常的家族谱系] - Suppr

[A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA].

作者信息

FORSIUS H, ERIKSSON A W

出版信息

Klin Monbl Augenheilkd. 1964 Apr;144:447-57.

PMID:14230113

Abstract

摘要

相似文献

[A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA].

Klin Monbl Augenheilkd. 1964 Apr;144:447-57.

SOME EXPERIENCE OF CLINICAL FLICKER ELECTRORETINOGRAPHY IN VARIOUS EYE DISEASES.

Acta Ophthalmol (Copenh). 1964;42:144-64. doi: 10.1111/j.1755-3768.1964.tb07860.x.

Atrophic macular changes with emphasis on hereditary aspects.

Trans Ophthalmol Soc U K (1962). 1972;92:419-47.

[CONSIDERATIONS ON VISUAL DEFECTS FOUND IN THE SCHOOL POPULATION OF THE TOWN OF CARRARA IN THE SCHOOL-YEARS 1961-1962 AND 1962-1963].

Riv Ital Ig. 1963 Jul-Aug;23:317-24.

Aland eye disease: no albino misrouting.

Clin Genet. 1985 Dec;28(6):526-31. doi: 10.1111/j.1399-0004.1985.tb00421.x.

Isolated foveal hypoplasia.

Arch Ophthalmol. 1976 Jan;94(1):48-50. doi: 10.1001/archopht.1976.03910030014005.

Clinical and electroretinographic comparison between Aland Island eye disease and a newly found related disease with X-chromosomal inheritance.

Acta Ophthalmol (Copenh). 1991 Dec;69(6):703-10. doi: 10.1111/j.1755-3768.1991.tb02047.x.

Nystagmographical studies in Aland eye disease.

Monogr Hum Genet. 1972;6:205. doi: 10.1159/000392708.

Refractive development in individuals with ocular and oculocutaneous albinism.

Int Ophthalmol. 2022 Jul;42(7):2007-2015. doi: 10.1007/s10792-021-02165-6. Epub 2022 May 19.

A TECHNIQUE FOR EVALUATING PHOTOPIC AND SCOTOPIC FLICKER FUNCTION WITH ONE LIGHT INTENSITY.

Doc Ophthalmol. 1964;18:452-61. doi: 10.1007/BF00160597.

引用本文的文献

Ȧland Island eye disease in two patients harboring novel variants.

Ophthalmic Genet. 2025 May 21:1-4. doi: 10.1080/13816810.2025.2505914.

A Novel Splice-Site Variant in Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Genes (Basel). 2021 Jan 27;12(2):171. doi: 10.3390/genes12020171.

Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity.

Biomed Res Int. 2018 May 23;2018:1048317. doi: 10.1155/2018/1048317. eCollection 2018.

Retinal findings in a patient of French ancestry with CABP4-related retinal disease.

Doc Ophthalmol. 2018 Apr;136(2):135-143. doi: 10.1007/s10633-018-9629-y. Epub 2018 Mar 10.

Insight into the molecular genetics of myopia.

Mol Vis. 2017 Dec 31;23:1048-1080. eCollection 2017.

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Invest Ophthalmol Vis Sci. 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445.

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

PLoS One. 2013 Oct 4;8(10):e76414. doi: 10.1371/journal.pone.0076414. eCollection 2013.

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

Mol Vis. 2011;17:3262-70. Epub 2011 Dec 15.

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814-9. doi: 10.1167/iovs.10-6815.

Clinical features of affected males with X linked ocular albinism.

Br J Ophthalmol. 1993 Apr;77(4):222-7. doi: 10.1136/bjo.77.4.222.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

[A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA].

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

[A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA].

作者信息

出版信息

相似文献

引用本文的文献