Keyword Analysis & Research: fundus albipunctatus

arizona.edu

https://disorders.eyes.arizona.edu/disorders/fundus-albipunctatus

WebFundus albipunctatus is a genetic disorder that causes flecked retina syndrome with small yellow-white dots in the retina. It can be inherited in an autosomal dominant or recessive pattern and has no systemic disease …

DA: 40 PA: 37 MOZ Rank: 46

arizona.edu

https://disorders.eyes.arizona.edu/disorders/bardet-biedl-syndromes

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aao.org

https://eyewiki.aao.org/Congenital_Stationary_Night_Blindness_(CSNB)

There are currently no treatments for CSNB. However, a small nonrandomized prospective study of seven patients with fundus albipunctatus (defect in RDH5 gene) treated with high dose oral 9-cis-beta-carotene demonstrated improvement in visual field and ERG testing.Photoreceptor replacement by transplantation and gene therapy are modalities under inv...

There are currently no treatments for CSNB. However, a small nonrandomized prospective study of seven patients with fundus albipunctatus (defect in RDH5 gene) treated with high dose oral 9-cis-beta-carotene demonstrated improvement in visual field and ERG testing.Photoreceptor replacement by transplantation and gene therapy are modalities under inv...

DA: 99 PA: 65 MOZ Rank: 20

medlineplus.gov

https://medlineplus.gov/genetics/condition/fundus-albipunctatus/

WebFundus albipunctatus is a condition that causes night blindness and white flecks in the retina, which affects the ability to see in low light. It is inherited in an autosomal dominant …

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nih.gov

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543405/

WebMar 28, 2015 · Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow … Author: Anna Skorczyk-Werner, Przemysław Pawłowski, Marta Michalczuk, Alicja Warowicka, Anna Wawrocka, Katar... DOI: 10.1007/s13353-015-0281-x Publish Year: 2015 Publication: J Appl Genet. 2015; 56(3): 317-327.

Author: Anna Skorczyk-Werner, Przemysław Pawłowski, Marta Michalczuk, Alicja Warowicka, Anna Wawrocka, Katar...

DOI: 10.1007/s13353-015-0281-x

Publish Year: 2015

Publication: J Appl Genet. 2015; 56(3): 317-327.

DA: 2 PA: 53 MOZ Rank: 7

orpha.net

https://www.orpha.net/en/disease/detail/227796

WebDisease definition. Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions …

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arizona.edu

https://disorders.eyes.arizona.edu/disorders/flecked-retina-syndromes

WebAutosomal recessive fundus albipunctatus ( 136880) is caused by mutations in RDH5 (12q13-q14) and sometimes in RLBP1 (15q26.1). Retinitis punctata albescens ( 136880) and fundus albipunctatus ( …

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ncsu.edu

https://rarediseases.oscar.ncsu.edu/disease/fundus-albipunctatus/about/

WebFundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the …

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wiley.com

https://onlinelibrary.wiley.com/doi/full/10.1111/aos.14693

WebDec 26, 2020 · Fundus albipunctatus is caused by defective recycling of retinoids in the visual cycle (e.g. recessive mutations in RDH5 encoding retinol dehydrogenase 5 or …

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arizona.edu

https://disorders.eyes.arizona.edu/handouts/fundus-albipunctatus

WebFundus albipunctatus is a rare disorder that causes night blindness and white or yellow dots in the retina. It is inherited in an autosomal recessive pattern and can be diagnosed …

DA: 44 PA: 91 MOZ Rank: 67