Fundus Albipunctatus

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Xu, C. Fundus Albipunctatus. Encyclopedia. Available online: https://encyclopedia.pub/entry/3929 (accessed on 26 September 2026).

Xu C. Fundus Albipunctatus. Encyclopedia. Available at: https://encyclopedia.pub/entry/3929. Accessed September 26, 2026.

Xu, Camila. "Fundus Albipunctatus" Encyclopedia, https://encyclopedia.pub/entry/3929 (accessed September 26, 2026).

Xu, C. (2020, December 23). Fundus Albipunctatus. In Encyclopedia. https://encyclopedia.pub/entry/3929

Xu, Camila. "Fundus Albipunctatus." Encyclopedia. Web. 23 December, 2020.

Fundus Albipunctatus

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/fundus-albipunctatus

Fundus 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 specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.

genetic conditions

References

Driessen CA, Winkens HJ, Hoffmann K, Kuhlmann LD, Janssen BP, Van Vugt AH, VanHooser JP, Wieringa BE, Deutman AF, Palczewski K, Ruether K, Janssen JJ.Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation ofcis-retinols and cis-retinyl esters. Mol Cell Biol. 2000 Jun;20(12):4275-87.
Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, LupskiJR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with anR150Q mutation in RLBP1. Clin Genet. 2001 Jun;59(6):424-9.
Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association withcone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.Invest Ophthalmol Vis Sci. 2000 Nov;41(12):3925-32.
Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T,Macdonald IM, Sieving PA, Hejtmancik JF, Riazuddin S. Mutations in RLBP1associated with fundus albipunctatus in consanguineous Pakistani families. Br JOphthalmol. 2011 Jul;95(7):1019-24. doi: 10.1136/bjo.2010.189076.
Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Eckstein C, Rosenberg T.Lack of autofluorescence in fundus albipunctatus associated with mutations inRDH5. Retina. 2010 Nov-Dec;30(10):1704-13. doi: 10.1097/IAE.0b013e3181dc050a.
Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Fundusalbipunctatus associated with compound heterozygous mutations in RPE65.Ophthalmology. 2011 May;118(5):888-94. doi: 10.1016/j.ophtha.2010.09.005.
Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG,Holder GE, Webster AR. Phenotypic variability in RDH5 retinopathy (FundusAlbipunctatus). Ophthalmology. 2011 Aug;118(8):1661-70. doi:10.1016/j.ophtha.2010.12.031.
Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR. Fundus albipunctatus: review of theliterature and report of a novel RDH5 gene mutation affecting the invarianttyrosine (p.Tyr175Phe). J Appl Genet. 2015 Aug;56(3):317-27. doi:10.1007/s13353-015-0281-x.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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