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Fundus albipunctatus, autosomal recessive

MedGen UID:: 865183
•Concept ID:: C4016746
•: Finding

Synonym:	FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE

OMIM®:	601617

Recent clinical studies

Etiology

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR
J Appl Genet 2015 Aug;56(3):317-27. Epub 2015 Mar 28 doi: 10.1007/s13353-015-0281-x. PMID: 25820994 Free PMC Article

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A
Nat Genet 2004 Aug;36(8):850-4. Epub 2004 Jul 18 doi: 10.1038/ng1394. PMID: 15258582

See all (3)

Diagnosis

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259

Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.

Yang G, Liu Z, Xie S, Li C, Lv L, Zhang M, Zhao J
Sci Rep 2017 Apr 10;7:46285. doi: 10.1038/srep46285. PMID: 28393863 Free PMC Article

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D
Acta Ophthalmol 2015 Jun;93(4):e281-6. Epub 2014 Nov 27 doi: 10.1111/aos.12573. PMID: 25429852

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP
JAMA Ophthalmol 2013 Oct;131(10):1314-23. doi: 10.1001/jamaophthalmol.2013.4476. PMID: 23929416

Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.

Nakamura M, Lin J, Miyake Y
Arch Ophthalmol 2004 Aug;122(8):1203-7. doi: 10.1001/archopht.122.8.1203. PMID: 15302662

See all (10)

Prognosis

Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.

Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus.

Wada Y, Abe T, Fuse N, Tamai M
Invest Ophthalmol Vis Sci 2000 Jun;41(7):1894-7. PMID: 10845614

See all (3)

Clinical prediction guides

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.

Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S, Ueno S, Tsunoda K, Iwata T, Kondo M
Medicine (Baltimore) 2022 Dec 16;101(50):e32161. doi: 10.1097/MD.0000000000032161. PMID: 36550847 Free PMC Article

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.

Torres-Costa S, Ferreira CS, Grangeia A, Santos-Silva R, Brandão E, Estrela-Silva S, Falcão-Reis F
Eur J Ophthalmol 2021 May;31(3):NP74-NP80. Epub 2020 Apr 28 doi: 10.1177/1120672120919064. PMID: 32345050

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D
Acta Ophthalmol 2015 Jun;93(4):e281-6. Epub 2014 Nov 27 doi: 10.1111/aos.12573. PMID: 25429852

Fundus albipunctatus associated with compound heterozygous mutations in RPE65.

Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T
Ophthalmology 2011 May;118(5):888-94. Epub 2011 Jan 6 doi: 10.1016/j.ophtha.2010.09.005. PMID: 21211845

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Fundus albipunctatus, autosomal recessive

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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