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Retinitis punctata albescens

MedGen UID:
278050
Concept ID:
C1405854
Disease or Syndrome
Synonym: Retinitis Punctata Albescens
SNOMED CT: Retinitis punctata albescens (715562001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018877
OMIM®: 136880; 180090; 180380
Orphanet: ORPHA52427

Definition

A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life. [from ORDO]

Professional guidelines

PubMed

Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I
Acta Ophthalmol 2013 Aug;91(5):437-44. Epub 2012 May 2 doi: 10.1111/j.1755-3768.2012.02431.x. PMID: 22551409

Recent clinical studies

Etiology

Qiu A, Yu Y, Huang J, Liu Q, Paulus YM, Fan W
Eur J Ophthalmol 2022 Jan;32(1):NP134-NP138. Epub 2020 Oct 8 doi: 10.1177/1120672120962027. PMID: 35042295Free PMC Article
Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I
Acta Ophthalmol 2013 Aug;91(5):437-44. Epub 2012 May 2 doi: 10.1111/j.1755-3768.2012.02431.x. PMID: 22551409
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050
Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR
Clin Genet 2001 Jun;59(6):424-9. doi: 10.1034/j.1399-0004.2001.590607.x. PMID: 11453974
De Laey JJ
Bull Soc Belge Ophtalmol 1993;249:11-22. PMID: 7952338

Diagnosis

Espinosa-Barberi G, Galván González JF, Viera Peláez D
Rom J Ophthalmol 2020 Apr-Jun;64(2):213-216. PMID: 32685789Free PMC Article
Ramtohul P, Denis D
Ophthalmol Retina 2020 Jul;4(7):727. doi: 10.1016/j.oret.2020.03.013. PMID: 32646554
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
Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR
Clin Genet 2001 Jun;59(6):424-9. doi: 10.1034/j.1399-0004.2001.590607.x. PMID: 11453974
De Laey JJ
Bull Soc Belge Ophtalmol 1993;249:11-22. PMID: 7952338

Therapy

Macovei ML, Nica MA
Rom J Ophthalmol 2017 Apr-Jun;61(2):123-127. doi: 10.22336/rjo.2017.23. PMID: 29450385Free PMC Article
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050

Prognosis

Khan R, Shabbir RMK, Raza I, Abdullah U, Naeem MA, Ahmed A, Malik S, Hu Z, Xia K
Ophthalmic Genet 2020 Feb;41(1):7-12. Epub 2020 Jan 14 doi: 10.1080/13816810.2019.1709124. PMID: 31933420
Bagheri S, Pantrangi M, Sodhi SK, Bagheri S, Oellers P, Scholl HPN
Retin Cases Brief Rep 2020 Winter;14(1):85-89. doi: 10.1097/ICB.0000000000000628. PMID: 28827498
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N
Am J Hum Genet 2002 Apr;70(4):955-64. Epub 2002 Feb 26 doi: 10.1086/339688. PMID: 11868161Free PMC Article
Gränse L, Abrahamson M, Ponjavic V, Andréasson S
Ophthalmic Genet 2001 Jun;22(2):97-105. doi: 10.1076/opge.22.2.97.2231. PMID: 11449319

Clinical prediction guides

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
Espinosa-Barberi G, Galván González JF, Viera Peláez D
Rom J Ophthalmol 2020 Apr-Jun;64(2):213-216. PMID: 32685789Free PMC Article
Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI
Ophthalmology 2012 Sep;119(9):1899-906. Epub 2012 May 3 doi: 10.1016/j.ophtha.2012.02.037. PMID: 22559933
Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J
Am J Ophthalmol 1996 Jan;121(1):19-25. doi: 10.1016/s0002-9394(14)70530-6. PMID: 8554077
De Laey JJ
Bull Soc Belge Ophtalmol 1993;249:11-22. PMID: 7952338

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