Pubblicazioni

Autori:

Paolacci, Stefano; Iarossi, Giancarlo; Gusson, Elena; Maltese, Paolo Enrico; Dallavilla, Tiziano; Fanelli, Francesca; Zulian, Alessandra; Cerra, Davide; Unfer, Vittorio; Marchini, Giorgio; Bertelli, Matteo

Titolo:

CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes

Anno:

2020

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

Elettronico

Referee:

Sì

Nome rivista:

JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS

ISSN Rivista:

0191-3913

N° Volume:

57

Intervallo pagine:

e19-e24

Parole chiave:

Stargardt Disease; Retinal Pigment Epithelium; Autofluorescence

Breve descrizione dei contenuti:

Cystic maculopathy has been associated with genetic disorders such as retinitis pigmentosa, X-linked retinoschisis, cone dystrophy, and foveal retinoschisis. Familial foveal retinoschisis was recently described as a rare disease caused by CRB1 variants. The authors report the phenotype-genotype pattern of a pair of dizygotic twins with early-onset cystic maculopathy due to CRB1 pathogenic variants. The twins were conceived by heterologous fertilization with variant-carrying oocytes. The probands were monitored for a period of 4 years. Next generation sequencing of a panel of genes responsible for retinal dystrophies was performed. Both children carried three pathogenic variants in CRB1: a novel heterozygous truncating variant p.(Val855*) inherited from the father and two known heterozygous missense variants, p.[(Phe144Val; Thr745Met)], inherited from the oocyte donor. The findings confirm that CRB1 variants can be responsible for foveal retinoschisis with variable clinical expressivity ranging from schitic macular alteration to early-onset forms of cystic maculopathy. The authors highlight the importance of exome analysis of gamete donors to assess the likelihood of recessively inherited disorders by means of a prediction algorithm able to combine parent and donor exome data. [J Pediatr Ophthalmol Strabismus. 2020;57:e19-e24.].

Id prodotto:

119822

Handle IRIS:

11562/1038131

ultima modifica:

15 marzo 2024

Citazione bibliografica:

Paolacci, Stefano; Iarossi, Giancarlo; Gusson, Elena; Maltese, Paolo Enrico; Dallavilla, Tiziano; Fanelli, Francesca; Zulian, Alessandra; Cerra, Davide; Unfer, Vittorio; Marchini, Giorgio; Bertelli, Matteo, CRB1-Related Cystic Maculopathy in Twins Conceived Through Heterologous Fertilization With Variant-Carrying Oocytes «JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS» , vol. 57 , 2020 , pp. e19-e24

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