Optic Disk Coloboma and Contralateral Optic Disk Pit Maculopathy Treated by Vitrectomy in a Patient With Noonan Syndrome With Multiple Lentigines

Heurck, Jonas J Van den; Boven, K; Claes, C

doi:10.1097/icb.0000000000001144

Cited by 2 publications

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References 9 publications

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“…Recently ocular coloboma was assessed in a 7 y.o. patient with a genetically proven Noonan syndrome due to a PTPN11 mutation [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Zucco,

Baldan,

Allegri

et al. 2024

J Hum Genet

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Phenotypic and genotypic heterogeneity in congenital ocular diseases, especially in anterior segment dysgenesis (ASD), have created challenges for proper diagnosis and classification of diseases. Over the last decade, genomic research has indeed boosted our understanding in the molecular basis of ASD and genes associated with both autosomal dominant and recessive patterns of inheritance have been described with a wide range of expressivity. Here we describe the molecular characterization of a cohort of 162 patients displaying isolated or syndromic congenital ocular dysgenesis. Samples were analyzed with diverse techniques, such as direct sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing (WES), over 20 years. Our data reiterate the notion that PAX6 alterations are primarily associated with ASD, mostly aniridia, since the majority of the cohort (66.7%) has a pathogenic or likely pathogenic variant in the PAX6 locus. Unexpectedly, a high fraction of positive samples (20.3%) displayed deletions involving the 11p13 locus, either partially/totally involving PAX6 coding region or abolishing its critical regulatory region, underlying its significance. Most importantly, the use of WES has allowed us to both assess variants in known ASD genes (i.e., CYP1B1, ITPR1, MAB21L1, PXDN, and PITX2) and to identify rarer phenotypes (i.e., MIDAS, oculogastrointestinal-neurodevelopmental syndrome and Jacobsen syndrome). Our data clearly suggest that WES allows expanding the analytical portfolio of ocular dysgenesis, both isolated and syndromic, and that is pivotal for the differential diagnosis of those conditions in which there may be phenotypic overlaps and in general in ASD.

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“…Recently ocular coloboma was assessed in a 7 y.o. patient with a genetically proven Noonan syndrome due to a PTPN11 mutation [ 51 ].…”

Section: Discussionmentioning

confidence: 99%

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Zucco,

Baldan,

Allegri

et al. 2024

J Hum Genet

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Optic Disk Coloboma and Contralateral Optic Disk Pit Maculopathy Treated by Vitrectomy in a Patient With Noonan Syndrome With Multiple Lentigines

Abstract: Supplemental Digital Content is Available in the Text. The authors present the case of a patient with optic disk pit maculopathy related to Noonan syndrome with multiple lentigines, which was treated using pars plana vitrectomy.

Cited by 2 publications

References 9 publications

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

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