Meta-analysis of ocular axial length in newborns and infants up to 3 years of age

Groot, Annabel L.W.; Lissenberg‐Witte, Birgit I.; Rijn, L.J. van; Hartong, Dyonne T.

doi:10.1016/j.survophthal.2021.05.010

Cited by 17 publications

(28 citation statements)

References 37 publications

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“…To construct the retinal growth function, we used data obtained from three different sources: [4], [5], [6].…”

Section: Initial Datamentioning

confidence: 99%

“…The work [5] is a review article summarizing the work devoted to the measurement of the axial length of the eye in children from 0 to 3 years old, performed by the method of ultrasound scanning. The authors analyzed the measurements of 6575 eyes presented in 27 scientific articles.…”

Section: Initial Datamentioning

confidence: 99%

“…(2.1). The figure shows data from all three sources: [4], [5], [6]. Data from work [5] (children from 0 to 4 years old) are marked with black squares.…”

Section: Initial Datamentioning

confidence: 99%

“…The figure shows data from all three sources: [4], [5], [6]. Data from work [5] (children from 0 to 4 years old) are marked with black squares. The top graph shows the data [4], [5] for ages from 3 to 33 months (data without gender division).…”

Section: Initial Datamentioning

confidence: 99%

“…Data from work [5] (children from 0 to 4 years old) are marked with black squares. The top graph shows the data [4], [5] for ages from 3 to 33 months (data without gender division). The middle graph (different timescale) shows data for ages from 0 to 240 months (20 years) for women.…”

Section: Initial Datamentioning

confidence: 99%

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Modeling the age distribution of retinoblastomas

Tetearing

2021

Preprint

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In this work, based on real data on the size of the eyeball (in a fetus, in a child, and in young people under 20), we constructed a model function of the growth of the retinal cell tissue.We used this function to construct a theoretical age distribution of retinoblastomas. We constructed theoretical age distributions for four different models of retinoblastoma: a complex mutational model, a third mutational model, a model with a sequence of key events, and a model of a single oncogenic event with two different latencies (hereditary and non-hereditary retinoblastoma).We compared the theoretical age distribution of retinoblastomas with the real age distribution based on SEER data (Surveillance Epidemiology and End Results; program of the American National Cancer Institute). In total, we examined 843 cases in women and 908 cases in men.For all models (separately for women and men), we obtained estimates of the following cancer parameters: the specific frequency of key events (events that trigger cancer); the duration of the latency period of cancer; the number of key events required for cancer to occur.For the composite age distributions, we calculated the theoretical mean age at diagnosis for hereditary and non-hereditary retinoblastomas.The best approximation accuracy (for male and female forms of retinoblastoma) is shown by a model with a sequence of key events.

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“…To construct the retinal growth function, we used data obtained from three different sources: [4], [5], [6].…”

Section: Initial Datamentioning

confidence: 99%

Section: Initial Datamentioning

confidence: 99%

“…(2.1). The figure shows data from all three sources: [4], [5], [6]. Data from work [5] (children from 0 to 4 years old) are marked with black squares.…”

Section: Initial Datamentioning

confidence: 99%

Section: Initial Datamentioning

confidence: 99%

Section: Initial Datamentioning

confidence: 99%

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Modeling the age distribution of retinoblastomas

Tetearing

2021

Preprint

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Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome

et al. 2022

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Galloway-Mowat syndrome (GAMOS) is a very rare condition characterized by earlyonset nephrotic syndrome and microcephaly with variable neurologic features.While considerable genetic heterogeneity of GAMOS has been identified, the majority of cases are caused by pathogenic variants in genes encoding the four components of the Kinase, endopeptidase, and other proteins of small size (KEOPS) complex, one of which is TP53RK. Here we describe a 3-year-old male with progressive microcephaly, neurodevelopmental deficits, and glomerular proteinuria.He was found to carry a novel homozygous TP53RK missense variant, c.163C>G (p.Arg55Gly), which was considered as potentially disease-causing. We generated a morpholino tp53rk knockdown model in Xenopus laevis showing that the depletion of endogenous Tp53rk caused abnormal eye and head development. This phenotype could be rescued by the expression of human wildtype TP53RK but not by the c.163C>G mutant nor by another previously described GAMOS-associated mutant c.125G>A (p.Gly42Asp). These findings support the pathogenic role of the novel TP53RK variant.

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