Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in MYRF, TMEM98, MFRP, and PRSS56. Two of four PRSS56 families harbored the previously described c.1066dupC variant implicated in over half of all reported PRSS56 kindreds, with different surrounding haplotypes in each family suggesting a mutational hotspot. Individuals with a genetic diagnosis had shorter mean axial lengths and higher hyperopia than those without, with recessi...
Purpose: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Al...
SummaryNanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as i...
Trabalho de projecto de mestrado integrado em Medicina (Oftalmologia) apresentado à Faculdade de Med...
Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormall...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthal...
Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthal...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
Made available with a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY...
Background. The aim of the study was to identify the molecular genetic cause of two different Mendel...
PURPOSE: To (i) describe a series of patients with isolated or syndromic nanophthalmos with the unde...
International audienceCongenital ocular anomalies such as anophthalmia and microphthalmia (AM) are s...
Purpose: Posterior microphthalmos (MCOP)/nanophthalmos (NNO) is a developmental anomaly characterize...
Eye formation is the result of coordinated induction and differentiation processes during embryogene...
Abstract.Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, w...
Purpose: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Al...
SummaryNanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as i...
Trabalho de projecto de mestrado integrado em Medicina (Oftalmologia) apresentado à Faculdade de Med...
Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormall...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthal...
Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthal...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
Made available with a Creative Commons Attribution-NonCommercial-NoDerivatives License 3.0, or CC BY...
Background. The aim of the study was to identify the molecular genetic cause of two different Mendel...
PURPOSE: To (i) describe a series of patients with isolated or syndromic nanophthalmos with the unde...
International audienceCongenital ocular anomalies such as anophthalmia and microphthalmia (AM) are s...
Purpose: Posterior microphthalmos (MCOP)/nanophthalmos (NNO) is a developmental anomaly characterize...
Eye formation is the result of coordinated induction and differentiation processes during embryogene...
Abstract.Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, w...
Purpose: Myopia (nearsightedness) is a condition in which a refractive error (RE) affects vision. Al...
SummaryNanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as i...
Trabalho de projecto de mestrado integrado em Medicina (Oftalmologia) apresentado à Faculdade de Med...