Nanophthalmos is a rare form of congenital hypermetropia, in which, the individual is at a high risk of developing angle-closure glaucoma. We report a family of nanophthalmos affecting a brother and sister, as confirmed by biometry. Genetic analysis revealed an autosomal recessive mode of inheritance. The sister developed angle-closure glaucoma, which was refractory to medical and laser therapy. She underwent surgical interventions which resulted in complications. The clinical presentation, management, and complications encountered are discusse
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...
Purpose: To present the clinical and electrophysiological findings in four members of a family with ...
SummaryNanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as i...
Microphthalmos is a type of developmental disorder ophthalmopathy, which can occur isolated or combi...
The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystroph...
Abstract Background Microophthalmos or ‘dwarf eye’ is characterized by an axial length 2 standard de...
Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormall...
PURPOSE: To (i) describe a series of patients with isolated or syndromic nanophthalmos with the unde...
Background. The aim of the study was to identify the molecular genetic cause of two different Mendel...
Abstract.Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, w...
Trabalho de projecto de mestrado integrado em Medicina (Oftalmologia) apresentado à Faculdade de Med...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective...
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...
Purpose: To present the clinical and electrophysiological findings in four members of a family with ...
SummaryNanophthalmos is an uncommon developmental ocular disorder characterized by a small eye, as i...
Microphthalmos is a type of developmental disorder ophthalmopathy, which can occur isolated or combi...
The simultaneous occurrence of nanophthalmos, angle closure glaucoma and pigmentary retinal dystroph...
Abstract Background Microophthalmos or ‘dwarf eye’ is characterized by an axial length 2 standard de...
Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormall...
PURPOSE: To (i) describe a series of patients with isolated or syndromic nanophthalmos with the unde...
Background. The aim of the study was to identify the molecular genetic cause of two different Mendel...
Abstract.Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, w...
Trabalho de projecto de mestrado integrado em Medicina (Oftalmologia) apresentado à Faculdade de Med...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 2...
The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective...
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...
Purpose: To present the clinical and electrophysiological findings in four members of a family with ...