Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons, and six grandchildren) had MFS. Lens ectopia was the most common ophthalmic involvement among the family (100%). Other ocular involvements were as follows; Hypoplastic iris or ciliary’s muscle hypoplasia (50%), on gated eyeball (42%), flat cornea (30%), glaucoma and cataract (25%), retinal detachment (16%). Three members of the family underwent eye ...
Background: Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulti...
Abstract.Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, w...
BACKGROUND: Marfan’s syndrome is a connective tissue disorder inherited as an autosomal dominant dis...
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS,...
Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutati...
BACKGROUND: To study biometric and structural ocular manifestations of Marfan syndrome (MFS). METHOD...
Patients with the connective tissue disorder Marfan syndrome (MFS) often have several ocular symptom...
Case report: We report the case of a child short in stature with brachydactyly and brachymorphy who ...
Contains fulltext : 108198.pdf (publisher's version ) (Open Access)PURPOSE: To des...
Aims: To describe previously unreported retinal findings in patients with Alport Syndrome (AS), as w...
Contains fulltext : 59228.pdf (publisher's version ) (Closed access)OBJECTIVE: To ...
Mutations in fibrillin-1 (FBN1) cause a wide spectrum of dis-orders, including Marfan syndrome, whic...
Marfan syndrome is a spectrum of disorder caused by a heritable genetic defect of connective tissue ...
Purpose To study ocular characteristics in 87 patients with verified Marfan syndrome (MFS) based on...
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive...
Background: Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulti...
Abstract.Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, w...
BACKGROUND: Marfan’s syndrome is a connective tissue disorder inherited as an autosomal dominant dis...
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS,...
Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutati...
BACKGROUND: To study biometric and structural ocular manifestations of Marfan syndrome (MFS). METHOD...
Patients with the connective tissue disorder Marfan syndrome (MFS) often have several ocular symptom...
Case report: We report the case of a child short in stature with brachydactyly and brachymorphy who ...
Contains fulltext : 108198.pdf (publisher's version ) (Open Access)PURPOSE: To des...
Aims: To describe previously unreported retinal findings in patients with Alport Syndrome (AS), as w...
Contains fulltext : 59228.pdf (publisher's version ) (Closed access)OBJECTIVE: To ...
Mutations in fibrillin-1 (FBN1) cause a wide spectrum of dis-orders, including Marfan syndrome, whic...
Marfan syndrome is a spectrum of disorder caused by a heritable genetic defect of connective tissue ...
Purpose To study ocular characteristics in 87 patients with verified Marfan syndrome (MFS) based on...
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive...
Background: Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulti...
Abstract.Purpose: We present a genetic and clinical analysis of two sisters, 3 and 4 years of age, w...
BACKGROUND: Marfan’s syndrome is a connective tissue disorder inherited as an autosomal dominant dis...