Aims: To describe previously unreported retinal findings in patients with Alport Syndrome (AS), as well as review the range of ophthalmic manifestations. Methods: Retrospective review of clinical records of patients with AS. Results: Nine patients with AS were identified, of whom three had no eye findings, four showed classic features of AS, and two had new findings, bull’s eye and vitelliform maculopathy. The genetic mutation responsible for the disease in the patient with vitelliform subretinal deposits was identified. Conclusions: Patients with AS can present with a variety of ophthalmic manifestations. Bull’s eye maculopathy and vitelliform deposits can be features of AS. The mechanis
Purpose : Mutations in RPE65 have been primarily associated with Leber Congenital Amaurosis (LCA) an...
Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Method...
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Alport syndrome is associated with various ocular phenotypic features, including several retinal man...
Background: Alport syndrome is an inherited Type IV collagenopathy characterised by renal failure, h...
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS,...
Background: Wilson’s disease is an autosomal recessive genetic disorder resulting from an abnormalit...
PURPOSE: To determine the genetic defect and to describe the clinical characteristics in patients wi...
PURPOSE: The purpose of this study was to characterize the phenotypic spectrum of ophthalmic finding...
BACKGROUND: This study determined the family history and clinical features that suggested autosomal ...
Contains fulltext : 203178.pdf (publisher's version ) (Open Access)Purpose: To des...
Contains fulltext : 89418.pdf (publisher's version ) (Closed access)OBJECTIVE: To ...
PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Purpose : Mutations in RPE65 have been primarily associated with Leber Congenital Amaurosis (LCA) an...
Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Method...
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Alport syndrome is associated with various ocular phenotypic features, including several retinal man...
Background: Alport syndrome is an inherited Type IV collagenopathy characterised by renal failure, h...
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS,...
Background: Wilson’s disease is an autosomal recessive genetic disorder resulting from an abnormalit...
PURPOSE: To determine the genetic defect and to describe the clinical characteristics in patients wi...
PURPOSE: The purpose of this study was to characterize the phenotypic spectrum of ophthalmic finding...
BACKGROUND: This study determined the family history and clinical features that suggested autosomal ...
Contains fulltext : 203178.pdf (publisher's version ) (Open Access)Purpose: To des...
Contains fulltext : 89418.pdf (publisher's version ) (Closed access)OBJECTIVE: To ...
PURPOSE: In 1980, we published in the American Journal of Ophthalmology two siblings with hereditary...
Background. Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and oc...
Purpose : Mutations in RPE65 have been primarily associated with Leber Congenital Amaurosis (LCA) an...
Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Method...
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa...