Genetic Testing for Inherited Retinal Disease.

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective

BACKGROUND/AIMS The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. METHODS Telephone questionnaires comprising quantitative and qualitative items were completed with adults...

The current status of molecular diagnosis of inherited retinal dystrophies.

PURPOSE OF REVIEW We are witnessing lightning-fast advances in the molecular diagnosis of inherited retinal dystrophies, mainly due to the widespread use of next-generation sequencing technologies. The purpose of this review is to highlight the breadth of findings from this in-depth testing approach, and to propose changes to our traditional testing and diagnostic paradigms. Lessons learned fro...

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans.

A review of retinoblastoma disease

Retinoblastoma is a rare type of eye cancer that usually occurs in early childhood, usually before the age of five. This type of cancer occurs in the retina, the light-sensitive tissue behind the eye that recognizes light and color. It is the most common type of eye cancer in children. One-third of all retinoblastomas are inherited, meaning that mutations in the RB1 gene are present in all cell...

[Evidence-based diagnostic approach to inherited retinal dystrophies 2009].

BACKGROUND Hereditary retinal dystrophies comprise a heterogeneous group of inherited retinal disorders with variable clinical presentation and multiple associated genes. Clinical diagnosis and differential diagnosis are difficult. The purpose of the current paper is to provide guidelines for an effective diagnostic approach. METHODS A literature search was carried out and our own data on cli...