Improving cancer patient care: development of a generic cancer consumer quality index questionnaire for cancer patients.

Background: To develop a Consumer Quality Index (CQI) Cancer Care questionnaire for measuring experiences with hospital care of patients with different types of cancer.

Methods: We derived quality aspects from focus group discussions, existing questionnaires and literature. We developed an experience questionnaire and sent it to 1,498 Dutch cancer patients.

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Objective: To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB).

Design: Retrospective case series.

Participants: Ten patients with ARB from 7 different families.

Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.

Purpose: To develop a high-throughput, cost-effective diagnostic strategy for the identification of known and new mutations in 90 retinal disease genes.

Design: Evidence-based study.

Participants: Sixty patients with a variety of retinal disorders, including Leber's congenital amaurosis, ocular albinism, pseudoxanthoma elasticum, retinitis pigmentosa, and Stargardt's disease.

A new strategy to identify and annotate human RPE-specific gene expression.

Background: To identify and functionally annotate cell type-specific gene expression in the human retinal pigment epithelium (RPE), a key tissue involved in age-related macular degeneration and retinitis pigmentosa.

Methodology: RPE, photoreceptor and choroidal cells were isolated from selected freshly frozen healthy human donor eyes using laser microdissection. RNA isolation, amplification and hybridization to 44 k microarrays was carried out according to Agilent specifications.

Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.

Purpose: To describe the disease course in patients with vitelliform macular dystrophy (VMD) with a Best1 mutation and to determine the association between Best1 genotype and visual prognosis.

Design: Consecutive case series.

Participants: Fifty-three patients with VMD with Best1 mutations from 27 Dutch families, aged 11 to 87 years.

Functional annotation of the human retinal pigment epithelium transcriptome.

Background: To determine level, variability and functional annotation of gene expression of the human retinal pigment epithelium (RPE), the key tissue involved in retinal diseases like age-related macular degeneration and retinitis pigmentosa. Macular RPE cells from six selected healthy human donor eyes (aged 63-78 years) were laser dissected and used for 22k microarray studies (Agilent technologies). Data were analyzed with Rosetta Resolver, the web tool DAVID and Ingenuity software.