Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

Purpose: To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases.

Methods: Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes.

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Purpose: Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and photoaversion. Five genes are known causes of ACHM. The present study took steps toward performing a trial of gene therapy in ACHM by characterizing the genetics of ACHM in Israel and the Palestinian Territories and analyzing retinal function and structure in CNGA3 ACHM patients from the Israeli-Palestinian population and US patients with other origins.

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

Purpose: The Israeli and Palestinian populations are known to have a relatively high level of consanguineous marriages, leading to a relatively high frequency of autosomal recessive (AR) diseases. Our purpose was to use the homozygosity mapping approach, aiming to prioritize the set of genes and identify the molecular genetic causes underlying AR retinal degenerations in the Israeli and Palestinian populations.

Methods: Clinical analysis included family history, ocular examination, full-field electroretinography (ERG), and funduscopy.

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Objective: To study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population.

Design: Case series.

Participants: Patients with cone-dominated diseases and unaffected relatives were included.

Refractive profile in oculocutaneous albinism and its correlation with final visual outcome.

Purpose: To evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there is any correlation between refractive errors and final visual outcome in this population.

Patients/methods: This is a retrospective study of 132 albino patients, ranging in age from 0.5 to 35 years.

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Objectives: To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families.

Methods: Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise.