X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.

Purpose: To describe a novel point mutation in the initiation codon of the XLRS1 gene in a large family and the clinical features of males affected with X-linked juvenile retino-schisis.

Methods: Genealogic investigation and mutation screening of the XLRS1 gene were performed for a 4-generation family consisting of 72 members. Affected males were evaluated clinically between 1986 and 2004 with up to 18 years of follow-up.

Anesthesia monitoring by registered nurses during cataract surgery: assessment of need for intraoperative anesthesia consultation.

Purpose: To assess the frequency and risk factors for intraoperative anesthesia consultation when performing cataract surgery monitored by registered nurses.

Setting: Iowa City Veterans Affairs Medical Center, Iowa City, Iowa, USA.

Methods: This retrospective review was of 270 cataract surgeries performed under local anesthesia from April 1, 2002, to April 1, 2003.

Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene.

Purpose: To describe the clinical features of and identify the mutation responsible for an autosomal dominant pattern dystrophy occurring in a three-generation family.

Methods: Five affected family members underwent clinical examination and additional testing including intravenous fluorescein angiography where indicated. Mutation screening of the peripherin/RDS gene was performed.

X-linked retinoschisis: a clinical and molecular genetic review.

X-linked retinoschisis is a leading cause of macular degeneration in male children. It is characterized by a high degree of clinical variability. Clinical features include a stellate foveal retinoschisis, with or without peripheral retinoschisis.

X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene.

Purpose: To describe the clinical features and identify the disease causing mutation in a family with X-linked retinoschisis.

Design: Cohort study.

Methods: Genealogical investigation and mutation screening of the XLRS1 gene were performed in a four generation family of Icelandic ancestry.

Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene.

Purpose: To describe the clinical features and identify the mutation responsible for an autosomal dominant macular degeneration occurring in a four-generation family.

Methods: Family members underwent clinical examination and genealogical characterization. Mutation screening of the ELOVL4 gene was performed.