PURPOSE To elucidate the molecular basis of oculocutaneous albinism with variable expressivity in a family from The Netherlands in which no consanguinity was reported. METHODS Three affected family members were screened for mutations in tyrosinase (TYR) and the pink-eye-dilution gene (P) by using SSCP. The melanocortin receptor gene (MC1R) and amplimers of P showing an aberrant banding patter...

OBJECTIVE To assess the Doppler-echocardiographic changes in normotensive patients with type II diabetes mellitus, in the presence or absence of signs of microangiopathy. METHODS Patients with type II diabetes mellitus were submitted to funduscopy contrasted with fluorescein and dosage of microalbuminuria for diagnose of microangiopathy and divided into two groups: DMII (patients without micr...

PURPOSE To show that chiasmal hypoplasia or aplasia need not be an isolated developmental anomaly and to examine the spectrum of associated clinical findings to explore the possibility that these patients may represent a phenotypic manifestation of a developmental gene anomaly. DESIGN An observational case series. PARTICIPANTS Five infants, between several weeks and 7 months of age, in whom...

OBJECTIVE To review the natural history and ocular and systemic adverse effects of patients taking hydroxychloroquine sulfate who attended an ophthalmic screening program. DESIGN Retrospective study. RESULTS Records of 262 patients who were taking hydroxychloroquine and screened in the Department of Ophthalmology were reviewed. Of the 262 patients, 14 (18%) of 76 who had stopped treatment a...

OBJECTIVE The objective of this study was to use a questionnaire to evaluate knowledge concerning diabetic retinopathy among the physicians present at the 12th Latin American Congress on Diabetes held in São Paulo, Brazil, September 2004. METHODS A questionnaire about their experience and management of patients with diabetes mellitus and the ophthalmologic examination was administered to 168 ...

OBJECTIVE To describe an unusual cluster of multiple evanescent white dot syndrome (MEWDS) encountered within a 3-month period. METHODS This retrospective observation study is comprised of seven patients who presented with MEWDS in a 3-month period in central Israel. Data were collected from patients' medical records on clinical, multimodal imaging, and viral serology findings. RESULTS Six ...

BACKGROUND Posterior microphthalmos combined with acquired retinoschisis is a rare entity. This report presents a case of acquired retinoschisis in a patient with posterior microphthalmos and discusses the management for such disease. The patient exhibited acquired peripheral retinal schisis in both eyes. CASE PRESENTATION The patient presented with a fix scotoma and decrease in visual acuity...

BACKGROUND Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12 genes. Our aim is to identify additional USH-related genes. METHODS Clinical examination included visual acuity test, funduscopy and electroretinography. Genetic analysis included homozygosity mapping and whole exome sequencin...

BACKGROUND The purpose of this study was to investigate the clinical characteristics of a hyporeflective space between hyperreflective materials in pigment epithelial detachment (PED) and Bruch's membrane in neovascular age-related macular degeneration (AMD) using spectral-domain optical coherence tomography (SD-OCT) or swept source optical coherence tomography (SS-OCT). METHODS Among 223 pat...

A 7-year-old girl of second degree consanguineous parents, presented with an 8 months history of intermittent exotropia of the left eye. Cycloplegic refraction was -0.25.-0.50×165o and -3.00.0.50×20o in the right and left eyes respectively. An initial objective assessment of the visual function showed a best corrected visual acuity of 12/10 in the right eye and 6/10 in the left eye. Fundoscopy ...