METHODS. Patients were enrolled from the ABCA4 disease database at Columbia University or by inquiry from collaborating physicians. Only patients homozygous for the G1961E mutation were enrolled. The entire ABCA4 gene open reading frame, including all exons and flanking intronic sequences, was sequenced in all patients. Phenotype data were obtained from clinical history and examination, fundus ...

We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with vasculitis and optic disc edema. Clinical examination included fundus and autofluorescence photo...

Eales disease, first described by Henry in 1880, constitutes an idiopathic occlusive retinal vasculopathy apparently multifactorial, and with a likely immunologic origin, which mainly affects the peripheral retina bilaterally young patients predominantly males. Most cases are asymptomatic early stages of disease however, course floaters blurry vision arise hemorrhages lead to significant visual...

OBJECTIVES This study was designed to investigate the value of 3-D optical coherence tomography (3-D OCT) combined with fundus photochromy in the diagnosis of acute central serous chorioretinopathy (CSCR). SUBJECTS AND METHODS 3-D OCT and fundus photochromy were performed on 30 patients (36 eyes) with acute CSCR. Fluorescein angiography (FA) was also performed to confirm the diagnosis and to ...

PURPOSE To characterize and report the phenotype of a Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy (NCMD). METHODS Five members of a Korean family were examined clinically and underwent fundus photography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, full field electroretinogram (ERG...

A 16-year-old Caucasian female with a 6-month history of decreased visual acuity and metamorphopsia in the left eye is reported. The fundus of the left eye revealed a well defined lesion in the macula region. Diagnosis of choroidal osteoma was established using spectral domain optical coherence tomography (OCT), fundus fluorescein angiography (FFA), indocyanine green angiography (ICG), and B-sc...

A 26 years old female patient was examined twenty-four hours after observing laser-induced plasma formation in a process of nanoparticle production complaining of bilateral central scotoma. The ophthalmologic evaluation included dilated fundus observation, fluorescein angiography, and optical coherence tomography (OCT). In the first assessment, visual acuity was 20/20 in the right eye and 20/25...

PURPOSE To report the clinical and paraclinical features of two patients with orange- colored choroidal metastases in whom the primary cancers have not previously been associated with such lesions. CASE REPORT Orange-colored choroidal lesions were detected on the fundus examination of one patient with metastatic small cell neuroendocrine tumor of the larynx and oropharynx, and in another subj...

BACKGROUND Peripapillary loops of venous origin are extremely rare. CASE A 55-year-old woman was referred to us for further examination of peripapillary vascular abnormalities. OBSERVATIONS Fundus examination and fluorescein angiography clearly showed a venous and an arterial peripapillary loop in both her right and left fundi. The venous loop in the right eye was in a large hairpin configu...

A prospective study of the peripheral retinal vasculature in a Jamaican cohort of subjects with sickle cell disease has been in progress over a period of 12 years using fluorescein angiography. Various vascular patterns were identified but their significance was unclear since no comparable records were available in subjects of a similar age with normal (AA) haemoglobin genotype. Fluorescein ret...