IN the complete form of this familial syndrome males suffer from corneal dystrophy, congenital ichthyosis (ichthyosis simplex), and allergic manifestations such as asthma and hay fever. The complete syndrome was noted in two patients. Other male members had corneal dystrophy and allergy, corneal dystrophy and ichthyosis, ichthyosis alone, ichthyosis and allergy, or asthma (Fig. 1). Except for t...

The purpose of present study is to discuss the clinical findings and management options of posterior polymorphous corneal dystrophy and to review the current literature on this rare entity. We report a case of asymptomatic posterior polymorphous corneal dystrophy. Posterior polymorphous corneal dystrophy is a rare, familial clinical entity with subtle findings that are important to recognize, a...

OBJECTIVE To report a novel de novo vitelliform macular dystrophy (VMD2) mutation in a patient with Best macular dystrophy. METHODS Best-corrected visual acuity, dilated fundus examination, and electro-oculography were performed in a patient with Best macular dystrophy and his parents. Both the patient and his parents also had blood samples drawn, and their DNA was analyzed by direct genomic ...

PURPOSE To characterize the macular anatomy of retinal dystrophy eyes using high-speed, high-resolution, Fourier-domain optical coherence tomography (FD-OCT). DESIGN Case-control study. METHODS Retinal dystrophy patients and normal age- and gender-matched controls underwent FD-OCT imaging using the RTVue (Optovue Inc., Fremont, California, USA). Vertical and horizontal 8-mm scans of 1024 li...

Alport Syndrome is a hereditary disease that is caused by a gene mutation and affects the production of collagen in basement membranes; this condition causes hemorrhagic nephritis associated with deafness and ocular changes. The X-linked form of this disease is the most common and mainly affects males. Typical ocular findings are dot-and-fleck retinopathy, anterior lenticonus, and posterior pol...

Purpose: To study the effect of phototherapeutic keratectomy (PTK) in the treatment of various superficial corneal pathologies. Methods: We performed a nonrandomized, prospective study on patients who presented with superficial corneal disease and/or poor vision. Fifty eyes were included; recurrent corneal erosion (RCE): 25 eyes, Salzmann’s nodular degeneration: 9 eyes, spheroidal degeneration:...

Corneal biopsy specimens from 3 patients with Cogan's microcystic corneal dystrophy were examined by light and electron microscopy. Specimens were taken from corneas showing microcysts, geographic or map-like areas, and refractile striae. In all samples there is a bilaminate subepithelial layer of fibrogranular material, the friability of which is probably the basis for recurrent erosions in th...

True vitelliform dystrophy rarely appears in the adult population. We describe 10 cases in adults of bilateral vitelliform lesions clinically mistaken for Best's disease. Fluorescein angiography is a useful tool in distinguishing this dystrophy from Best's disease or other diseases. The angiographic findings suggest pigment epithelial disease. Adult vitelliform degeneration may lead to dry atro...

A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial...