Ento Key

BASICS DESCRIPTION • Also known as Anderson–Fabry disease and α-galactosidase A deficiency, Fabry disease is a rare, X-linked recessive lysosomal storage disorder that, when left untreated, is potentially fatal. Defect…

BASICS DESCRIPTION • Fetal Alcohol Syndrome (FAS) is the most severe end on the continuum known as Fetal Alcohol Spectrum Disorders (FASD), an umbrella term that encompasses the adverse effects…

BASICS DESCRIPTION • Epiretinal membranes are also known as macular pucker, cellophane maculopathy, and surface wrinkling retinopathy. • It is a thin layer of tissue found on the surface of…

Kathleen RomeroAlex V. Levin BASICS DESCRIPTION • Craniofacial syndromes are divided into craniosynostoses and clefting syndromes. • Craniosynostosis describes premature sutural fusion. Craniostenosis is the result. • Simple craniosynostosis refers…

BASICS DESCRIPTION Choroideremia (CHM) is a progressive, X-linked condition that results in slow degeneration of the retinal pigment epithelium (RPE), choroid, and photoreceptors. Pediatric Considerations Although many patients with choroideremia…

Steven T. Bailey BASICS DESCRIPTION • Cytomegalovirus (CMV) retinitis is a full thickness retinal necrosis resulting in progressive vision loss. • CMV is an ubiquitous herpes virus. • Retinitis occurs…

BASICS DESCRIPTION • An inflammatory condition, usually mild and self-limiting, although it can be recurrent. – Usually affects females, usually seen in young adults, up to 30% may have underlying…

Lov Sarin BASICS DESCRIPTION Amaurosis fugax is defined as transient monocular visual loss secondary to ischemia or vascular insufficiency. EPIDEMIOLOGY Incidence 50,000 new cases a year in the United States…

BASICS DESCRIPTION • Displacement of the lens. • This may be divided into subluxed lens, which is partially displaced, and luxated or dislocated lens, which is completely displaced. • May…

BASICS DESCRIPTION Epiphora, or tearing, represents an imbalance between tear production and tear drainage. The lacrimal gland and accessory tear glands produce tears while the nasolacrimal drain carries the tears…