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Iridocorneal Endothelial Syndrome

Key Concepts Iridocorneal endothelial syndrome (ICE) is a disorder of the corneal endothelium manifested by abnormal endothelial cell formation and a proliferating membrane that may overlie the endothelium, chamber angle, and iris. The etiology of ICE syndrome is unknown, although viral associations have been reported. ICE syndrome may present with any of three clinically noticeable forms: iris nodules (iris nevus and Cogan-Reese syndromes), corneal endothelial abnormality…

Noninflammatory Ectatic Disorders

Key Concepts Keratoconus should be suspected in a young person whose eyes cannot be refracted to 20/20 or requires multiple changes of glasses. Atopy, Ehlers-Danlos syndrome, Down syndrome, Leber congenital amaurosis, and eye rubbing are associated with keratoconus. Thinning at the apex of corneal protrusion is the hallmark of keratoconus. Inferior steepening, superior flattening, skewing of the radial axes, decentered corneal thinning, and islands of anterior…

Descemet Membrane and Endothelial Dystrophies

Key Concepts Posterior polymorphous corneal dystrophy (PPCD), characterized by endothelial vesicles, is often asymptomatic. Fuchs endothelial corneal dystrophy (FECD) with family history is typically associated with progressive endothelial cell loss, corneal edema, and visual loss. Late-onset FECD manifesting in the fourth decade is most common. The less common early-onset FECD manifests in the first decade of life. Nonfamilial FECD is not always progressive, with some patients…

The Stromal Dystrophies

Key Concepts The distinctive morphologic features of the stromal opacities associated with each of the corneal stromal dystrophies typically allow accurate diagnosis. The genetic basis of the majority of the stromal dystrophies has been identified, indicating that molecular genetic analysis may be used to distinguish between the stromal dystrophies and to differentiate them from degenerative disorders affecting the corneal stroma. Phototherapeutic keratectomy (PTK) is the preferred…

Anterior Corneal Dystrophies

Key Concepts The epithelial corneal dystrophies each have distinguishing morphologic features that allow for accurate clinical diagnosis. Epithelial basement membrane corneal dystrophy (EBMD; map-dot-fingerprint dystrophy) is the most common anterior dystrophy. While some cases are familial, EBMD is considered to be a degeneration or secondary to trauma in the majority of cases. The primary symptoms of epithelial basement membrane corneal dystrophy are blurred vision and recurrent…

Corneal Dystrophy Classification

Key Concepts Corneal dystrophies have classically referred to inherited, bilateral disease without systemic findings, but there are many exceptions to this definition. Epithelial basement membrane dystrophy is most likely a degenerative diseases and is rarely inherited. Corneal dystrophy categories indicate the level of evidence for a particular corneal dystrophy based on clinical information, and identification of causative genetic mutations with category 1 having most evidence and…

Corneal Manifestations of Local and Systemic Therapies

Key Concepts The topical preservative benzalkonium chloride may cause mild to severe ocular surface toxicity. Anesthetic abuse keratopathy includes persistent epithelial defects, ring-shaped infiltrates, and ultimately corneal perforation, even with dilute concentrations for a short duration. Delayed wound healing can occur with the use of most antimicrobials. Topical non-steroidal anti-inflammatory drugs (NSAIDs) can be associated with corneal melting, particularly in the setting of dry eye and…

Ocular Graft-Versus-Host Disease

Key Concepts The prevalence of chronic ocular graft-versus-host disease (oGVHD) may be rising due to the increased number of cases of allogeneic hematopoietic stem cell transplantations (HSCT) performed to treat malignancies. oGVHD is an immune-mediated disease of the ocular surface and the lacrimal gland and can occur in the absence of systemic GVHD. Its clinical spectrum ranges from mild dry eye to vision-threatening inflammation and debilitating…

Corneal and External Ocular Infections in Acquired Immunodeficiency Syndrome

Key Concepts Human immunodeficiency virus has been identified in tears, cornea, and conjunctiva, but to date there have been no reports of human immunodeficiency virus (HIV) transmission in the practice of ophthalmology. There is a broad spectrum of corneal and external ocular disorders that occur in HIV-infected individuals, and they may present with atypical features and have a prolonged or more severe course. Herpes zoster ophthalmicus…

Infectious Disease: Ocular Manifestations

Key Concepts New, emerging diseases frequently have ocular findings. Although most findings are not pathognomonic, ophthalmologists should be aware of these diseases. Many infectious diseases are more frequently seen in travelers or patients from certain geographic areas. History, including country or area of origin, and contact, including activities and pets, are important to understanding causation. Diseases such as leprosy and onchocerciasis may be under better control…

Dermatologic Disorders and the Cornea

Key Concepts The clinician should remember to “think skin” in patients with chronic eyelid/anterior segment ocular disease. Patients with severe psoriasis may benefit from dedicated, interval eye exams. Rosacea is often overlooked as an important cause of ocular disease. Bioassays may become helpful in diagnosing and guiding treatment in rosacea and other dermatologic ocular diseases. Specific causative genetic mutations continue to be discovered in many of…

Endocrine Disease and the Cornea

Key Concepts Diabetes mellitus affects all layers of the cornea, both morphologically and biochemically. The epithelium of diabetics is more prone to damage and recurrent erosions and exhibits delayed healing compared with nondiabetics. Diabetes changes the biomechanical properties of the corneal stroma. The endothelium is under more stress and has decreased reserves in patients with diabetes. Syndromes that feature hypoparathyroidism and associated corneal findings include autoimmune…

Hematologic Diseases and Malignancies

Key Concepts Severe anemia can be detected when discontinuous blood columns are present within the bulbar conjunctival vasculature. β-thalassemia is associated with a decreased tear break-up time and Schirmer testing. Sludging and segmentation of the conjunctival blood vessels (comma sign) is a pathognomic finding of sickle cell disease. Leukemic cells can infiltrate the conjunctiva, iris, and anterior chamber, resulting in glaucoma, spontaneous hyphema, and uveitis. Plasma…

Nutritional Disorders

Key Concepts Vitamin A deficiency is the most important nutritional disorder with respect to the cornea clinically. It is predominantly a disease affecting the poor in developing nations. In the cornea, Vitamin A deficiency is characterized by the presence of Bitot spots, xerosis, and keratomalacia. Vitamin A supplementation is the mainstay of therapy. Other vitamin deficiencies may have some effect on corneal integrity, but evidence is…

Granulomatosis With Polyangiitis and Other Systemic Inflammatory Diseases

Key Concepts Granulomatosis with polyangiitis is an autoimmune vasculitis associated with antibodies to neutrophil cytoplasmic antigens that affects multiple organs, primarily the respiratory and renal systems. Orbital disease is the most common ocular finding of granulomatosis with polyangiitis; with peripheral ulcerative keratitis and scleritis as its most serious anterior segment complications. Inflammatory bowel disease combines chronic, recurrent inflammation of the gastrointestinal tract with various extra-intestinal manifestations.…

Skeletal and Connective Tissue Disorders With Anterior Segment Manifestations

Key Concepts Skeletal and connective tissue disorders frequently involve the anterior segment of the eye and cause corneal, scleral, and/or lenticular abnormalities. Abnormalities can be congenital or acquired. Craniofacial malformations are often associated with shallow orbits and suffer from exposure keratopathy. Subtypes of Ehlers-Danlos syndrome have thin cornea and sclera and are predisposed to rupture of the eye. Patients with Stickler syndrome have very high congenital…

Corneal Manifestations of Metabolic Diseases

Key Concepts Abnormalities in the carbohydrate, lipid, and lipoprotein metabolism can significantly affect the structure and function of the cornea. Treatments addressing the mechanisms of disease offer promising treatment for diabetic patients through recovery of corneal sensation and tear production. The ocular manifestations of dyslipoproteinemias might not affect vision significantly, but rather provide the first clue for a genetic systemic disease and act as an alert…

Peters Anomaly

Key Concepts Peters anomaly is a sporadic condition characterized by a corneal leukoma. Visual prognosis in Peters anomaly is dependent on early clearing of the visual axis; however, penetrating keratoplasty and visual rehabilitation are difficult to implement in these patients. Peters Anomaly Peters anomaly is a rare congenital malformation in which patients are born with varying degrees of central corneal opacification due to defects in the…

Axenfeld-Rieger Syndrome

Key Concepts Axenfeld-Rieger syndrome (ARS) comprises a collection of anterior segment disorders that are complicated by secondary glaucoma in more than 50% of cases. ARS is an umbrella term used to describe a spectrum of anterior segment findings including posterior embryotoxon, iris hypoplasia, corectopia, and pseudo polycoria. Associated systemic abnormalities involve midline structures. ARS is a dominantly inherited disease with genetic heterogeneity. Mutations in FOXC1 and…

Developmental Corneal Anomalies of Size and Shape

Key Concepts Developmental abnormalities of the cornea can occur as isolated defects or in association with other ocular or systemic anomalies. Megalocornea must be distinguished from buphthalmos due to congenital glaucoma, in which other features such as elevated intraocular pressure, Haab striae, optic disk changes, and enlargement of the entire globe are also present. Microcornea is diagnosed when the horizontal corneal diameter is less than or…