Ocular Manifestations of Systemic Disease



Ocular Manifestations of Systemic Disease


Deborah Pavan-Langston



I. Use of Tabulated Information

The eyes are frequently involved in diseases affecting the rest of the body. Ocular manifestations in certain multisystem disorders may offer diagnostic clues to aid in identifying the systemic disease. In other instances, the eye involvement may be subtle enough to avoid detection unless the clinician knows to look for it. Once the diagnosis is made, the major element in therapy of the ophthalmic aspect of the systemic disease is often the treatment and cure of the primary disease itself. This is not always the case, however, and an ophthalmic diagnosis may be necessary to determine the cause of local eye involvement, which may require different management. This chapter provides the clinician with a quick reference for symptoms and signs of ocular disorders associated with the more common systemic diseases. Most are discussed in detail in the appropriate chapters. When dealing with cases in which patients have eye symptoms without a known systemic disease, the clinician should refer those individuals to ophthalmologists for a specific ocular diagnosis. If the patient’s systemic disease is known, that individual should be referred to an ophthalmologist mainly for confirmation of the diagnosis and treatment of the ocular component. This chapter is divided into two parts: The first outlines major ocular regions affected by systemic diseases and lists, in part, the specific diseases affecting each region. The second part is a series of tables, each devoted to a major systemic disease. The specific disease entities are listed within the larger classification with their ocular manifestations. Associated findings are indicated for each condition. Chapters covering these and additional diseases are listed below each table.


II. Ocular Regions Related to Systemic Diseases



  • Cornea. The cornea provides a unique opportunity for observation and diagnosis of systemic diseases and abnormal metabolic processes. It is useful to consider the physical and morphologic properties of the cornea to understand how systemic diseases can affect the cornea and conjunctiva.



    • Diseases of the skin and mucous membranes. The corneal epithelium is of ectodermal embryologic origin. Systemic skin and mucous membrane disorders also affect the cornea. Corneal and conjunctival bullae, severe inflammation, and sloughing of the epithelium may occur in the following diseases:



      • Atopic dermatitis.


      • Cicatricial pemphigoid.


      • Epidermolysis bullosa.


      • Erythema multiforme (Stevens-Johnson syndrome).


      • Ichthyosis.


      • Pemphigus.


      • Phacomatoses.


      • Psoriasis.


      • Xeroderma pigmentosa.


    • Disorders of collagen metabolism. The rest of the cornea is of mesodermal embryologic origin. Disorders of collagen metabolism may affect the cornea, possibly inducing keratoconus changes. Two of the most prominent are



      • Ehlers-Danlos syndrome.


      • Marfan syndrome.



    • Collagen diseases. Much of the cornea is made of collagen and mucopolysaccharide ground substance. Systemic diseases affecting collagen may indirectly affect the cornea by way of autoantibodies in the circulation. Marked limbal and marginal corneal ulceration may result. Six systemic diseases affecting collagen that commonly involve the cornea are



      • Dermatomyositis.


      • Periarteritis nodosa.


      • Relapsing polychondritis


      • Rheumatoid arthritis.


      • Wegener granulomatosis.


      • Systemic lupus erythematosus.


    • Metabolic diseases. The cornea stores materials made in excess by the body. Damage to the cornea may occur indirectly by accumulation of metabolic products. Systemic metabolic diseases that produce elevated levels of certain precursors and that may opacify the cornea, producing band keratopathy or lipid keratopathy, are



      • Amyloidosis.


      • Cystinosis.


      • Glycogen storage disease.


      • Gout.


      • Hyperlipidemia.


      • Mucopolysaccharidoses (Hurler, Scheie, Hurler-Scheie, Hunter, Sanfilippo, Morquio Maroteaux-Lamy syndromes).


      • Hypervitaminosis D.


      • Wilson’s disease.


    • Environmentally caused disorders. The cornea is the most anterior part of the eye, exposed to environmental harm. Exposure keratitis and infections may occur where there is poor protective function of the cornea. Environmental hazards include



      • Exposure (drying, radiant and ionizing energy).


      • Infectious agents (bacteria, viruses, fungi, and parasites).


  • Cataracts. Cataracts are associated with many systemic diseases. Lens fibers opacify as a response to alterations of the physical and chemical milieu within the semipermeable lens capsule. The exact type of cataract that forms may be distinct from the usual senile lens opacities and may be characteristic for the specific disease entity. Cataracts may be associated with the following systemic diseases:



    • Chromosomal disorders



      • Alport syndrome.


      • Cri du chat syndrome.


      • Conradi syndrome.


      • Crouzon syndrome.


      • Myotonia dystrophica.


      • Patau syndrome.


      • Schmidt-Fraccaro syndrome.


      • Trisomy 18 (Edwards syndrome).


      • Turner syndrome.


    • Diseases of the skin and mucous membranes



      • Atopic dermatitis.


      • Basal-cell nevus syndrome.


      • Ichthyosis.


      • Pemphigus.


    • Metabolic and nutrition diseases



      • Aminoaciduria (Lowe syndrome).


      • Diabetes mellitus.


      • Fabry disease.


      • Galactosemia.


      • Homocystinuria.



      • Hypervitaminosis D.


      • Hypoparathyroidism.


      • Hypothyroidism.


      • Mucopolysaccharidoses.


      • Wilson disease.


    • Infectious diseases



      • Congenital



        • Congenital herpes simplex.


        • Congenital syphilis.


        • Cytomegalic inclusion disease.


        • Rubella.


      • Others



        • Cysticercosis.


        • Leprosy.


        • Onchocerciasis.


        • Toxoplasmosis.


    • Toxic substances introduced systemically



      • Corticosteroids.


      • Haloperidol.


  • Glaucoma is not exclusively the result of a hereditary predisposition (as in primary glaucoma). Secondary glaucomas may arise as complications of the systemic disease itself or from its therapy. Systemic diseases that may cause glaucoma are



    • Hematologic and cardiovascular diseases



      • Carotid—cavernous fistulas.


      • Leukemia.


      • Sickle cell disease.


      • Waldenström macroglobulinemia.


    • Collagen diseases



      • Dermatomyositis.


      • Periarteritis nodosa.


      • Relapsing polychondritis.


      • Rheumatoid arthritis.


      • Wegener granulomatosis.


      • Systemic lupus erythematosus.


    • Diseases of skin and mucous membranes



      • Atopic diseases (corticosteroid use).


      • Nevus of Ota.


    • Infectious diseases



      • Congenital rubella.


      • Herpes simplex or zoster.


      • Onchocerciasis.


    • Metabolic diseases



      • Amyloidosis.


      • Marchesani syndrome.


    • Musculoskeletal diseases



      • Conradi syndrome.


      • Osteogenesis imperfecta.


    • Neoplastic diseases: Metastasis to the trabecular meshwork.


    • Phacomatoses



      • Neurofibromatosis.


      • Sturge-Weber syndrome.


    • Pulmonary diseases: asthma and emphysema (corticosteroid use).


    • Renal diseases



      • Lowe syndrome (aminoaciduria).


      • Wilms tumor.


      • Renal transplantation (corticosteroid use).


    • Toxic substances



      • Amphetamines.



      • Anticholinergics.


      • Corticosteroids.


      • Hexamethonium.


      • Reserpine.


      • Tricyclic antidepressants.


    • Unknown etiology



      • Sarcoidosis.


  • Uveitis resulting from systemic diseases presents a difficult diagnostic problem. Inflammation of the iris, ciliary body, and choroid may be caused by a wide variety of diseases.



    • Systemic allergic diseases: Hay fever.


    • Cardiovascular diseases: Endocarditis (subacute bacterial).


    • Collagen diseases



      • Ankylosing spondylitis.


      • Periarteritis nodosa.


      • Reiter syndrome.


      • Relapsing polychondritis.


      • Rheumatoid arthritis.


      • Systemic lupus erythematosus.


      • Wegener granulomatosis.


    • Diseases of skin and mucous membranes



      • Acne rosacea.


      • Behçet’s disease.


      • Erythema multiforme (Stevens-Johnson syndrome).


      • Psoriasis.


      • Vogt-Koyanagi-Harada (VKH) syndrome.


    • Metabolic diseases



      • Amyloidosis.


      • Gout.


    • Gastrointestinal (GI) and nutritional diseases



      • Regional enteritis.


      • Peptic ulcer disease.


      • Ulcerative colitis.


    • Neoplastic disease



      • Lymphoma.


      • Reticulum cell sarcoma.


    • Toxic substances



      • Sulfonamides.


      • Reserpine.


    • Infectious diseases



      • Brucellosis.


      • Gonorrhea.


      • Leprosy.


      • Onchocerciasis.


      • Tuberculosis.


      • Toxoplasmosis.


      • Viral infections (Herpes simplex or zoster, cytomegalovirus, human immunodeficiency virus [HIV]).


    • Unknown etiology



      • Sarcoidosis.


  • Retina. The retina is vulnerable to systemic diseases that affect specific retinal tissue elements, such as retinal vessels, choroid (microaneurysms, hemorrhages, exudates, hemangiomas, choroiditis), neural tissue (retinitis, exudative retinal detachment, selective rod and cone destruction), and retinal pigment epithelium (loss of pigment, accumulation of toxic substances). The systemic diseases affecting the retina are



    • Cardiovascular diseases



      • Aortic arch syndrome (Takayasu syndrome).


      • Endocarditis.



      • Hereditary telangiectasia (Rendu-Osler-Weber syndrome).


      • Hypertension and toxemia of pregnancy.


      • Occlusive vascular disease.


    • Collagen diseases



      • Dermatomyositis.


      • Periarteritis nodosa.


      • Reiter syndrome.


      • Systemic lupus erythematosus.


      • Temporal arteritis.


      • Wegener granulomatosis.


    • Chromosomal disorders



      • Cri du chat syndrome.


      • Schmidt-Fraccaro syndrome.


      • Turner syndrome.


      • Trisomy 18 (Edwards syndrome).


      • Deletion of chromosome 18.


      • Trisomy 13 (Patau syndrome).


      • Ring-D chromosome.


    • Endocrine diseases



      • Diabetes mellitus.


      • Cushing syndrome.


      • Hyperthyroidism.


      • Hypothyroidism.


      • Hypoparathyroidism.


    • Diseases of skin and mucous membranes



      • Behçet disease.


      • Ichthyosis.


      • Incontinentia pigmenti.


      • Pseudoxanthoma elasticum.


      • VKH syndrome.


    • GI and nutritional diseases



      • Regional enteritis.


      • Vitamin A deficiency.


    • Hematologic diseases



      • Anemias.


      • Leukemias.


      • Polycythemia vera.


      • Sickle cell disease.


      • Thrombocytopenia.


      • Waldenström macroglobulinemia.


    • Infectious diseases



      • Candida retinitis.


      • Histoplasmosis.


      • Parasites.


      • Septicemia.


      • Viral infections.


      • Tuberculosis.


      • HIV.


      • Herpes simplex or zoster.


      • Cytomegalovirus.


    • Phacomatoses: Most affect the retina.


    • Pulmonary diseases



      • Bronchiectasis.


      • Cystic fibrosis.


      • Pneumonia.


    • Renal diseases



      • Alport syndrome.



      • Medullary cystic disease.


      • Nephrotic syndrome.


    • Metabolic diseases



      • Albinism.


      • Amyloidosis.


      • Cystinosis.


      • Fabry disease.


      • Gaucher disease.


      • Niemann-Pick disease.


      • Lipidoses.


    • Neoplastic diseases: Most can affect the retina.


    • Unknown etiology



      • Sarcoidosis.


III. Specific Systemic Diseases and their Ocular Manifestations

Tables 15.1,15.2,15.3,15.4,15.5,15.6,15.7,15.8,15.9,15.10,15.11,15.12,15.13,15.14,15.15,15.16,15.17 list several of the more important systemic disorders that may affect the eye, their clinical ocular manifestations, the clinical and laboratory tests indicated to detect suspected underlying systemic disease, differential diagnosis, and indications for referral to a specialist. Many systemic conditions, along with others not included in the tables, are also listed in the index or listed in the footnotes of each pertinent table for text page location. The systemic diseases that may affect the eye are

Tags:
Jun 12, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Ocular Manifestations of Systemic Disease

Full access? Get Clinical Tree
Get Clinical Tree app for offline access