Ophthalmological manifestations of systemic diseases

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This document outlines various systemic diseases that can cause ocular pathologies and lists 11 categories of diseases: 1) connective tissue diseases; 2) spondyloarthropathies; 3) digestive-inflammatory bowel disease; 4) multisystem noninfectious diseases; 5) infectious; 6) mucocutaneous; 7) cardiovascular; 8) endocrine-metabolic; 9) myopathies; 10) neurologic diseases; and 11) haematological disease. For each category, specific diseases are named and briefly described in relation to their ocular manifestations. Common ocular symptoms seen in autoimmune diseases include keratoconjunctivitis sicca, scleritis, uveitis,

INVOLVED SYSTEMIC
DISEASES
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.

Connective Tissue Diseases
Spondyloarthropathies
Digestive-Inflammatory Bowel Disease
Multisystem noninfectious diseases
Infectious
Mucocutaneous
Cardiovascular
Endocrine-metabolic
Myopathies
Neurologic Diseases
Haematological Disease

Basic ocular symptom in
autoimmune diseases
• Keratoconjunctivitis sicca
• Scleritis

• Scleromalacia

• Nodular
• No nodular

• Uveitis. Vasculitis
• PUK. Peripheral Ulcerative Keratitis
• Cataract formation

Juvenile Idiopathic Arthritis
•

Definition

(Revisión ILAR 2001.Edmonton)

Idiopathic Arthritis in patients younger than 16 years and lasts at least 6 weeks.

Oligo or pauciarticular
Polyarticular RF + /
RFPsoriatic
Enthesitis

•

Classification

•

Risk factor for uveitis
Early onset
female
ANA +
oligoarticular
HLA-DR5

Juvenile Idiopathic Arthritis

Anti-TNF-α drugs

PATOLOGÍA OCULAR EN
ENFERMEDADES
SISTÉMICAS
1.- Enfermedades del tejido conjuntivo
2.- Espondiloartropatías
3.- Digestivo-Enfermedad Inflamatoria Intestinal
4.- Enfermedades multisistémicas no infecciosas
5.- Infecciosas
6.- Mucocutáneas
7.- Cardiovasculares
8 .- Endocrino-Metabolopatías
9.- Miopatías
10.- Neurologícas
11.- Hematológicas

Heerfordt-Waldenstrom syndrome: Uveo-parotid fever:
1.Uveitis
2.Parotitis
3.Fever
Sometimes… facial palsy

Behçet disease

Criteria for Behçet's disease:
Mouth sores (oral ulcers) at least 3 times in 12 months
Any 2 of the following:
•Recurring genital sores/ulcers
•Uveitis
•Skin: Pustules or erythema nodosum
•Positive pathergy (skin prick test)

Syndrome acquired immunodeficiency (SAID)

Neurofibromatosis type I, Von
Recklinghausen

Sturge-Weber syndrome or Encephalotrigeminal
angiomatosis

Masquerade symdrome

Imagen cedida por Dr. España

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Ophthalmological manifestations of systemic diseases

1. Ocular pathologies in systemic diseases

2. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

3. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

4. Basic ocular symptom in autoimmune diseases • Keratoconjunctivitis sicca • Scleritis • Scleromalacia • Nodular • No nodular • Uveitis. Vasculitis • PUK. Peripheral Ulcerative Keratitis • Cataract formation

5. Rheumatoid arthritis

6. Juvenile Idiopathic Arthritis • Definition (Revisión ILAR 2001.Edmonton) Idiopathic Arthritis in patients younger than 16 years and lasts at least 6 weeks. Oligo or pauciarticular Polyarticular RF + / RFPsoriatic Enthesitis • Classification • Risk factor for uveitis Early onset female ANA + oligoarticular HLA-DR5

7. Juvenile Idiopathic Arthritis Anti-TNF-α drugs

8. Systemic Lupus Erythematosus (Lupus)

9. Wegener Granulomatosis

10. Sjogren syndrome

11. Dryness findings:

12. Horton arteritis. Giant cell arteritis

13. Marfan syndrome

14. Elastic Pseudoxanthoma

15. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

16. Ankylosing spondylitis

17. Reiter syndrome/Reactive arthritis

18. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

19. Digestive-Inflammatory Bowel Disease

20. PATOLOGÍA OCULAR EN ENFERMEDADES SISTÉMICAS 1.- Enfermedades del tejido conjuntivo 2.- Espondiloartropatías 3.- Digestivo-Enfermedad Inflamatoria Intestinal 4.- Enfermedades multisistémicas no infecciosas 5.- Infecciosas 6.- Mucocutáneas 7.- Cardiovasculares 8 .- Endocrino-Metabolopatías 9.- Miopatías 10.- Neurologícas 11.- Hematológicas

21. Sarcoidosis

22. Heerfordt-Waldenstrom syndrome: Uveo-parotid fever: 1.Uveitis 2.Parotitis 3.Fever Sometimes… facial palsy

23. Behçet disease Criteria for Behçet's disease: Mouth sores (oral ulcers) at least 3 times in 12 months Any 2 of the following: •Recurring genital sores/ulcers •Uveitis •Skin: Pustules or erythema nodosum •Positive pathergy (skin prick test)

24. Vogt Koyanagi Harada syndrome

25. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

26. Syndrome acquired immunodeficiency (SAID)

27. Tuberculosis

28. 5.- INFECCIOSAS

29. Toxoplasmosis

30. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

31. Penfigoid syndromes

32. Stevens-Johnson syndrome

33. Atopic eczema

34. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

35. Arterial hypertension

36.

37. Carotid stenosis

38. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

39. Diabetes mellitus

40. Graves Disease

41. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

42. Miastenia gravis

43. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

44. Multiple Sclerosis

45. Neurofibromatosis type I, Von Recklinghausen

46. Tuberous sclerosis. Bourneville disease

47.

48. Sturge-Weber syndrome or Encephalotrigeminal angiomatosis

49. INVOLVED SYSTEMIC DISEASES 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. Connective Tissue Diseases Spondyloarthropathies Digestive-Inflammatory Bowel Disease Multisystem noninfectious diseases Infectious Mucocutaneous Cardiovascular Endocrine-metabolic Myopathies Neurologic Diseases Haematological Disease

50. Leucemia

51. Leukemic retinopathy

52. Masquerade symdrome Imagen cedida por Dr. España

Editor's Notes

Joint involvement consists of swelling or tenderness upon examination. The presence of synovitis may be confirmed on imaging studies. Points are allocated as follows: 1 large joint (ie, shoulders, elbows, hips, knees, ankles) = 0 points 2-10 large joints = 1 point 1-3 small joints (with or without involvement of large joints) (ie, MCP, PIP, second-fifth MTP, thumb IP, and wrist joints ) = 2 points 4-10 small joints (with or without involvement of large joints) = 3 points More than 10 joints (at least 1 small joint, plus any combination of large and additional small joints or joints such as temporomandibular, acromioclavicular, sternoclavicular, etc) = 5 points At least 1 serology test result is needed for classification. Points are allocated as follows: Negative RF and negative ACPA = 0 points Low-positive RF or low-positive ACPA = 2 points High-positive RF or high-positive ACPA = 3 points
Petty RE, Southwood TR, Manners P. International. League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001.J Rheumatol. 2004 Feb;31(2):390-2. Definición: Artritis de etiología desconocida que aparece en paciente menor de 16 años y perdura al menos 6 semanas. Oligoartritis extendida. Artritis 1-4 articulaciones Exclusiones:historia familiar de psoriasis o FR +. Poliartritis FR negativo. Artritis ≥5 articulaciones 6 primeros meses, y el FR-3 meses. Se refiere a pacientes Exclusión fundamental es el FR positivo. Poliartritis FR positivo. Artritis ≥5 articulaciones 6 primeros meses, y el FR+3 meses. Exclusión, historia familiar de psoriasis. Artritis psoriásica. Artritis + psoriasis o historia familiar + dactilitis + alteraciones en las uñas (punteado u onicólisis). La exclusión fundamental es el FR positivo. Artritis relacionada con entesitis. Artritis + entesitis/artritis + 2: Lumbalgia “inflamatoria” Artralgia sacroilíaca HLA-B27+ uveítis historia familiar Exclusiones:FR positivo o ANA positivo Artritis no clasificable
Arth
It is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva Sjögren's syndrome can exist as a disorder in its own right (Primary Sjögren's syndrome) or it may develop years after the onset of an associated rheumatic disorder such as rheumatoid arthritis, systemic lupus erythematosus, scleroderma, primary biliary cirrhosis etc. (Secondary Sjögren's syndrome). Sicca symptoms (dry eyes and dry mouth) Parotitis Patients with Sjögren syndrome may have a history of recurrent parotitis, often bilateral. Although in some patients the parotid glands become so large that the patients report this as a problem, more often the examining physician discovers them. Cutaneous symptoms Nonvasculitic cutaneous manifestations in Sjögren syndrome include dryness, eyelid dermatitis, pruritus, and erythema annulare.[31] Cutaneous vasculitis, such as palpable purpura, develops in some patients with Sjögren syndrome, especially those with hypergammaglobulinemia or cryoglobulinemia.[31, 32] Raynaud phenomenon is observed in approximately 20% of patients. Pulmonary symptoms Patients with Sjögren syndrome can develop dryness of the tracheobronchial mucosa (xerotrachea), which can manifest as a dry cough.[33] Less often, patients develop dyspnea from an interstitial lung disease that is typically mild.[33, 34]Patients may develop recurrent bronchitis or even pneumonitis (infectious or noninfectious). Gastrointestinal symptoms Dryness of the pharynx and esophagus frequently leads to difficulty with swallowing (deglutition), in which case patients usually describe food becoming stuck in the upper throat.[33] Lack of saliva may lead to impaired clearance of acid and may result in gastroesophageal reflux and esophagitis. Abdominal pain and diarrhea can occur. Rarely, patients develop acute or chronic pancreatitis, as well as malabsorption due to pancreatic insufficiency. However, caution is advised when interpreting laboratory results because an elevated amylase level may arise from the parotid gland. In patients with gastritis, Helicobacter pylori infection should be sought because of its association with gastric mucosa-associated lymphoid tissue lymphomas.[35] Patients with Sjögren syndrome are at increased risk for delayed gastric emptying, which can cause early satiety, upper abdominal discomfort, nausea, and vomiting.[36] Cardiac symptoms Pericarditis and pulmonary hypertension, with their attendant symptomatology, can occur in Sjögren syndrome.[37] Orthostatic symptoms related to dysfunction of autonomic control of blood pressure and heart rate is associated with increased severity of Sjögren syndrome.[38] Neurologic symptoms The occurrence of central nervous system (CNS) and spinal cord involvement in Sjögren syndrome is estimated by various studies to be 8-40%, with manifestations including myelopathy, optic neuropathy, seizures, cognitive dysfunction, and encephalopathy.[24, 39, 40] Attempts must be made to distinguish other causes of these symptoms, including concomitant SLE, multiple sclerosis, cerebrovascular disease, and Alzheimer disease. Sensory, motor, or sensorimotor peripheral neuropathy, often subclinical, can be detected in up to 55% of unselected patients with Sjögren syndrome.[41]Symptoms of distal paresthesias may be present. Cranial neuropathies can develop, particularly trigeminal neuropathy or facial nerve palsy. Mononeuritis multiplex should prompt a search for a vasculitis. Progressive weakness and paralysis secondary to hypokalemia due to underlying renal tubular acidosis can occur and is potentially treatable.[42] Renal symptoms Renal calculi, renal tubular acidosis, and osteomalacia, nephogenic diabetes insipidus, and hypokalemia can occur secondary to tubular damage caused by interstitial nephritis, the most common form of renal involvement in Sjögren syndrome. Interstitial cystitis, with symptoms of dysuria, frequency, urgency, and nocturia, is strongly associated with Sjögren syndrome.[43, 44] Glomerulonephritis can be caused by Sjögren syndrome but is uncommon and is usually attributable to another disorder, such as SLE or mixed cryoglobulinemia.
Genetic disorder which affects the connective tissue (elastine fibers). Angioid (changes degenerative fibers Bruch membrane). They are grayish and radiate from the optic nerve. Are bilateral and asymmetrical can produce acuity whether visual or macula forming MNVSR
Synechia
Infectious agents: Chlamydiae, Salmonella, Shigella, Yersinia, Campylobacter yellowish serous papules at soles and palms even nails, scrotum, scalp and trunk.
Diagnostic tests: Angiotensin converting enzyme (ACE) Hypercalcemia Panda and lambda pattern gammagraphy Bronchoalveolar lavage (BAL)- Transbronchial lung biopsy (TBLB): The earliest pathologic finding in patients with sarcoidosis is a mononuclear alveolitis composed of increased CD4+lymphocytes (with an increased CD4/CD8ratio), monocyte-macrophages, and rare B lymphocytes.
Koeppe and Busacca iris nodules 1. Prodromos pseudoflu 2. Acute fase: Neurologic symptoms: meningismus, tinnitus, pleocytosis in CFS Uveitis 3. Convalescent phase: poliosis, skin/uveal discoloration, poliosis, Sigiura sign (perilimbic discoloration), vitiligo, alopecia areata Chronic recurrent phase: recurrent anterior uveitis
Possible physical findings on slit lamp examination include blepharitis, atopic keratoconjunctivitis (AKC) scarring of the palpebral conjunctiva, papillary conjunctival reaction, Trantas dots (limbal deposits of eosinophils), atopic cataracts, and keratoconus. Unlike vernal conjunctivitis, the lower tarsus is involved more frequently. Hyperemia, chemosis, and discharge are more common than papillary or cobblestone reaction. Atopic cataracts develop in patients with long-standing atopic disease (10 or more years).These patients usually are older children or young adults. The incidence of atopic cataracts is estimated to be 10%, and they are most frequently bilateral. These cataracts tend to evolve rapidly and may opacify within 6 months. The cataracts often begin as a posterior subcapsular opacity and develop into an anterior cortex opacity that frequently resembles the shape of a shield or a bearskin rug.
Amaurosis fugax and cervicalgia: risk of carotid dissection
Neurofibromatosis type I, von Recklinghausen AD, alteraction in chromosome 17 Ocular • Lisch nodules or melanocytic hamartomas of iris: brown-orange bilateral tumors in the anterior surface of the iris. In number greater than 2 is a diagnostic criteria • Myelination of corneal nerves. • Plexiform neurofibromas in the upper eyelid • Congenital glaucoma • Changes in iridocorneal development. • Congenital uveal ectropion. • Hamartoma choroidal pigment • Retinal astrocytic hamartoma (rare). • Epiretinal membrane. • Optic nerve glioma (proptosis, decreased of AV without pallor). • Sphenoid wing dysplasia: pulsatile proptosis. Neurological: • optic pathway glioma Skin: • Spots in “café latte" (number greater than 6 is diagnostic criteria). • Ephelides or freckles in armpits and legs (Cowden sign). • Neurofibromas
Ocular: Retinal and optic nerve hamartomas: raised, yellowish, multinodular (blackberry-like) and sometimes calcified. Sometimes planes and semitransparent Peripheral Areas of depigmentation Iris coloboma Poliosis Eyelid and conjunctival angiofibromas Neurological Tubers at cerebral cortex and subependymal astrocytomas pathognomonic. Seizures and mental retardation. Skin Achromic lanceolate spots (90%) Shagreen spots: brownish back plate infant. Facial angiofibromas or sebaceous adenomas Nail fibromas Kidney and heart: Renal cysts and angiomyolipomas Subendocardial rhabdomyomas
ocular: Diffuse choroidal hemangioma (40%) ipsilateral to facial hemangioma sometimes complicated with: retinal detachment and neovascular glaucoma are difficult to control. Conjunctival and episcleral angioma. Heterochromia iris Congenital glaucoma and buphthalmos homolateral. Neurological and dermatological: • Plane angioma at trigeminal territory or facial nevus flameus: • Leptomeningeal angioma (parieto-occipital is the most frequent): might produce progressive contralateral hemiplegia, epilepsy and mental retardation
Masquerade syndromes are often misdiagnosed as a chronic idiopathic uveitis leukemic retinopathy (more common in children because they are more immature vessels) Roth spots (white center) Vascular beading/coating Retinal infiltrates (fulminant disease) Preretinal hemorrhages Infiltration of the optic nerve Exudative retinal detechment

Ophthalmological manifestations of systemic diseases

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Editor's Notes