Ординатура / Офтальмология / Английские материалы / Ocular Differential Diagnosis 7th edition_Roy_2002

Blepharoptosis (Ptosis, Droopy Upper Lid; Weak Levator

Palpebrae Superioris Muscle)

1. Congenital ptosis

A.*Simple (most congenital ptosis)â??may be the result of autosomal dominant inheritance

B.Complicated ptosis

1. Ptosis with ophthalmoplegia (most congenital ptosis)â??the most commonly involved muscle is the superior rectus

2. Ptosis with other lid deformities such as epicanthus, blepharophimosis, microphthalmia, and lid colobomaâ??may be hereditary

3. Synkinetic (paradoxical) ptosis-aberrant nervous connections from the other extrinsic muscles of the eye and jaw to the levator muscle

a.Marcus Gunn phenomenon (jaw-winking reflex)â??motor root of the fifth cranial nerve to the muscle of mastication also is misdirected through the third nerve to the levator muscle.

b.Phenomenon of Marin Amat (reverse jaw-winking reflex)

c.Misdirected third nerve syndromeâ??bizarre eyelid movements that may accompany various eye movements; the ptotic eyelid may rise as the medial rectus, the inferior rectus, or the superior rectus muscle contracts.

4. Horner syndrome

C.Involutional ptosis

D.Mechanical

1. Periorbital tumor

2. Neuroma, neurofibroma

3. Cicatricial skin changes

2. Acquired ptosis

A.Traumatic ptosis

1. Eyelid laceration

2. Postsurgical ptosis

a.Anterior transposition of inferior oblique muscle

b.Enucleation

c.Orbital operation

d.Cataract operation e. Radial keratotomy

P.50

3. Foreign bodies lying in the roof of the orbit

4. Fracture of orbital roof, also following contusion with resulting hematoma but

13. Corticosteroid ptosisâ??prolonged use of topical corticosteroid therapy

14. Mascara ptosisâ??due to subconjunctival deposits of mascara

15. Ptosis associated with chronic conjunctivitis and uveitis

16. Use of botulinum toxin

D.Protective ptosis following injury to the eye

E.Mechanical ptosis 1. Tumor

a.Benign tumorâ??such as neurofibroma or hemangioma

b.Malignant tumorâ??such as basal cell carcinoma, squamous cell carcinoma, malignant melanoma, or rhabdomyosarcoma

c.Metastatic lesionâ??such as from breast or lung

d.Sinus extensionâ??such as mucocele of frontal sinus

2. Blepharochalasisâ??hereditary with recurrent attacks of severe edema and residual damage to the tissues

3. Cicatricial ptosisâ??such as that secondary to cicatricial conjunctivitis (see p. 49â??50) or surgical trauma to the superior fornix

4. Contact lens migration

5. Palpebral form of vernal conjunctivitis

6. Intracranial extensionâ??such as chordoma

Bodker FS, et al. Acquired blepharoptosis secondary to essential blepharospasm. Ophthalmic Surgery 1993;24:546â??550.Bibliographic Links

Fraunfelder FT, Fraunfelder FW. Drug-induced ocular side effects. Woburn, MA: Butterworth-Heinemann, 2001.

Frueh BR. The mechanistic classification of ptosis. Ophthalmology 1980;87:1019.Bibliographic Links

Grant CA, et al. An infratemporal fossa foreign body presents as an infraorbital mass. Arch Ophthalmol 2000;118:993â??995.Bibliographic Links

Hertle RW, et al. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology 1992;99:347â??355.Bibliographic Links

Kushner BJ. The effect of anterior transposition of the inferior oblique muscle on the palpebral fissure. Arch Ophthalmol 12000;18:1542â??1544.

Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.

Vaughn GL, et al. Variable diplopia and blepharoptosis after orbital floor fracture repair. Am J Ophthalmol 1994;117:407â??409.Bibliographic Links

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Syndromes and Diseases Associated with Ptosis

1. Aarskog syndrome (faciogenital dysplasia)â??x-linked

2. Acquired immunodeficiency syndrome

3. Addison disease (idiopathic hypoparathyroidism)

4. Alacrima congenital with distichiasis, conjunctivitis, keratitisâ??autosomal dominant

5. Albersâ??Schönberg syndrome (marble bone disease)

6. Albright syndrome (osteitis fibrosa disseminata)

7. Amyloidosis (Lubarschâ??Pick syndrome)

8. Apert syndrome (acrocephalosyndactylia syndrome)

9. Arteriovenous fistula

10. Axenfeldâ??Schurenberg syndrome (cyclic oculomotor paralysis)

11. Babinskiâ??Nageotte syndrome (medullary tegmental paralysis)

12. Basal cell carcinoma

13. Bassenâ??Kornzweig syndrome (abetalipoproteinemia)

14. Bell palsy (idiopathic facial paralysis)

15. Bingâ??Neel syndrome (Bing disease)

16. Blepharophimosis syndrome

17. Bonnetâ??Dechaume-Blanc syndrome (neuroretinoangiomatosis)

18. Bonnevieâ??Ullrich syndrome (pterygolymphangiectasia)

19. Botulism

20. Brown syndrome (superior oblique tendon sheath syndrome)

21. Carpenter syndrome (acrocephalopolysyndactyly II)

22. Cavernous sinus syndrome (Foix syndrome)

23. Cerebral palsy

24. Cestanâ??Chenais syndrome (Cestan syndrome)

25. Chromosome long-arm deletion syndrome

26. Chromosome partial deletion (long-arm) syndrome (de Grouchy syndrome) 27. Chromosome short-arm deletion syndrome

28. Congenital fibrosis syndrome (all extraocular muscles)

29. Congenital fibrosis of the inferior rectus with ptosisâ??autosomal dominant 30. *Congenital ptosis

A.Simple failure of peripheral differentiation of musclesâ??dominant

B.Ptosis with blepharophimosisâ??dominant

C.Ptosis due to ophthalmoplegiaâ??autosomal dominant

31. Craniocarpotarsal dysplasia (Freemanâ??Sheldon syndrome)

32. Craniocervical syndrome (whiplash injury)

33. Cretinism (juvenile hypothyroidism)

34. Creutzfeldtâ??Jakob syndrome (spastic pseudosclerosis) 35. Cri-du-chat syndrome (Cry of the cat syndrome)

36. Crouzon syndrome (craniofacial dysostosis)

37. Cushing syndrome (2) (cerebellopontine angle syndrome)

38. Dandyâ??Walker syndrome (atresia of foramen Magendie)

39. Dawson disease (subacute sclerosing panencephalitis)

40. Dejerineâ??Klumpke syndrome (lower radicular syndrome)

41. de Lange syndrome (congenital muscular hypertrophyâ??cerebral syndrome)

42. Devic syndrome (ophthalmoencephalomyelopathy)

43. Diphtheria

44. Dubowitz syndrome (dwarfismâ??eczemaâ??peculiar facies) P.53

45. Duck-bill lips, low-set earsâ??autosomal dominant 46. Eatonâ??Lambert syndrome (myasthenic syndrome) 47. Eclampsia and preeclampsia

48. Ehlersâ??Danlos syndrome (fibrodysplasia elastic generalisata)

49. Engelmann syndrome (osteopathia hyperostotica scleroticans multiplex infantalis)

50. Epidermal nevus syndrome (ichthyosis hystrix)

51. Erbâ??Goldflam syndrome (myasthenia gravis)

52. Erysipelas (St. Anthony fire)

53. Fabry syndrome

54. Faciorenal acromesometic syndrome

55. Fisher syndrome (ophthalmoplegiaâ??ataxiaâ??areflexia syndrome)

56. Fetal alcohol syndrome

57. Fetal trimethadione

58. Foramen lacerum syndrome (aneurysm of internal carotid artery syndrome) 59. Freemanâ??Sheldon syndrome

60. Garcin syndrome (half-base syndrome)

61. Gerlier disease (paralytic vertigo)

62. Gillumâ??Anderson syndrome (dominant blepharoptosis, high myopia)

63. Guillainâ??Barré syndrome (acute infectious neuritis)

64. Hairy elbow syndrome

65. Hemangiomas

66. Herpes zoster

67. Hodgkin disease

68. Horner syndrome (cervical sympathetic paralysis)

69. Hunter syndrome [mucopolysaccharidosis (MPS) II]

70. Hurler disease (MPS I)

71. Hyperammonemia

72. Hyperparathyroidism

73. Hyperthyroidism (Basedow syndrome)

74. Hypocalcemia

75. *Hypoparathyroidism

76. Hysteria

77. Infectious mononucleosis

78. Influenza

79. Jugular foramen syndrome (Vernet syndrome)

80. Kearnsâ??Sarne syndrome

81. Kilohâ??Nevin syndrome (muscular dystrophy of external ocular muscles)

82. Kohnâ??Romano syndrome (blepharoptosis, blepharophimosis, epicanthus inversus, telecanthus)

83. Komoto syndrome (congenital eyelid tetrad)

84. Krause syndrome (congenital encephaloophthalmic dysplasia)

85. Kugelbergâ??Welander syndrome (progressive proximal muscle atrophy)

86. Kussmaul disease (necrotizing angiitis)

87. Laurenceâ??Moonâ??Bardetâ??Biedl syndrome (retinitis pigmentosaâ??polydactylyâ??adiposogenital syndrome)

88. Leigh disease (subacute necrotizing encephalomyelopathy)

89. Little syndrome (nailâ??patella syndrome)

90. Lymphangioma

91. Lymphedema

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92. Malaria

93. Malignant hyperthermia syndrome

94. Maple-syrup urine disease (branched-chain ketoaciduria) 95. Marcus Gunn syndrome (jaw-winking syndrome)

96. Marin Amat syndrome (inverted Marcus Gunn syndrome)

97. MERRF syndrome

98. Micro syndrome

99. Misdirected third nerve syndrome

100. Möbius syndrome (congenital paralysis of the sixth and seventh nerves) 101. Morquio syndrome (keratosulfaturia)

102. Mucormycosis

103. Multiple sclerosis (disseminated sclerosis)

104. Myopathy, centronuclear with external ophthalmoplegiaâ??autosomal dominant

105. Myotonic dystrophy syndrome (Curschmannâ??Steinert syndrome)

106. Myotubular myopathyâ??autosomal recessive or x-linked

107. Naffziger syndrome (scalenus anticus syndrome)

108. Neurilemoma

109. Neuroblastoma

110. Neurofibromatosis

111. Nonneâ??Milroyâ??Meige disease (congenital trophedema)

112. Noonan syndrome (male Turner syndrome)

113. Oculopharyngeal muscular dystrophy

114. Ophthalmoplegic migraine syndrome

115. Ophthalmoplegicâ??retinal degeneration (Kearnsâ??Sayre syndrome) 116. Orodigitalâ??facial syndrome (Papillonâ??Léage and Psaume syndrome) 117. Pachydermoperiostosis (Touraineâ??Solenteâ??Gole syndrome)

118. Pancoast syndrome (superior pulmonary sulcus syndrome)

119. Parinaud syndrome (paralysis of vertical movements)

120. Parkinson syndrome (paralysis agitans)

121. Parryâ??Romberg syndrome (progressive facial hemiatrophy)

122. Periocular and ocular metastatic tumors

123. Pierreâ??Robin syndrome (micrognathiaâ??glossoptosis syndrome)

124. Poliomyelitis

125. Progressive intracranial arterial occlusion syndrome

126. Purpura and ptosisâ??combined inheritance with male-to-male transmission 127. Raeder syndrome (paratrigeminal paralysis)

128. Retraction syndrome (Duane syndrome)â??autosomal dominant

129. Retroparotid space syndrome

130. Rileyâ??Day syndrome (congenital familial dysautonomia)

131. Ring D chromosome

132. Rollet syndrome (orbital apexâ??sphenoidal syndrome)

133. Rubinsteinâ??Taybi syndrome (broad thumbs syndrome)

134. Scleroderma (progressive systemic sclerosis)

135. Scurvy (vitamin C deficiency)

136. Shyâ??Gonatas syndrome (similar to Hunter and Refsum syndrome) 137. Smithâ??Lemliâ??Opitz syndrome (cerebrohepatorenal syndrome) 138. Smith syndrome (facioskeletogenital dysplasia)

139. Sparganosis

140. Spider bites P.55

P.56

P.57

141. Strabismus and ectopic pupilsâ??autosomal dominant

142. Subclavian steal syndrome

143. Syphilis (acquired lues)

144. Syringomyelia (Passow syndrome)

145. Temporal arteritis syndrome (Hutchinsonâ??Hortonâ??Magathâ??Brown syndrome) 146. Thirteen Q syndrome (microcephaly, high nasal bridge, thumb hypoplasia)

147. Tolosaâ??Hunt syndrome (painful ophthalmoplegia)

148. 3p syndrome

149. Trachoma

150. Treft syndrome (optic atrophy and hearing loss)

151. Triploidy (chromosomes instead of 46)

152. Trisomy (E syndrome)

153. Tuberculosis

154. Tunbridgeâ??Paley disease (juvenile diabetes, optic atrophy and hearing loss) 155. Turner syndrome (gonadal dysgenesis)

156. van Bogaertâ??Hozay syndrome

157. Vertebral fusion, posterior lumbosacral with ptosisâ??autosomal dominant

158. von Herrenschwand syndrome (sympathetic heterochromia)

159. von Recklinghausen syndrome (neurofibromatosis)

160. Waardenburg syndrome (embryonic fixation syndrome)

161. Wallenberg syndrome (dorsolateral medullary syndrome)

162. Weber syndrome (cerebellar peduncle syndrome)

163. Wernicke syndrome (hemorrhagic polioencephalitis superior syndrome)

Diagnostic table

Ptosis

View Table

Larned DC, et al. The association of congenital ptosis and congenital heart disease. Ophthalmology 1986;93:492â??494.Bibliographic Links

McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: Johns Hopkins University Press, 1998.

Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.

Specific Blepharoptosis

1. Unilateral ptosis with dilated pupilâ??tumor or abscess of temporal lobe and third nerve palsy

2. Unilateral ptosis with miosisâ??midbrain lesion near the posterior commissure and Horner syndrome

3. Ptosis with disturbance of integrated ocular movementâ??lesion near superior colliculus

4. Bilateral ptosis with small immobile pupils and loss of upward rotation of eyeballsâ??lesion near posterior commissure

5. Ptosis with loss of voluntary elevation but normal involuntary elevation of the lid when the eye looks upâ??supranuclear lesion

6. Ptosis in repose and normal elevation with active motionâ??hereditary cerebellar ataxia of