Ocular Syndromes and Systemic Diseases



Download 2.95 Mb.
Page31/68
Date27.01.2017
Size2.95 Mb.
1   ...   27   28   29   30   31   32   33   34   ...   68

Hanhart Syndrome (Richner Syndrome; Recessive Keratosis Palmoplantaris; Pseudoherpetic
Keratitis; Richner-Hanhart Syndrome; Tyrosinemia II; Tyrosinosis; Pseudodendritic Keratitis) 553


General: Autosomal recessive; consanguinity.

Ocular: Excess tearing; photophobia; dendritic lesions of the cornea with corneal sensitivity not affected; keratitis; papillary hypertrophy of conjunctiva; corneal haze; neovascularization of cornea; cataract; nystagmus.

Clinical: Dyskeratosis palmoplantaris; diffuse keratosis; dystrophy of nails; hypotrichosis; mental retardation (usually pronounced); sensorineural hearing loss.

Bardelli AM, et al. Familial tyrosinaemia with eye and skin lesions. Presentation of two cases. Ophthalmologica 1977; 175:5-9.

Bienfang DC, et al. The Richner-Hanhart syndrome: report of a case with associated tyrosinemia. Arch Ophthalmol 1976; 94: 1133-1137.

Burns RP, et al. Keratopathy in tyrosinemia. Birth Defects 1976; 12:169-180.

Chandra Sekhar HK. Hanhart's syndrome with special reference to temporal bone findings. Ann Otol Rhinol Laryngol 1987; 96:309-314.

Charlton KH, et al. Keratitis and systemic tyrosinemia. Ophthalmology 1981; 88:355-360.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Goldsmith LA, Reed J. Tyrosine-induced eye and skin lesions: a treatable genetic disease. JAMA 1976; 236:382-384.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Hansen Disease (Leprosy) 554

General: Communicable disease caused by Mycobacterium leprae.

Ocular: Keratitis; leukoma; pannus; corneal ulcer; uveitis; iris atrophy; dacryocystitis; anisocoria; multiple pupils; decreased or absent pupillary reaction to light; paralysis of seventh nerve; episcleritis; blepharospasm; lagophthalmos; madarosis; secondary glaucoma; decreased intraocular pressure; subconjunctival fibrosis; punctate epithelial keratopathy; posterior subcapsular cataract; corneal hypesthesia; prominent corneal nerves; iridocyclitis; foveal avascular keratitis; scleritis; interstitial keratitis; iris pearls; dry eye.

Clinical: Disease affects primarily the skin, mucous membrane, and peripheral nerves.

Binford CH, et al. Leprosy. JAMA 1982; 247:16.

Dana MR. Ocular manifestations of leprosy in a noninstitutionalized community in the United States. Arch Ophthalmol 1994; 112:626-629.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Hornblass A. Ocular leprosy in South Vietnam. Am J Ophthalmol 1973; 75:478.

Schwab IR, et al. Leprosy in a trachomatous population. Arch Ophthalmol 1984; 102:240-244.

Sekhar GC, et al. Ocular manifestations of Hansen's disease. Doc Ophthalmol 1994; 87:211-221.

Shields JA, et al. Ocular findings in leprosy. Am J Ophthalmol 1974; 77:880-890.



Happy Puppet Syndrome (Puppet Children) 555

General: Etiology unknown; very rare form of infantile epilepsy.

Ocular: Optic atrophy; deficiency of choroidal pigment; lightly colored irides; Brushfield spots; retinal pigment epithelium abnormalities; heterotropia; blindness.

Clinical: Mental retardation; seizures; puppet-like ataxia; paroxysms of laughter; absent speech; microcephaly; horizontal occipital depression; brachycephaly; prognathism, abnormal electroencephalographic findings.

Angelman H. "Puppet" children: a report on three cases. Dev Med Child Neurol 1965; 7:681-688.

Bower BD, Jeavons PM. The "happy puppet" syndrome. Arch Dis Child 1967; 42:298-302.

Massey JY, Roy FH. Ocular manifestations of the happy puppet syndrome. J Pediatr Ophthalmol 1973; 10:282-284.



Harboyan Syndrome (Congenital Corneal Dystrophy and Sensorineural Hearing Loss; Maumenee Syndrome; Corneal Dystrophy, Congenital Hereditary Endothelial) 556

General: Autosomal recessive; both sexes affected; corneal edema present at birth; slow and progressive; both dominant and recessive forms of this disorder have been described.

Ocular: Bluish-white opacities of cornea with normal sensitivity and no vascularization; nystagmus; keratoconus.

Clinical: Sensorineural hearing loss with childhood onset.

Harboyan A, et al. Congenital corneal dystrophy, progressive sensorineural deafness in a family. Arch Ophthalmol 1971; 85:27-32.

Kirkness CM, et al. Congenital hereditary corneal edema of Maumenee: Its Clinical features, management and pathology. Br J Ophthalmol 1987; 71:130-144.

Maumenee AE. Congenital hereditary corneal dystrophy. Am J Ophthalmol 1960; 50:1114-1124.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Regenbogen LS, Coscas GJ. Oculo-auditory syndromes. New York: Masson, 1985.



Harlequin Syndrome (Bullous Ichthyosiform Erythroderma; Collodion Baby; Congenital Ichthyosis; Epidermolytic Hyperkeratosis; Ichthyosis; Ichthyosis Vulgaris; Lamellar Ichthyosis; Nonbullous Ichthyosiform Erythroderma; Xeroderma; X-Linked Ichthyosis) 557

General: Autosomal inherited disorder; affects both sexes; normal at birth; onset within first 7 days.

Ocular: Keratopathy; corneal scarring; keratitis; conjunctivitis; lagophthalmos; photophobia; ectropion; lid erythema; lacrimation.

Clinical: At birth, the skin surface is moist, red, and tender; within several days, thick verrucous scales form.

Chua CN, Ainsworth J. Ocular management of harlequin syndrome: photo essay. Arch Ophthalmol 2001; 119: 454-455.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Frost P. Disorders of cornification. In: Moschella SL, et al., eds. Dermatology. Philadelphia: WB Saunders, 1975: 1056-1084.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Orth DH, et al. Collodion baby with transient bilateral lid ectropion. Review of ocular manifestations of ichthyosis. Arch Ophthalmol 1974; 91:206-207.



Hartnup Syndrome (pellagra-Cerebellar Ataxia-Renal Aminoaciduria Syndrome; H Disease; Niacin Deficiency) 558

General: Recessive; inborn error in amino acid metabolism with abnormal metabolism of tryptophan; both sexes affected; presents from infancy.

Ocular: Ectropion; symblepharon; nystagmus; scleral ulcers; corneal leukoma; photophobia; diplopia during attacks.

Clinical: Dermatitis (similar to pellagra) with skin eruptions; progressive mental retardation; cerebellar ataxia.

McLaren DS. Cutaneous changes in nutritional disorders. In: Fitzpatrick TB, Eisen AZ, Wolff K, et al., eds. Dermatology in General Medicine, 3rd ed. New York: McGraw-Hill, 1987:1601-1613.

Scriver CR. Hartnup disease: a genetic modification of intestinal and renal transport of certain neutral alpha-amino acids. N Engl J Med 1965; 273:530.

Singh S, et al. Hartnup disease: a case report. Ind Pediatr 1978; 15:191-193.



Hays-Wells Syndrome (AEC Syndrome; Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Syndrome) 559


General: Autosomal dominant disease, as initially described, but may exist as an autosomal recessive disorder.

Ocular: Ankyloblepharon, filiforme adnatum (fused eyelids).

Clinical: Coarse, wiry, sparse hair; dystrophic nails; slight hypohidrosis; scalp infections; hypodontia; maxillary hypoplasia; cleft lip and palate.

Greene SL, Michels VV, Doyle JA. Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome. Am J Med Genet 1987; 27:207-212.

Seres-Santamaria A, Arimany JL, Muniz F. Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome? J Med Genet 1993; 30:793-795.

Shwayder TA, Lane AT, Miller ME. Hays-Wells syndrome. Pediatr Dermatol 1986; 3:399-402.



Headache Neurologic Defects and Cerebrospinal Fluid Lymphcytosis Syndrome 560

General: Age range 7-52 years of age; no gender bias

Ocular: Papillema; homonymous hemianopia; photopsias; sixth nerve palsy

Clinical: Headache; hemisensory defects; muscle weakness; aphasia; elevated intracranial pressure

Morrison DG, Phuah HK, Reddy AT, et al. Ophthalmologic involvement in the syndrome of headache, neurologic deficits, and cerebrospinal fluid lymphocytosis. Ophthalmology 2003; 110: 115-118



Head-Riddoch Syndrome 561

General: Occurs in quadriplegics; caused by distention of a viscus below the level of spinal cord lesion; seen most frequently in people with high cervical cord lesion; may follow catheter obstruction, fecal impaction, bladder calculi, urinary infection, or decubiti.

Ocular: Dilated pupils; blurred vision.

Clinical: Sweating; flushing; pilomotor activity; nasal stuffiness; headaches; generalized seizures; bradycardia; hypertension.

Cole TM, et al. Alterations of cardiovascular control of high spinal myelomalacia. Arch Phys Med Rehabil 1967; 48: 359-368.

Head H, Riddoch G. The automatic bladder, excessive sweating and some other reflex conditions in gross injuries of the spinal cord. Brain 1917; 40:188-263.

Heerfordt Syndrome (Uveoparotid Fever; Uveoparotitis; Uveoparotitic Paralysis) 562

General: Occurs in young adults, more frequently in females than in males; usual cause is sarcoidosis.

Ocular: Band keratopathy; keratoconjunctivitis sicca; uveitis; optic atrophy; papilledema; episcleritis; snowball opacity of vitreous; retinal vasculitis; proptosis; cataract; paralysis of seventh nerve; sarcoid nodules of eyelid, iris, ciliary body, choroid, and sclera; dacryoadenitis.

Clinical: Parotid gland swelling; facial paralysis; lymphadenopathy; splenomegaly; cutaneous nodules; facial nerve palsy.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Scadding JG. Sarcoidosis. London, Eyre & Spottiswoode, 1967.

Smellie H, Hoyle C. The natural history of pulmonary sarcoidosis. Q J Med 1960; 29:539-558.

Sutula FC. Tumors of the lacrimal gland and sac. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. I. Philadelphia: WB Saunders. 1994.

Hemangioma 563

General: Can occur throughout the body, but particularly in the head; primary intraosseous orbital hemangiomas is rare; capillary hemangioma of the orbit and eyelids generally is unilateral.

Ocular: Hemangiomas of lids or orbit; ptosis; strabismus; amblyopia; proptosis; optic atrophy; hypermetropia; cavernous hemangiomas are the most common benign orbital tumors of adults.

Clinical: Ipsilateral hemangiomas of the brain and meninges.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Shields JA, et al. Classification and incidence of space occupying lesions of the orbit: a survey of 645 cases. Arch Ophthalmol 1984; 102:1606.



Hemeralopia 564

General: Autosomal dominant.

Ocular: Complete loss of the outer quadrant of visual field bilaterally; visual fields become progressively more constricted until blindness occurs; corneal ulcers; photoreceptor dysfunction.

Clinical: None.

Gehrs K, Tiedeman J. Hemeralopia in an older adult. Surv Ophthalmol 1992; 37:185-189.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Roy FH. Ocular Differential Diagnosis, 7th ed. Philadelphia: Lea & Febiger, 2003.



Hemifacial Hyperplasia with Strabismus (Bencze Syndrome) 565

General: Autosomal dominant; abnormal growth of facial skeleton and soft tissue and viscera; left side prominent.

Ocular: Strabismus; amblyopia.

Clinical: Facial asymmetry; submucous cleft palate.

Bencze J, et al. Dominant inheritance of hemifacial hyperplasia associated with strabismus. Oral Surg 1973; 35: 489-500.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Hemifacial Microsomia Syndrome (Unilateral Facial Agenesis; Otomandibular Dysostosis; Francois-Haustrate Syndrome) 566

General: No inheritance pattern; left side of face seems to be more frequently involved; facial asymmetry usually most obvious finding; both sexes affected; alteration of intrauterine environment is possible cause.

Ocular: Microphthalmos; congenital cystic ophthalmia; enophthalmos; strabismus; cataract; colobomata of iris, choroid, and retina.

Clinical: Microtia; macrostomia; failure of development of mandibular ramus and condyle; external auditory meatus may be absent; single or numerous ear tags; hypoplasia of facial muscles unilaterally; pulmonary agenesis (ipsilateral side); associated with Goldenhar syndrome.

Francois J, Haustrate L. Anomalies Colobomateuses du Globe Oculaire et Syndrome du Premier arc. Ann Ocul 1954; 187:340.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Kobrynski L, et al. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Am J Med Genet 1993; 46:68-71.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Hemimacrosomia Syndrome (Steiner Syndrome; Hemigigantism; Hemifacial or Unilateral
Hypertrophy) 567


General: Occasionally hereditary, although true etiology is obscure; right side affected more frequently than left side; slight male preponderance.

Ocular: Dilated pupil on the affected side; eccentric pupillary location; hypochromic heterochromia.

Clinical: Unilateral facial enlargement may be associated with enlargement of half of entire body to varied extent and degree; thickened skin over involved area with increased activity of sebaceous and sweat glands; telangiectasias and multiple nevi; polydactyly; syndactyly; macrodactyly; scoliosis.

Curtius F. Kongenitaler Partieller Riesenwuchs mit Endokrinen Storungen. Dtsch Arch Klin Med 1925; 147:310.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Stafne EC, Lovestedt SA. Congenital hemihypertrophy of the face (facial gigantism). Oral Surg 1962; 15:184.



Hemochromatosis 568

General: Iron metabolism disorder; genetically determined, but mode of inheritance unknown; male preponderance 10:1; inheritance is autosomal recessive.

Ocular: Eyelid hyperpigmentation; diabetic retinopathy.

Clinical: Hemosiderin pigment deposition in many tissues; diabetes mellitus; cutaneous hyperpigmentation; cirrhosis of the liver; hypermelanotic pigmentation of skin; heart failure.

Boreck IB, et al. Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron and HLA. Am J Hum Genet 1990; 47Z:542-550.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Davies G, et al. Deposition of melanin and iron in ocular structures in haemochromatosis. Dr J Ophthalmol 1872; 56: 338.



Hemolytic Anemia of Newborns (Icterus Gravis Neonatorum; Erythroblastosis Fetalis) 569

General: Rh-positive/negative infant carried by an Rh-positive/negative mother; isoimmunization of the mother by her fetus of different blood group.

Ocular: Retinal hemorrhages; ophthalmoplegia; optic atrophy; yellow conjunctiva and lids.

Clinical: Jaundice; edema; liver and spleen palpable; cutaneous purpura; bleeding from mucosa.

Kasper DL, et al., eds. Harrison’s Principles of Internal Medicine, 16th ed. New York: McGraw-Hill, 2005.

Dacie JV. The hemolytic anemias. 2nd ed. New York: Grune & Stratton. 1967.

Hennebert Syndrome (Luetic-Otitic-Nystagmus Syndrome) 570

General: Caused by congenital syphilis; manifestations in childhood; when a fistula in the labyrinth exists, compression of the external auditory meatus will produce nystagmus of a wide amplitude (diagnostic of fistula).

Ocular: Spontaneous nystagmus when the column of air in the auditory canal is compressed; interstitial keratitis; disseminated syphilitic chorioretinitis may be present.

Clinical: Vertigo; fistula in the labyrinth; deafness; other clinical manifestations of congenital syphilis may be present, such as "saddle" nose and Hutchinson teeth.

Geeraets WJ. Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.

Hennebert C. Reactions Vestibulaires dans les Labyrinthites Heredo-Syphilitiques. Arch Int Laryngol Otol 1909; 28:93.

Rucker CW. Nystagmus. Am J Ophthalmol 1953; 36:250.



Henoch-Schönlein Purpura (Purpura; Anaphylactoid Purpura) 571

General: Occurs chiefly in children, although it can affect persons of any age; frequently follows an upper respiratory tract infection within 3 weeks.

Ocular: Retinal hemorrhages; iritis; optic neuritis.

Clinical: Purpuric skin rash; concentrated on lower extremities; joint pain; abdominal pain; hematuria; central nervous system involvement.

Harley RD, ed. Pediatric Ophthalmology. 4th ed. Philadelphia: WB Saunders, 1998.

Lorentz WB Jr, Weaver RG. Eye involvement in anaphylactoid purpura. Am J Dis Child 1980; 134:524-525.

Ryder HG, Marcus O. Henoch-Schonlein purpura: a case report. S Afr Med J 1976; 50:2005-2006.



Hepatic Failure 572

General: Liver failure from infections or from toxic or inflammatory causes.

Ocular: Visual field defects; scleral icterus; night blindness; abnormal color vision; eyelid retraction; lid lag; Kayser-Fleischer ring; yellow discoloration of the conjunctiva.

Clinical: Bilirubin accumulation; reduced vitamin A levels.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Lipman RM, Deutsch TA. A yellow-green posterior limbal ring in a patient who does not have Wilson's disease. Arch Ophthalmol 1990; 108:1385.

Rustgi AK, Marcus DM. Gastrointestinal and nutritional disorders. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. V. Philadelphia: WB Saunders, 1994.

Summerskill W, Molnar G. Eye signs in hepatic cirrhosis. N Engl J Med 1962; 266:1244.

Hereditary Ectodermal Dysplasia Syndrome (Siemens Syndrome; Keratosis Follicularis Spinulosa Syndrome; Hypohidrotic Ectodermal Dysplasia; Christ-Siemens-Touraine Syndrome; Weech
Syndrome; Anhidrotic Ectodermal Dysplasia; Ichthyosis Follicularis) 573


General: Autosomal recessive inheritance; strong male preponderance (about 95%); linked to X-chromosome.

Ocular: Complete loss of eyebrows (madarosis); follicular keratosis; blepharitis; entropion or ectropion; reduced tear formation or epiphora; myopia; keratoconjunctivitis; corneal erosions and ulcers (recurrent); corneal dystrophy; cataract; increased periorbital pigmentation; mongoloid lid slant; photophobia; absence of iris; luxation of lens; papillary abnormalities; cataracts.

Clinical: Mental retardation; dry skin and anhidrosis (reduced number of sweat glands); hypotrichosis; follicular hyperkeratosis (neck, palms, soles); hypohidrosis.

Ekins MB, Waring GO III. Absent meibomian glands and reduced corneal sensation in hypohidrotic ectodermal dysplasia. J Pediatr Ophthalmol Strabismus 1981; 18:44-47.

Freire MN, et al. A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs. J Med Genet 1975; 12:308-310.

Hazen PG, et al. Premature cataracts in a family with anhidrotic ectodermal dysplasia. Arch Dermatol 1980; 116: 1385-1387.

Liakos GM. Anhidrotic ectodermal dysplasia with lacrimal anomalies. Br J Ophthalmol 1979; 63:520-522.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.



Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.

Oosterwijk JC, et al. Linkage analysis and regional assignment of keratosis follicularis spinulosa decalvans to Xp22.2-p21.2. Cytogenet Cell Genet 1991; 58:2078(abstr).



Hereditary Microcornea, Glaucoma, and Absent Frontal Sinuses 574

General: Autosomal dominant.

Ocular: Microcornea; glaucoma; epicanthal folds; optic cupping.

Clinical: Thickened palmar skin; torus palatinus; frontal sinus hypoplasia.

Holmes LB, Walton DS. Hereditary microcornea, glaucoma, and absent frontal sinuses; a family study. J Pediatr 1969; 74:968-971.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.




Share with your friends:
1   ...   27   28   29   30   31   32   33   34   ...   68


The database is protected by copyright ©dentisty.org 2019
send message

    Main page