Ocular Syndromes and Systemic Diseases


Mercury Poisoning (Minamata Syndrome) 793



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Mercury Poisoning (Minamata Syndrome) 793

General: Both sexes affected; onset several weeks or months after ingestion of fish from contaminated water or animals fed with contaminated grain; symptoms may be mild to severe.

Ocular: Constriction of visual fields; blindness.

Clinical: Paresthesia of mouth, tongue, and extremity; hearing loss; asthenia; fatigue; inability to concentrate; dysarthria; tremors; persistent vegetative state; peripheral neuropathy; cerebella ataxia; gait disturbance; sensory impairment; anosmia; loss of taste; bladder disturbance; mental deterioration.

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

Takeuchi T, et al. Neuropathology of childhood cases of methylmercury poisoning (Minamata disease) with prolonged symptoms, with particular reference to the decortication syndrome. Neurotoxicology 1979; 1:1-20.

Meretoja Syndrome (Finnish Type, FAP IV) 794

General: Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV; also called primary hereditary systemic amyloidosis.

Ocular: Lattice corneal dystrophy; cranial nerve palsies.

Clinical: Multiple neurologic symptoms such as severe itching, various nerve palsies, and diminished vibratory sensation; patients are said to develop a so-called bloodhound-like appearance due to skin and facial nerve degeneration.

Asaoka T, et al. Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. Jpn J Ophthalmol 1993; 37:426-431.

Purcell JJ, et al. Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). Ophthalmology 1983; 90:1512-1517.

Rintala AE, et al. Primary hereditary systemic amyloidosis (Meretoja's syndrome): clinical features and treatment by plastic surgery. Scand J Plast Reconstr Surg Hand Surg 1988; 22:141-145.



MERRF Syndrome 795

General: Associated with mitochondrial tRNA [Leu(UUR)] A3243G mutation.

Ocular: Optic neuropathy; pigmentary retinopathy, ophthalmoparesis, and ptosis.

Clinical: Mitochondrial encephalomyopathy; lactic acidosis; strokelike episodes.

Hwang JM, Park HW, Kim SJ. Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation. Ophthalmic Genet 1997; 18:101-105.



Meshers Macroreticular Dystrophy of Retinal Pigment Epithelium (Butterfly-Shaped Dystrophy of
Retinal Pigment Epithelium) 796


General: Autosomal recessive; autosomal dominant inheritance has been reported.

Ocular: Butterfly-shaped dystrophies of retinal pigment epithelium; macular degeneration associated with fundus flavimaculatus; drusen of Bruch membrane; choroidal folds; bull's-eye degeneration of macula; detachment of pigment epithelium.

Clinical: None.

Bastiaensen LA, et al. Patterned anomalies of the retinal pigment epithelium: dystrophy or syndrome? Doc Ophthalmol 1983; 5: 17-29.

Girard P, et al. Macroreticular and butterfly shaped dystrophies of the retinal pigment epithelium. J Fr Ophthalmol 1980; 3:101-108.

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/.

Nichols BE. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993; 3:202-207.



Mesodermal Dysgenesis (Anterior Chamber Dysgenesis; Dysembryogenesis; Anterior Segment Ocular Dysgenesis Syndrome) 797

General: Mesodermal abnormalities, including oculocutaneous albinism; autosomal dominant.

Ocular: Capsular cataracts; external ophthalmoplegia; anterior chamber cleavage syndrome; atrophy of iris; ectropion; flat cornea; coloboma of iris and choroid; posterior embryotoxon; Axenfeld anomaly; Rieger anomaly; Peters anomaly; keratoconus; microphthalmos.

Clinical: None.

Ferrell RE, et al. Anterior segment mesenchymal dysgenesis; probable linkage to the MNS blood group on chromosome 4. Am J Hum Genet 1982; 24:245-249.

Lubin JR. Oculocutaneous albinism associated with corneal mesodermal dysgenesis. Am J Ophthalmol 1981; 91:347-350.

Lubin JR. Oculocutaneous albinism and corneal mesodermal dysgenesis. Am J Ophthalmol 1981; 92:587.

Ghose S, et al. Microphthalmos and anterior segment dysgenesis in a family. Ophthalmic Paediatr Genet 1991; 12:177-182.

Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 798

General: Autosomal recessive.

Ocular: Retinitis pigmentosa.

Clinical: Defective cartilage and growth of long bones, particularly the metacarpals and phalanges.

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/.

Phillips CI, et al. Retinitis pigmentosa, metaphyseal chondrodysplasia and brachydactyly: an affected brother and sister. J Med Genet 1981; 18:46-49.



Metastatic Bacterial Endophthalmitis 799

General: Causative agent usually of low pathogenicity (e.g., Staphylococcus albus, Staphylococcus epidermidis); occasionally organisms of greater pathogenicity (e.g., Pseudomonas aeruginosa, Diplococcus pneumoniae); bilateral 45%; organisms originate in body or are introduced by drug addicts using nonsterile needles.

Ocular: Conjunctival hemorrhages; conjunctivitis; Roth spots; retinal arterial occlusion; uveitis; hypopyon; chorioretinitis; endophthalmitis; retinal hemorrhages.

Clinical: Manifestations are nonspecific.

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

Pflugfelder SC, Flynn HW Jr. Infectious endophthalmitis. Infect Dis Clin North Am 1992; 6:859-873.

Rogell G. Infectious and inflammatory diseases. In: Duane TD, ed. Clinical Ophthalmology, vol. V. Philadelphia: JB Lippincott, 1982: 10-11.



Metastatic Fungal Endophthalmitis 800

General: Usually occurs in immunosuppressed or immunocompromised patients; usually asymmetrical; Candida albicans frequent etiologic agent.

Ocular: Anterior uveitis; vitreitis; focal retinitis; Roth spots; chorioretinitis; Fusarium solani also has been isolated from immunocompromised patients with endogenous endophthalmitis.

Clinical: May be evidence of other monocular foci of metastatic fungal disease.

Cohen M, Montgomerie JZ. Hematogenous endophthalmitis due to Candida tropicalis: report of two cases and review. Clin Infect Dis 1993; 17:270-272.

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

Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.

Louie T, et al. Endogenous endophthalmitis due to Fusarium: case report and review. Clin Infect Dis 1994; 18:585-588.

Methemoglobinemia 801

General: Deficiency of enzyme; inherited or acquired, with acquired most common; caused by contact with drugs and chemicals; disorder disappears when offending chemical is eliminated.

Ocular: Pigmentation of conjunctiva and retina.

Clinical: Cyanosis; mental retardation; central nervous system involvement.

Braunwald E, et al. Harrison’s Principles of Internal Medicine, 11th ed. New York: McGraw-Hill, 1987.

Duke-Elder S, MacFaul PA. System of Ophthalmology, vol. XIII. St. Louis: CV Mosby, 1974.

Gibson QH. Methemoglobinemia-long ago and far away. Am J Hematol 1993; 42:3-6.

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/.

Meyer-Schwickerath-Weyers Syndrome (Microphthalmos Syndrome; Oculodentodigital Dysplasia) 802

General: Etiology unknown; two types recognized: (I) dysplasia oculodentodigitalis and (II) dyscraniopygophalangie; type I is characterized by microphthalmia with possible iris pathology and glaucoma, oligodontia and brown pigmentation of teeth, camptodactyly, and possible absence of middle phalanx of second to fifth toes; type II consists of severe microphthalmos to anophthalmos, polydactyly, and developmental anomalies of nose and oral cavity; both sexes affected; present from birth; abnormal cerebral white matter.

Ocular: Microphthalmos; hypotrichosis; glaucoma; iris anomalies (eccentric pupil; changes in normal iris texture; remnants of pupillary membrane along iris margins); microcornea; hypertelorism; myopia; hyperopia; keratoconus.

Clinical: Thin, small nose with anteverted nostrils and hypoplastic alae; syndactyly; camptodactyly (fourth and fifth fingers); anomalies of middle phalanx of fifth finger and toe; hypoplastic teeth; wide mandible; alveolar ridge; sparse hair growth; visceral malformations.

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

Gutmann DH, et al. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am J Med Genet 1991; 41:18-20.

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/.

Meyer-Schwickerath, et al. Mikrophthalmus-syndrome. Klin Monatsbl Augenheilkd 1957; 131:18.

Weyers H. Zur Dyscephalie mit Cataracta Congenita und Hypotrichose. Eur J Pediatr 1954; 74:468.

Micro Syndrome 803

General: Autosomal recessive microcephaly and microcornea; Muslim Pakistani inheritance; present at birth; consanguinity; autosomal recessive.

Ocular: Microcornea; congenital cataract; retinal dystrophy; optic nerve atrophy; ptosis; microphakia; microphthalmos; nuclear cataract; atonic pupils.

Clinical: Severe mental retardation; hypothalamic hypogenitalism; hypoplasia of the corpus callosum; short stature; cortical visual impairment; microcephaly; developmental delay.

Ainsworth JR, et al. Micro syndrome in Muslim Pakistan children. Ophthalmology 2001; 108:491-497.

Megarbane A, et al. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia. Severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? J Med Genet 1999; 36:637-640.

Rodriguez C, Rufo M, Gomez de Terreros I. A second family with micro syndrome. Clin Dysmorphol 1999; 8: 241-245.

Warburg M, et al. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: micro syndrome. Am J Dis Child 1993; 147:1309-1312.

Microcephaly with Chorioretinopathy 804

General: Autosomal dominant; congenital infection; exposure to irradiation, chemical agents, mother's infection, or injury.

Ocular: Chorioretinopathy usually inactive.

Clinical: Microcephaly; slow growth of brain; mild mental retardation.

Fanconi R, et al. Chorio-retinal dysplasia, microcephaly and mental retardation: an autosomal dominant syndrome. Clin Genet 1981; 20:347-351.

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/.

Sadler LS, Robinson LK. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Am J Med Genet 1993; 47:65-68.



Microcephaly, Microphthalmia, Cataracts, and Joint Contractures 805

General: Autosomal dominant; ocular features like Hagberg-Santavuori syndrome.

Ocular: Microphthalmia; cataracts; hypopigmented retinal degeneration.

Clinical: Microcephaly; shortening or wasting of muscle fibers, causing excess scar tissue over joints.

Bateman JB, et al. Ocular features of Hagberg-Santavuori syndrome. Am J Ophthalmol 1986; 102:262-271.

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/.

Microphthalmia and Mental Deficiency 806

General: Autosomal recessive.

Ocular: Microphthalmia; corneal opacities.

Clinical: Severe mental retardation; spastic cerebral palsy; glycinuria; abnormally small head.

Balci L. Corneal opacity, microphthahnos, mental retardation; microcephaly, and generalized muscular spasticity associated with hyperglycinemia. Clin Genet 1974; 5:36-39.

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/.

Microphthalmos, Myopia, and Corectopia 807

General: Autosomal dominant; characterized by microphthalmos, myopia, and corectopia.

Ocular: Microphthalmos; myopia; corectopia; glaucoma; cataract; hypoplastic macula; spherophakia; microphakia.

Clinical: None.

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/.

Scheie HG. Text of Ophthalmology, 10th ed. Philadelphia: WB Saunders, 1986.



Microphthalmos, Pigmentary Retinopathy, Glaucoma 808

General: Autosomal dominant; three disorders combined.

Ocular: Microphthalmos; pigmentary retinopathy; glaucoma.

Clinical: None.

Hermann P. Syndrome: Microphthalmic-retinite pigmentaire-glaucoma. Arch Ophthalmol 1958; 18:17-24.

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/.

Micropsia Syndrome (Lilliputian Syndrome) 809

General: Psychosensory illusion produced by various mental derangements such as acute infections, alcoholism, toxic delirium, dementia, or trauma.

Ocular: Illusions, with misjudging of distance, position, and size of known objects (regarded as a psychovisual phenomenon).

Clinical: Fixed hallucinations or dreams are expressions of illusions and are misinterpreted by the patient.

Bender MB, Savitzky N. Micropsia and teleopsia limited to the temporal fields of vision. Arch Ophthalmol 1943; 29:904.

Savitzky N, Tarachow S. Lilliputian hallucinations during convalescence from scarlet fever in a child. J Nerv Ment Dis 1941; 93:310.

Microspherophakia with Hernia 810

General: Autosomal dominant.

Ocular: Microspherophakia; glaucoma.

Clinical: Inguinal hernia.

Johnson VP, et al. Dominant microspherophakia. Arch Ophthalmol 1971; 85:534-537.

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/.

MIDAS Syndrome (Microphthalmia, Dermal Aplasia and Sclerocornea) 811

General: X-linked phenotype; male-lethal trait

Ocular: Bilateral microphthalmia; sclerocornea; blepharophimosis

Clinical: dermal aplasia; microcephaly; cardiomyopathy; ventricular fibrillation; congenital heart defect

Cope CJ, Zaidman GW, Beck AD, et al. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia and sclerocornea) Arch Ophthal. 2004; 122:1070-1074

Happle R, Daniels O, Koopman RJ,: MIDAS syndrome (microphthalmia, dermal aplasia and sclerocornea): an x-linked phenotype distinct from Goltz syndrome. Am J Med Genet. 1993; 47:710-713.

Mietens Syndrome (Mietens-Weber Syndrome) 812

General: Etiology unknown; unclassifiable familial condition.

Ocular: Bilateral corneal opacities; horizontal and rotational nystagmus; strabismus; bushy eyebrows; ptosis.

Clinical: Growth failure; flexion contracture of the elbows; dislocation of the head of the radii; mental retardation; small pointed nose with a depressed root; low hairline; external ear defects; digital defects; hypertrichosis.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981:548.

Mietens C, Weber H. A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure and mental retardation. J Pediatr 1966; 69:624.

Waring GO, Rodrigues MM. Ultrastructural and successful keratoplasty of sclerocornea in Mietens' syndrome. Am J Ophthalmol 1980; 90:469-475.



Migraine (Vascular Headache) 813

General: Recurrent attacks of pain in the head; usually unilateral; often familial.

Ocular: Abnormal visual sensations; scotoma generally restricted to one half of the visual field; complete blindness; unilateral transient visual loss; photopsia; branch retinal artery occlusions; anisocoria.

Clinical: Nausea; vomiting; anorexia; sensory, motor, and mood disturbances; fluid imbalance; headache.

Drummond PD. Cervical sympathetic deficit in unilateral migraine headache. Headache 1991; 31:669-672.

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

Glenn AM, et al. Complicated migraine resulting in blindness due to bilateral retinal infarction. Br J Ophthalmol 1992; 76:189-190.

Hykin PG, et al. Bilateral cilioretinal artery occlusion in classic migraine. Postgrad Med J 1991; 67:282-284.

Tomsak RL. Ophthalmologic aspects of headache. Med Clin North Am 1991; 75:693-706.

Saper JR. Migraine. II. Treatment. JAMA 1978; 239:2480-2484.

Smith JL. Migraine. Neuro-Ophthalmology update. New York: Masson, 1982.



Mikulicz-Radecki Syndrome (Mikulicz Syndrome; Dacryosialoadenopathy; Mikulicz-Sjögren
Syndrome) 814


General: Not an individual disease but a manifestation of tuberculosis, syphilis, leukemia, lymphosarcoma, sarcoidosis, Hodgkin disease, mumps, Waldenström macroglobulinemia, or lymphoma; exhibits a chronic course with frequent recurrences; milder form of Sjögren syndrome (see Schaumann Syndrome).

Ocular: Bilateral painless enlargement of lacrimal glands with bulging of upper lid; decreased or absent lacrimation; conjunctivitis; uveitis; optic atrophy; optic neuritis; phlyctenules; keratoconjunctivitis; dacryoadenitis; retinal candlewax spots; periphlebitis.

Clinical: Symmetrical, perhaps marked, enlargement of salivary glands; dryness of mouth and pharynx; hoarseness; neurologic complications.

Meyer D, et al. Differential diagnosis in Mikulicz's syndrome, Mikulicz's disease, and similar disease entities. Am J Ophthalmol 1971; 71:516-524.

von Mikulicz-Radecki J. Ueber eine Eigenartige Symmetrische Erkrankung der Thranen und Mundspeicheldrusen. Beitr Chirurg Festschr Gewid T Billroth Stuttgart 1892; 610-630.

Millard-Gubler Syndrome (Abducens-Facial Hemiplegia Alternans) 815

General: Vascular, infectious, or tumorous lesion at the base of the pons affecting the nuclei of the sixth and seventh nerves and fibers of the pyramidal tract; demyelinating disease.

Ocular: Diplopia; esotropia; paralysis external rectus muscle (often bilateral); in unilateral cases, there is deviation of eyes to side opposite lesion and inability to move them toward side of lesion; abduction of eye prevented by destruction of sixth nerve nucleus; opposite eye cannot be voluntarily adducted but can converge and move in this position by rotatory and caloric stimulation.

Clinical: Ipsilateral facial paralysis; contralateral hemiplegia of arm and leg from involvement of pyramidal tract.

Bronstein AM, et al. Abnormalities of horizontal gaze: Clinical, oculographic and agenetic resonance findings I. Abducens palsy. J Neurol Neurosurg Psychiatry 1990; 53:194.

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

Gubler A. De l'Hemiplegie Alterne Envisagee Comme Signe de Lesion de la Protuberance Annulaire et Comme Preuve de la Decussation des Nerfs Faciaux. Gaz Hebd Med Chir 1856; 3:749,789,811.

Minderhoud JM. Diagnostic significance of symptomatology in brain stem ischaemic infarction. Eur Neurol 1971; 5:343.

Newman NJ. Third, fourth and sixth nerve lesions and the cavernous sinus. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. IV. Philadelphia: WB Saunders, 1994:2458.





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