General: Vitreous strand passes through the pupillary space and becomes attached or incarcerated in a corneal wound either posttraumatic or after intraocular surgery (see Irvine Syndrome); associated with endophthalmitis.
Ocular: Sensation of light flashes due to vitreous pull on the retina; irregular pupil; vitreous strands passing through pupil to attach to corneal wound or scar; loss of foveal reflex on ophthalmoscopic examination; circumscribed retinal edema; occasional posterior retinal detachment.
Irvine SR. Newly defined syndrome following cataract surgery; interpreted according to recent concepts of structure of vitreous: seventh Francis P. Proctor lecture. Am J Ophthalmol 1953; 36:599.
Maxwell DP Jr, et al. Surgical wound defects associated with endophthalmitis. Ophthalmic Surg 1994; 25:157-161.
Ruiz RS, van Teeters W. A late complication following cataract extraction. Am J Ophthalmol 1970; 70:483.
Stainer GA, Binder PS. Vitreous wick syndrome following a corneal relaxing incision. Ophthalmic Surg 1981; 12: 567-570.
General: Variant of rheumatoid arthritis; etiology unknown; autosomal dominant; male preponderance; onset at age 20 to 40 years; although genetic background determines susceptibility to uveitis, the disease pattern suggests the possibility of random environmental triggers unrelated to the course of the underlying rheumatologic disorder.
Kanematsu A, et al. Multiple calcium oxalate stone formation in a patient with glycogen storage disease type I (von Gierke's disease) and renal tubular acidosis type I: a case report. Hinyokika Kiyo 1993; 39:645-648.
von Gierke E. Hepato-Nephromegalia Glykogenica (Glycogenspeicherkrankeit der Leber und Nieren). Beitr Pathol Anal 1929; 82:497-513.
Von Herrenschwand Syndrome (Sympathetic Heterochromia) 1312
General: Congenital anomaly; heterochromia with Horner syndrome; sympathetic palsy from cervical ribs, tumor of the thyroid gland, enlarged cervical lymph nodes, scars following tuberculosis, or syringomyelia in apex of the pleura.
Ocular: Enophthalmos; ptosis; heterochromia (ipsilateral iris); miosis; iris on the side of the sympathetic denervation usually shows subtle hypochromia.
Clinical: Decrease of sweating ipsilateral side of face as part of the sympathetic paralysis.
Eagle RC. Congenital, developmental and degenerative disorders of the iris and ciliary body. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. V. Philadelphia: WB Saunders, 1994:367.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
Steegmann AT, Roberts DJ. The syndrome of the anterior choroidal artery. J Am Med Assoc 1935; 104:1695-1697.
Takahashi S, et al. The anterior choroidal artery syndrome I. Microangiography of the anterior choroidal artery. Neuroradiology 1994; 36:337-339.
Von Recklinghausen Syndrome (Neurofibromatosis Type I; Neurinomatosis) 1315
General: Dominant inheritance activated at puberty, during pregnancy, and at menopause; strong evidence supports the existence of NFl as a tumor suppresser gene.
Ocular: Proptosis; displacement of the globe; pulsation of the globe; ptosis; elephantiasis of the lids; pigment spots on lids; hydrophthalmos; nodular swelling of corneal nerves; cataracts; optic atrophy; choroidal melanoma; neurofibroma of the choroid, iris, eyelid, and ciliary body; enlarged optic foramen; underdevelopment of orbital bones; cafe-au-lait spots on fundus; hamartoma of retina; congenital glaucoma; focal iris nodules; choroidal nevi; optic nerve gliomas; orbital neurofibroma; keratoconus.
Seiff SR, et al. Orbital optic glioma in neurofibromatosis. Arch Ophthalmol 1987; 105:1689-1692.
Smith B, English FP. Classical eyelid border sign of neurofibromatosis. Br J Ophthalmol 1979; 54: 134-135.
Von Reuss Syndrome (Galactosemic Syndrome; Galactokinase Deficiency; Galactosemia) 1316
General: Autosomal recessive; consanguinity; conversion of galactose into glucose is blocked, leading to galactosemia; onset after a few days or weeks of milk ingestion; deficiency of galactose-1-phosphate uridyltransferase.
Ocular: Searching-type nystagmus; bilateral nuclear or cortical cataracts appear clinically as oil droplets; bilateral zonular cataracts with fine punctate opacities in the lens periphery.
Clinical: Vomiting; refusal of food; diarrhea; weight loss; hepatomegaly with ascites; jaundice; galactosuria; aminoaciduria; dehydration; hypoglycemic crisis; failure to thrive; hypotonia; lethargy; severe mental and neurologic manifestations.
Cordes FC. Galactosemia cataract: a review. Am J Ophthalmol 1960; 50: 1151.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Lerman S. The lens in congenital galactosemia. Arch Ophthalmol 1960; 61:88.
Okajima K, et al. Thimidase kinase in individuals with galactokinase deficiency [Letter]. Am J Hum Genet 1987; 41: 503-504.
General: Autosomal dominant; conjunctival and. oral lesions; found in whites.
Ocular: Foamy gelatinous plaques located in a typical horseshoe fashion at 3 and 9 o'clock positions of the perilimbal area; superficial hyperemia of bulbar conjunctiva; corneal vascularization and consequent visual decrease.
Clinical: Thickening of oral mucosa with whitish plaques and folds of a spongy character (asymptomatic), with slow progression from birth into second decade of life.
von Sallmann L, Paton D. Hereditary benign intraepithelial dyskeratosis: I. Ocular manifestations. Arch Ophthalmol 1960; 63:421.
Witkop CJ Jr, et al. Hereditary benign intraepithelial dyskeratosis: II. Oral manifestations and hereditary transmission. Arch Pathol 1960; 70:696.
Waardenburg Syndrome (Van Der Hoeve-Halberstam-Waardenburg Syndrome; Waardenburg-
Klein Syndrome; Embryonic Fixation Syndrome; Interoculo-Iridodermato-Auditive Dysplasia) 1318
General: Irregular dominant inheritance; developmental fault in neural crest with absence of the organ of Corti, aplasia of the spiral ganglion, and pigmentary changes; no sex preference; onset at birth.
Ocular: Hyperplasia of the medial portions of the eyebrows; hypertelorism; blepharophimosis; strabismus; heterochromia iridis; aniridia; microcornea; cornea plana; microphakia; abnormal fundus pigmentation; hypoplasia of optic nerve; synophrys; poliosis; hypopigmentation and hypoplasia of retina and choroid; epicanthus; lateral displacement of inferior puncta; lenticonus; underdevelopment of orbital bones; lateral displacement of inner canthi; hypopigmented iris.
Clinical: Congenital deafness; unilateral deafness or deaf-mutism; broad and high nasal root with absent nasofrontal angle; albinotic hair strain (unilateral); faint patches of skin pigmentation; pituitary tumor; nasal atresia; white forelock.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Goldberg ME Waardenburg's syndrome with fundus and other anomalies. Arch Ophthalmol 1966; 76:797.
Hayasaka S, et al. Waardenburg syndrome in Japanese patients. Case reports and literature review. Ophthalmologica 1992; 205:46-51.
Holmstrom H, Santanelli E Waardenburg's syndrome. Report of a case with nasal atresia, Scand J Plast Reconstr Surg Hand Surg 1991; 25:181-182.
Kimura H, et al. Waardenburg's syndrome and pituitary tumor. Acta Ophthalmol 1994; 72:642-644.
Waardenburg PJ.A new syndrome combining development anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head and with congenital defects. Am J Hum Genet 1951; 3:195,
Wagner Syndrome (Hyaloideoretinal Degeneration; Hereditary Hyaloideoretinal Degeneration and Palatoschisis; Clefting Syndrome; Goldmann-Favre Syndrome; Favre Hyaloideoretinal Degeneration; Retinoschisis with Early Hemeralopia) 1319
General: Irregular dominant inheritance; both sexes affected.
Ocular: Epicanthus; nystagmus; myopia; iris atrophy; vitreous opacities with dense streaks and folds in posterior hyaloid membrane; corneal degeneration, including band-shaped keratopathy; cataracts; hyaloideoretinal degeneration (usually apparent after 15 years); narrowing of retinal vessels; pigmentary changes; type of retinal degeneration varies from case to case; retinal detachment and avascular preretinal membranes; marked choroidal sclerosis; pale optic disk; Bergmeister papilla.
Cordido M, et al. Dry eye in Waldenstrom's macroglobulinemia. Improvement after systemic chemotherapy. Cornea 1995; 14:210-211.
Ettl AR, et al. Orbital involvement in Waldenstrom's macroglobulinemia: ultrasound, computerized tomography and magnetic resonance findings. Ophthalmologica 1992; 205:40-45.
Feman SS, Stein RS. Waldenstrom's macroglobulinemia, a hyperviscosity manifestation of venous stasis retinopathy. Int Ophthalmol 198; 4:107-112.
Friedman AH, et al. Immunofluorescent studies of the eye in Waldenstrom's macroglobulinemia. Arch Ophthalmol 1980; 98:743-746.
Lu LW; et al. Sjogren's syndrome and benign hyperglobulinemic purpura of Waldenstrom. Ann Ophthalmol 198l; 13: 1285-1287.
Sen HN, Chan CC, Caruso RC, et al. Waldenstrom’s macroglobulinemia-associated retinopathy. Ophthalmology. 2004; 111: 535-538.
Walker-Clodius Syndrome (Lobster Claw Deformity with Nasolacrimal Obstruction; EEC;
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate) 1321
General: Autosomal dominant; both sexes affected; onset from birth; association with chromosome 7 abnormalities.
Ocular: Hypertelorism; nasolacrimal obstruction with constant epiphora; mucopurulent conjunctival discharge; keratitis; nanocanalization of the lacrimal duct.
Clinical: Deformities of hands and feet ("lobster claw"); absence of both index and middle fingers and second metacarpals with rudimentary third metacarpals; syndactylism; cleft palate and lips; deafness; ear malformation; renal anomalies.
Fukushima Y, et al. The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft/lip palate confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization [Letter]. Clin Genet 1993; 44:50.
Walker JC,Clodius L. The syndromes of cleft lip, cleft palate and lobster claw deformities of hands and feet. Plast Reconstr Surg 1963; 32:627.
Wiegmann OA, Walker FA. The syndrome of lobster claw deformity and nasolacrimal obstruction. J Pediatr Ophthalmol 1970; 7:79.
Walker-Warburg Syndrome (Cerebroocular Dysplasia-Muscular Dystrophy; Warburg Syndrome;
COD-MD Syndrome; Fukuyama Congenital Muscular Dystrophy; Hard + or - E Syndrome) 1322
General: Rare; encompassing a triad of brain, eye, and muscle abnormalities; probably autosomal recessive.
General: Occlusion of the posterior inferior cerebellar artery; onset after age 40 years; similar to Babinski-Nageotte syndrome but crossed hemiparesis is absent; nystagmus is produced by involvement of the vestibular nuclei or posterior longitudinal bundle.
Clinical: Nausea; vertigo; difficulty in swallowing and speaking; ipsilateral ataxia; muscular hypotonicity; ipsilateral loss of pain and temperature sense of the face; neurotrophic skin ulcers; contralateral hypalgesia; facial weakness.
Brazis PW. Ocular motor abnormalities in Wallenberg's lateral medullary syndrome. Mayo Clin Proc 1992; 67:365-368.
Hornsten G. Wallenberg's syndrome. I. General symptomatology with reference to visual disturbances and imbalance. Acta Neural Scand 1974; 50:434.
Marcoux C, et al. Neurotrophic ulcer following Wallenberg's syndrome. Dermatology 1993; 186:301-302.