Abstract
A comprehensive classification of pseudo-developmental glaucoma with extensive bibliography is given.
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References
Goldberg MF, Curtis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome) Ophthalmologica 1981;182:119–129.
Wald KJ, Mehta MC, Katsumi O, Sabates NR, Hirose T. Retinal Detachments in incontinentia pigmenti. Arch Ophthalmol 193;111:614–617.
Liberfarb RM, Eavey RD, De Long GR, Albert DM, Dieckert JP, Hirose T. Norrie’s disease; a story of two families. Ophthalmology 1985;92:1445–1451.
Wong, F, et al. Identification of a nonsense at codon 128 of the Norrie’s gene in a male infant. Arch Ophthalmol 1927;5:537–386.
Heon E, et al. Peter’s anomaly. The spectrum of associated ocular and systemic malformations. Ophthalmic Paediatr Genet 1992;13:137–143.
Traboulsi EI, Maumenee IH. Peter’s anomaly and associated congenital malformations. Arch Ophthalmol 1992;110:1739–1742.
Blumenfeld A, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet 1993;4:160–164.
Rizzo JF, et al. Optic atrophy in familial dysautonomia Am J Ophthalmol 1986;102:463–467.
Doane JF, et al. Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature. Cornea 1994;13:454–458.
Martinez-Frias ML, et al. Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. Am J Med Genet 1994;49:195–197.
Apple DJ, et al. Patau syndrome Am J Ophthalmol 1970;70:338.
Ginsberg J Bove KE. Ocular pathology of trisomy 13. Ann Ophthalmol 1974;72:246.
Hayasaka S, et al. Leber congenital a maurosis in an infant with Down syndrome. Ann Ophthalmol 1992;24:250–252.
Markowitz GD, et al. Congenital euryblepharon and nasolacrimal anomalies in a patient with Down syndrome J Pediatr Ophthalmol Strabismus 1994;3:330–333.
Harboyan A, et al. Congenital corneal dystrophy, progressive sensorineural deafness in a family. Arch Ophthalmol 1971;85:27–32.
Foss AJ, et al. Interstitial keratitis and iridoschsis in congenital syphilis. J Clin Neuro-Ophthalmol 1992;12:167–170.
Salvador F, et al. Unilateral iridoschsis associated with syphilitic interstitial keratitis and glaucoma. Ann Ophthalmol 1993;25:328–329.
Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.
Friendly DS. Gonorrheal ophthalmia: reappearance of an old problem. Trans Am Acad Ophthalmol Otolaryngol 1970;74:975–983.
Falcon MG, et al. Management of herpetic eye disease. Trans Ophthalmol Soc UV 1977;97:345–349.
Kattah JC, Kenerdell JS. Orbital apex syndrome secondary to herpes zoster ophthalmicus. Am J Ophthalmol 1978;85:378–382.
Al Rashid RA, Cress C. Mumps uveitis complicating the coarse of acute leukemia. J Pediatr Ophthalmol 1977;14:100–102.
Meyer RF, et al. Mumps conjunctivitis. Am J Ophthalmol 1974; 78:331.
Deegan WF 3rd. Unifocal choroiditis in primary varicella zoster (chickenpox). Arch Ophthalmol 1994;112:753–756.
Bierly JR, Ostler HB. Varicella dendritic keratitis. J Pediatr Ophthalmol Strabismus 194;31:53–56.
Ruben FL, Lane JM. Ocular vaccinia: an epidemiologic analysis of 348 cases. Arch Ophthalmol 1970;84:45–48.
Wright DC, et al. Disseminated vaccinia in a military recruit with human immunodeficiency virus (HIV) disease N. J Med 1987;316:673–676.
Merle H, et al. Roberts pseudothalidomide syndrome. Arch Ophthalmol 2000:312–314.
Arffa RC. Grayson’s Disease of the Cornea, 3rd ed. St. Louis: Mosby-Year Book, 1991.
Greggel HS, Talley AR. Delayed onset keratectasia fallowing laser in situ keratomileusis. J Cataract Refract Surg 1999;25:582–586.
Krachner JH, et al. Keratoconus and related noninflammatory corneal thinning disorders. Surv Ophthalmol 1984;28:293–332.
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.
Van Ginderdeuren R, De Vos R, Casteels I, Foets B. Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. Cornea 2002;21:118–120.
Biswas J, et al. Primary nonfamilial amyloidosis of the vitreous. A light microscope and ultrastructural study. Retina 1992;12:251–253.
Sharma P, et al. Strabismus fixus convergens secondary to amyloidosis. J Pediatr Ophthalmol Strabismus 1992;28:2367.
Kaiser-Kupfer MI, et al. Long-term ocular manifestation in nephropathic cystinosis. Arch Ophthalmol 1986;104:706–711.
Clarke JTR, et al. Enzyme replacement therapy by renal transplantation in Fabry’s disease. N Engl J Med 1972;287:1215–1218.
Weingeist TA, Blondi FC. Fabr’s disease: ocular findings in a female carrier. Arch Ophthalmol 1971;85:169.
Feldman EB. Nutrition and diet in relation to hyperlipidemia and atherosclerosis. In Shields M, Olson JA, Shike M, eds. Modern Nutrition in Health and Disease, 8th ed. Philadelphia. Lea & Febiger, 1992.
Junemann A, et al. Epithelial and iron line in juvenile corneal arcus lipoids. Cornea 1995;14:540–542.
Kenyon KR. The systemic mucopolysaccharidoses. Ultarstructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol 1972;73:811.
Mailer C. Gargoylism associated with optic atrophy. Can J Ophthalmol 1969;4:266–277.
Kenyon KR, et al. Ocular pathology of the Maroteaux-Lamy syndrome. Am J Ophthalmol 1972;73:718.
Voskoboeva E, et al. Four novel mutant alleles of the arylsulfates B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Hum Genet 1994;93:259–264.
Kenyon KR, et al. The systemic polysaccharidoses: ultrastructural and histochemical studies of conjunctiva and skin. Am J Ophthalmol 1972;73:811.
Muenzer J, et al. Severe mitral insufficiency in mucopolysaccharidosis type III B (Sanflippo syndrome). Pediatr Cardiol 1993;14:130–132.
Smith LH. Inherited metabolic disease with pediatric ocular manifestations. In: DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. V. Philadelphia: WB Saunders, 1994, pp. 3102–3120.
Rummelt V, et al. Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie’s syndrome). Cornea 1992;11:86–92.
Hammer H, Korom I. Photodamage of the conjunctiva in patients with porphyria cutanea tarda. Br J Ophthalmol 1992;76:592–593.
Sober AJ, et al. Cicatricial ectropian and lacrimal obstruction associated with the sclerodermal variant of porphyria cutanea tarda. Am J Ophthalmol 1981;91:396–400.
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. Hapato-Nephromegalia Glykogenica (Glycogenspeicherkrankeit der Leber and Nieren). Beitr Pathol Anat 1929;82:497–513.
Krueger JL, Ide CH. Acrocephalosyndactyly (Apert’s syndrome). Am J Ophthalmol 1974;6:787–789.
Margolis S, et al. Oculocutaneous albinism associated with Apert’s syndrome. Br J Ophthalmol 1977;61:683–689.
Kirham TH, et al. Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol 1975;79:441–445.
Porteous MEM, Goudie DR. Aarskog syndrome. J Med Genet 1991;28:44–47.
Jansen AD, et al. Ocular complications in the Weill-Marchesani als Systemerkrankung. Klin Monatsbl Augenheilkd 1939;103:393.
Butt Z, et al. Central retinal artery occlusion in a patient with Marfan’s syndrome. Acta Ophthalmol 1992;70:281–284.
Cotlier E, Reinglass H. Marfan-like syndrome with lens involvement: Hyaloidoretinal degeneration with anterior chamber angle, facial, dental, and skeletal anomalies. Arch Ophthalmol 1975;93:93–106.
Arffa RC. Grayson’s Diseases of the Cornea, 3rd ed. St. Louis: Mosby-Year Book, 1991.
Verloes A, et al. Heterogeneity versus variability in megalocorneamental retardation (MMR) syndromes: report of new cases and delineation of probable types. Am J Med Genet 1993;46:132–137.
Frydman M, et al. Megalocornea, macrocephaly, mental and motor retardation (MMMM). Clin Genet 1990;38:149–154.
Roy FH. Ocular Syndromes and Systemic Diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins. 2002.
Bartsocas CS. Etiology of ocular manifestations in Lowe’s syndrome. Ann Ophthalmology. 1970;2:368.
Fagerholm P, et al. Lowe’s oculocerebrorenal syndrome-variation in lens changes in the carrier state. Acta Ophthalmol 1991;69:102–104.
Houston IB. Rutherford’s syndrome. A familial aculo-dental disorder and electrophysiology study. Acta Paediatr Scand 1966;55:223–238.
McKusick VA. Mendelian Inheritance in Man, 12th ed. Baltimore, MD: The Johns Hopkins University Press, 1998.
Smith JL, et al. Ocular manifestations in the Pierre-Robin syndrome. Arch Ophthalmol 1960;63:984.
Boger WP III, Perterson RA. Congenital rubella syndrome. In: Raven Langston D, ed. Manual of Ocular Diagnosis and Therapy, 4th ed. New York: Little, Brown and Company, 1995, pp. 266–267, 299.
Givens KT, et al. Congenital rubella syndrome: ophthalmic manifestations and associated systemic disorders. Br J Ophthalmol 1993;77:358–363.
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. I Philadelphia: WB Saunders, 1994, pp. 367–387.
Montes JG, Montes JCG. Syndrome de Rieger, Anomalie de Axenfeld con Glaucoma Juvenil Familiar. Arch Soc Ophth Hisp Am 1967;27:93.
Susac JO, et al. “The tomato-catsup” fundus in Sturge-Weber syndrome. Arch Ophthalmol 1974;92:69.
Pagon RA, et al. Possibile autosomal recessive ocular coloboma. Am J Med Genet 1981;9:189–193.
Chang S, et al. Treatment of total retinal detachment in morning glory syndrome. Am J Ophthalmol 1984;97:596–600.
Eustis HS, et al. Morning glory syndrome in children. Association with endocrine and central nervous system anomalies. Arch Ophthalmol 1994;112:204–207.
al Gazali LI, et al. A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents. Clin Dysmorphol 1994;3:55–62.
Madigan WP, et al. Retinal detachment in osteogenesis imperfecta. J Pediatr Ophthalmol Strabismus 1978;24:263–266.
Jackson LG. Genetic principles for the ophthalmologist. Trans Am Acad Ophthalmol Otolaryngol 1974;27–20.
Shields JA, et al. Observations on seven cases of intraocular leimyoma. Arch Ophthalmol 1994;112:521–528.
Shields JA, et al. Natural causes and histopathologic findings of lacrimal gland chorestoma of the iris and ciliary body. Am J Ophthalmol 1995;119:219–224.
Margolis S, et al. Oculocutaneous albinism associated with Apert’s syndrome. Am J Ophthalmol 1977;84:830–839.
Griffin JR, et al. Optometric screening in achondronplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita. Am J Optom Phsiol Opt 1980;57:118–123.
Grany WM, Walton DS. Progressive changes in the angle in congenital aniridia, with the development of glaucoma. Am J Ophthalmol 1974;78:843–847.
Pilling GB IV. Wilms’ tumor in seven children with aniridia. J Pediatr Surg 1975;10:87–96.
Colley A, et al. Ectopia lenis et pupillae: the genetics aspects and differential diagnosis. J Med Genet 1991;28:791–794.
Cruysberg JR, Pinckers A. Ectopia lentis et pupillae syndrome in three generations Br J Ophthalmol 1995;79:135–138.
Thomas JV, et al. Ocular manifestations of focal dermal hypoplasia syndrome. Arch Ophthalmol 1977;95:1997–2001.
Johnson VP, et al. Dominant microspherophakia. Arch Ophthalmol 1971;85:534–537.
Grand MG, et al. Angoid streaks associated with pseudoxanthoma elasticium in a 13-year-old patient. Ophthalmology 1978;94:197–200.
Schilling JS, Blach RK. Prognosis and therapy of angoid streaks. Trans Ophthalmol Soc UK 1975;95:301–306.
Cameron JA. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Clin Orthop Rel Res 1993;286:250–256.
Schwartz MF, et al. Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome. J Pediatr 1977;90:236–240.
Ford GR, et al. ENT manifestations of Fraser syndrome. J Laryngol Otol 1992;106:1–4.
Goldhammer Y, Smith JL. Cryptophthalmos syndrome in basal encephaloceles. Am J Ophthalmol 1975;80:146.
Cameron JA Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 1993;12:54–59.
Farley MK, et al. Spontaneous carotid-cavernous fistula and the Ehlers-Danlos syndromes. Am Acad Ophthalmol 1983;90:1337–1341.
Gallium NW, Anderson RL. Dominantly inherited blepharoptosis, high myopia and ectopia lentis. Arch Ophthalmol 1982;100:282–284.
Dejong PT, et al. Medullated nerve fibers: a sign of multiple basal cell nevi (Gorlin’s) syndrome. Arch Ophthalmol 1985;103:1833–1836.
Manzi G, et al. The Gorlin-Goltz syndrome: case report. Ophthalmologica 1990;200:104–106.
Ekins MB, Waring GO III. Absent meibomian glands and reduced corneal sensation in hypohidrotic ectodermal dysplasia. J Pediatr Ophthalmol Srabismus 1981;18:44–47.
Liakos GM. Anhidrotic ectodermal dysplasia with lacrimal anomalies. Br J Ophthalmol 1979;63:520–522.
Ramsey MS, et al. The ocular histopathology of homocystinuria. A light and electron microscope study. Am J Ophthalmol 1972;74:377.
Ghadimi H, et al. Hyperlysinemia. Proceedings of the American Pediatric Society VII Annual Meeting, Seattle, Washington, 1964: 33(Abstract).
Douglas GR. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1986;100:860–861.
Maumenee IH, Traboulsi EI. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985;100:155–166.
Jensen AD, Cross HE, Paton D. Ocular complications of the Weill-Marchesani syndrome. Am J Ophthalmol 1974;77:261–269.
Willi M, Kut L, Cotlier E. Pupillary-block glaucoma in the Marchesani syndrome. Arch Ophthalmol 1973;90:504–508.
Gorska M, Wosko I. Diastrophic dwarfism with ophthalmic disorders. Pediatr Pol 1974;49:339–342.
Bonafe L, Schmitt K, Eich G, et al. RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with polymorphisms. Clin Genet 2002;61:145–151.
Kolbert GS, Seelenfreund M. Sclerocornea, anterior chamber cleavage syndrome and trisomy 18. Ann Ophthalmol 1970;2:26.
Reese AB, Ellsworth RM. The anterior chamber cleavage syndrome. Arch Ophthalmol 1966;75:307–318.
Alward WLM Axenfled-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 2000;130:107–115.
Nemet P, Bracha R, Lazar M. Spontaneous filtering blebs in Axenfeld syndrome. Am J Ophthalmol 1973;76:590–591.
Jen J, Coulin CJ, Bosley TM, Salih MA, Sabatti C, Nelson SF, Baloh RW. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology. 2002;59:432–435.
Glueck CJ, et al. Protein C deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. Pediatr Res 1994;35:383–389.
Lichter PR. Iris processes in 340 eyes. Am J Ophthalmol 1969;68:872–878.
Dornguth S, et al. Golgi-Kopsch silver study of the brain of a patient with untreated phenylketonuria, seizures, and cortical blindness. Am J Med Genet 1992;44:443–448.
Pitt DB, O’Day J. Phenylketonuria does not cause cataracts. Eur J Pediatr 1991;150:661–664.
Brenner RL, et al. Eye signs of hypophosphatasia. Arch Ophthalmol 1969;81:614.
Beck B. Psycho-social assessment of 36 de Lange patients. J Med Defic Res 1987;31:251–257.
Bull MJ, Fitzgerald JF, Heifetz SA, Brei TJ. Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brach-mann de Lange syndrome. Am J Med Genet 1993; 47:1029–1034.
Cameron JA. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea 1993;12:54–59.
Ticho U, et al. Brittle cornea, blue sclera, and red hair syndrome. Br J Ophthalmol 1980;64:175–177.
Krause AC, Buchanan DN. Dysostosis craniofacialis (Crouzan). Am J Ophthalmol 1959;22:140.
Turvey TA, Long RE Jr, Hall DJ. Multidisciplinary management of Crouzan syndrome. J Am Dent Assoc 1979;99:205–209.
Ronen S, et al. The early management of baby with Hallerman Streiff-Francois syndrome. J Pediatr Ophthalmol Strabismus 1979; 16:119–121.
Summers DA, Cooper HA, Butler MG. Marshall-Smith syndrome: case report of a newborn and review of the literature. Clin Dysmorphol 1999;8:207–210.
Williams DK, et al. Marshall-Smith syndrome: the expanding phenotype. J Med Genet 1997;34:842–845.
Arroyo JG, et al. Steroid induced visual recovery in fibrous dysplasia. J Clin Neuro-Ophthalmol 1991;11:259–261.
McCluskey P, et al. Monostotic fibrous dysplasia of the orbit: an unusual lacrimal fossa mass. Br J Ophthalmol 1993;77:54–56
Kenyon KR, et al. Ocular pathology of the Marteaux-Lamy syndrome. Am J Ophthalmol 1972;23:718.
Madigan WP, et al. Retinal detachment in osteogenesis imperfecta. J Pediatr Ophthalmol Strabismus 1994;31:268–269.
Eretto P, et al. Optic Neuropathy in Paget’s syndrome. Am J Ophthalmol 1984;97:505–510.
Kheterpal S, et al. Paget’s disease presenting with exophthalmos. Eye 1994;8:480–481.
Smith JL, et al. Ocular manifestations of the Pierre Robin syndrome. Arch Ophthalmol 1996;63:984.
Mandal AK, Singh AP. Roberts pseudothalidomide syndrome. Arch Ophthalmol 2000;118:1462–1463.
Otano L, Matayoshi T, Gadow EC. Roberts syndrome: first-trimester prenatal diagnosis. Prenat Diagn 1996;16:770–771.
Abraham E, Altiok H, Lubicky JP. Musculoskeletal manifestations of Russell-Silver syndrome. J Pediatr Orthop 2004;24:552–564.
Noeker M, Wollmann HA. Congnitive development in Silver-Russell syndrome: a sibling-controlled study. Dev Med Child Neurol 2004;46:340–346.
Bristow JH, Whiting DA. Werner’s syndrome: clinical features and cataract surgery. S Afr Med J 1973;47:566–569.
Bullock JD, Howard RO. Werner syndrome. Arch Ophthalmol 1973;90:53–56.
Austin MW, et al. Conjunctival lymphoedema in Turner’s syndrome. Eye 1992;6:335–336.
Buckley CA, Cheng H. Intraocular melanoma, diabetes and Turner’s syndrome: presentation with proptosis. Br J Ophthalmol 1981; 65:460–463.
Weaver RG Jr, et al. The ocular changes in incontinentia pigmenti achromians (hypomelanosis of Ito). J Pediatr Ophthalmol Strabismus 1991;28:160–163.
Howard FM. Lax ligmanent syndrome in children associated with blue sclera and bat ears. Br J Gen Pract 1990;40:233–235.
Bordon AF, et al. Choroidal malignant melanoma in association with oculodermal melanocytosis in a black patient. Br J Ophthalmol 1995;79:1991–1992.
Seregard S, et al. Multiple melanocytic tumors in a case of ocular melanocytosis. Acta Ophthalmol 1993;71:562–565.
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Roy, F.H. Pseudo-developmental glaucoma. Ann Ophthalmol 37, 245–251 (2005). https://doi.org/10.1385/AO:37:4:245
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DOI: https://doi.org/10.1385/AO:37:4:245