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Clinical Classification of Childhood Glaucomas

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CLINICAL SCIENCES Clinical Classification of Childhood Glaucomas Helen H. Yeung, MD; David S. Walton, MD Objective: An updated classification of the primary and Results: A comprehensive and referenced classifica- secondary childhood glaucomas is offered for clinical use, tion of the pediatric glaucomas was enabled by this and associated systemic diseases are included to enable their review. early recognition in children with known glaucoma. Conclusion: A comprehensive, etiologically based Methods: Approximately 650 clinical records of pa- classification of the pediatric glaucomas is now tients with pediatric glaucoma were reviewed for type of glaucoma and associated systemic disease. A literature available to assist with the recognition of the many search was done for additional reported causes of child- causes of primary and secondary glaucoma in child- hood glaucoma. Previous classifications of pediatric glau- hood and to support the selection of specific treatment comas were also reviewed. Pertinent references to sup- choices. port inclusion of each clinical entity in the updated classification are included. Arch Ophthalmol. 2010;128(6):680-684 HE CHILDHOOD GLAUCO- with the presence of profound defects of the mas have been classified by anterior segment. Infantile primary congen- the age of onset, inherit- ital glaucoma includes patients with evi- ance, associated systemic dence of glaucoma most often recognized findings, and anatomy, ac- in the first year of life. Late recognized pri- cording to the associated and responsible mary congenital glaucoma indicates an en- T 1,2 anterior segment anomalies. In this ar- tity diagnosed significantly after an age ticle, we offer a comprehensive classifica- when ophthalmologic examination of the tion of the childhood glaucomas to assist patient would have recognized the presence in the recognition and differential diag- of abnormalities related to glaucoma. nosis of the reported clinically recogniz- Juvenile glaucoma has been used to de- able causes of primary and secondary pe- scribe glaucoma in childhood. We have diatric glaucomas (Table). continued its use specifically with juve- nile open-angle glaucoma that characteris- TERMINOLOGY tically develops during childhood. The secondary childhood glaucomas are Historically, the childhood glaucomas have those that occur as the result of indepen- been labeled developmental glaucomas dent disease mechanisms that second- based on the associated presence of de- arily impair the function of the filtration velopmental defects of the eye.1 Primary angle. childhood glaucomas will be classified as those caused by anomalies of the filtra- COMMENT tion angle. These glaucomas are often of genetic origin and may be associated with All classifications of the childhood glau- systemic diseases and other ocular de- comas have revealed the impressive num- fects. We have identified the systemic dis- ber of clinical entities that may feature or Author Affiliations: eases that have been described in associa- be complicated by childhood glaucoma. Department of Pediatrics, tion with childhood glaucoma. Previously these diseases have been vari- Massachusetts General Hospital 2 (Dr Yeung), and Department of Congenital glaucoma denotes a glau- ably identified and classified. The term as- Ophthalmology, Massachusetts coma that occurs early in life related to a sociation in reference to glaucoma with sys- Eye and Ear Infirmary congenital anomaly. Newborn primary con- temic diseases does not require that the (Dr Walton), Harvard Medical genital glaucoma defines a glaucoma en- glaucoma is an essential aspect of the dis- School, Boston, Massachusetts. tity that is recognized immediately at birth ease. In our classification, we list these (REPRINTED) ARCH OPHTHALMOL / VOL 128 (NO. 6), JUNE 2010 WWW.ARCHOPHTHALMOL.COM 680 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/27/2021 Table. Childhood Glaucomas Table. Childhood Glaucomas (continued) Primary (Developmental) Glaucomas Secondary (Acquired) Glaucomas Primary congenital glaucoma3,4 Traumatic glaucoma Newborn primary congenital glaucoma Acute glaucoma Infantile primary congenital glaucoma Hyphema89,90 Late-recognized primary congenital glaucoma Ghost cell glaucoma91-93 Juvenile open-angle glaucoma5 Glaucoma related to angle recession94-96 Primary angle-closure glaucoma6,7 Arteriovenous fistula97,98 Primary glaucomas associated with systemic diseases Glaucoma with intraocular neoplasms Sturge-Weber syndrome8 Retinoblastoma99,100 Neurofibromatosis (NF-1)9-11 Juvenile xanthogranuloma101,102 Stickler syndrome12 Leukemia103,104 a 13 Oculocerebrorenal syndrome (Lowe ) Melanoma of ciliary body105,106 14,15 Rieger syndrome Melanocytoma107 16 SHORT syndrome Iris rhabdomyosarcoma108 a 17-19 Hepatocerebrorenal syndrome (Zellweger ) Aggressive iris nevi109 20 Marfan syndrome Medulloepithelioma99,110,111 21-23 Rubinstein-Taybi syndrome Mucogenic glaucoma with iris stromal cyst112 24 Infantile glaucoma with retardation and paralysis Glaucoma related to chronic uveitis 25,26 Oculodentodigital dysplasia Open-angle glaucoma113-115 Glaucoma with microcornea and absent sinuses27 Angle-blockage mechanisms Mucopolysaccharidosis28,29 Synechial angle closure116 Trisomy 1330 Iris bombe with pupillary block117 Caudal regression syndrome31 32,33 Trisomy 21 (Down syndrome) Trabecular Meshwork Endothelialization118 34,35 Cutis marmorata telangiectatica congenita Lens-related glaucoma 36,37 Walker-Warburg syndrome Subluxation-dislocation with pupillary block 38-40 Kniest syndrome (skeletal dysplasia) Marfan syndrome20,119,120 41 Michels syndrome Homocystinuria121-123 42 Nonprogressive hemiatrophy Weill-Marchesani syndrome124,125 43,44 PHACE syndrome Axial-subluxation high myopia syndrome126 45 Soto syndrome Ectopia lentis et pupillae127 Linear scleroderma46 Spherophakia128,129 GAPO syndrome47,48 Phacolytic glaucoma130 Roberts pseudothalidomide syndrome49 Glaucoma following lensectomy for congenital cataracts Wolf-Hirschhorn syndrome50 Pupillary-block glaucoma131 Robinow syndrome51, b Infantile aphakic open-angle glaucoma132,133 Nail-Patella syndrome52,53 Glaucoma related to corticosteroids134,135 Proteus syndrome54 Glaucoma secondary to rubeosis Fetal hydantoin syndrome55 Retinoblastoma136,137 Cranio-cerebello-cardiac syndrome56,57 138 Brachmann-deLange syndrome58 Coats disease 139,140 Rothmund-Thomson syndrome59,60 Medulloepithelioma 141 9p Deletion syndrome61,62 Familial exudative vitreoretinopathy 142 Phakomatosis pigmentovascularis63,64 Subacute/chronic retinal detachment 143 Nevoid basal cell carcinoma syndrome (Gorlin syndrome)65, c Retinopathy of prematurity Epidermal Nevus syndrome (Solomon syndrome)66 Angle-closure glaucoma 144-146 Androgen insensitivity, pyloric stenosis67 Retinopathy of prematurity b Diabetes mellitus, polycystic kidneys, hepatic fibrosis, Microphthalmos hypothyroidism68 Nanophthalmos147-149 Diamond-Blackfan syndrome69 Retinoblastoma100,150 Primary glaucomas with profound ocular anomalies Persistent hyperplastic primary vitreous151 Aniridia70,71 Congenital pupillary iris-lens membrane152,153 Congenital aniridic glaucoma Topiramate therapy154,155 Acquired aniridic glaucoma Central retinal vein occlusion156 Congenital ocular melanosis72,73 Ciliary body cysts157,158 Sclerocornea74 Malignant glaucoma159 Congenital iris ectropion syndrome75,76 Glaucoma associated with increased venous pressure Peters syndrome77 Sturge-Weber syndrome160-162 Iridotrabecular dysgenesis (iris hypoplasia)78,79 Intraocular infection related glaucoma Posterior polymorphous dystrophy80,81 Acute recurrent toxoplasmosis163,164 Idiopathic or familial elevated venous pressure82 Acute herpetic iritis165 Congenital anterior (corneal) staphyloma83,84 Maternal rubella infection166,167 Congenital microcoria85,86 Endogenous endophthalmitis168 Congenital hereditary endothelial dystrophy87,88 Glaucoma secondary to unknown etiology 14,15 Axenfeld-Rieger anomaly Iridocorneal endothelial syndrome169,170 (continued) Abbreviations: GAPO, growth retardation, alopecia, pseudoanodontia, and optic atrophy; PHACE, posterior fossa abnormalities and other structural brain abnormalities, hemangioma(s) of the cervical facial entities together; however, the strength of the glaucoma region, arterial cerebrovascular anomalies, cardiac defects, relationship might be different. Glaucoma may be coin- aortic coarctation and other aortic abnormalities, and eye anomalies; SHORT, cidental or strongly genetically related to the systemic short stature, hyperextensibility of joints and/or inguinal disease. In the future, additional clinical experience and hernia, ocular depression, Rieger anomaly, and teething delay. a Indicates physician who first identified the disease. genetic testing may establish the relative importance of b Walton DS, written communication, January 1, 2009. these relationships. c Kane SA, written communication, February 5, 2008. (REPRINTED) ARCH OPHTHALMOL / VOL 128 (NO. 6), JUNE 2010 WWW.ARCHOPHTHALMOL.COM 681 ©2010 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/27/2021 The use of this classification as a clinical aid can fa- 18. Punnett HH, Kirkpatrick JA Jr. A syndrome of ocular abnormalities, calcifica- cilitate early recognition of glaucoma and identification tion of cartilage, and failure to thrive. J Pediatr. 1968;73(4):602-606. 19. Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol. 1991;35(5): of the specific glaucoma diagnosis
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