Congenital glaucoma part2; developmental glaucoma
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Congenital glaucoma part2; developmental glaucoma

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developmental glaucoma/ juvenile onset glaucoma: axenfield rieger anomaly, peter's anomaly , aniridia, associated with other syndromes and chromosomal anomalies, mucopolysacharidosis , stickler......

developmental glaucoma/ juvenile onset glaucoma: axenfield rieger anomaly, peter's anomaly , aniridia, associated with other syndromes and chromosomal anomalies, mucopolysacharidosis , stickler syndrome etc..

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  • 1. DEVELOPMENTAL GLAUCOMA Dr. Nidhi Thaker
  • 2. • Primary glaucomas with associated abnormalities • All of the primary glaucomas that have associated ocular abnormalities to be forms of anterior segment dysgenesis. • Neurocristopathies • Anterior segment dysgeneses are attributed to defects in neural crest migration or differentiation
  • 3. 1. IRIDODYSGENESIS a. Aniridiab b. Congenital iris ectropion syndrome c. Iridotrabecular dysgenesis (iris hypoplasia) 2. CORNEODYSGENESIS (IRIDOCORNEODYSGENESIS) a. Axenfeld-Rieger anomaly b. Peters anomaly d. Sclerocornea e. Congenital hereditary endothelial dystrophy f. Posterior polymorphous dystrophy g. Megalocornea
  • 4. AXENFELD-RIEGER SYNDROME
  • 5. Axenfeld-Rieger Syndrome • Three Eponyms: (A) Axenfeld Anomaly : Limited to peripheral anterior segment defects (B) Rieger Anomaly: Peripheral abnormalities with additional changes in the iris (C) Rieger Syndrome: Ocular anomalies plus systemic developmental defects
  • 6. 1. Partial retention of the primordial endothelium (e) on the iris (i) and anterior chamber angle (aca); 2. Incomplete posterior recession of peripheral uvea from trabecular meshwork (tm); 3. Abnormal differentiation between corneal and chamber angle endothelium with a prominent, anteriorly displaced schwalbe line (SL). 4. Development of tissue strands from retained endothelium crossing the anterior chamber angle
  • 7. • Anterior Chamber Cleavage Syndrome • Mesodermal Dysgenesis Of The Cornea And Iris
  • 8. • Contraction of retained endothelium with iris changes of corectopia (c), ectropion uvea (eu), and iris atrophy (ia), which may continue after birth; a tissue strand (ts) can also be seen. • Incomplete development of trabecular meshwork and Schlemm canal (SC); continued traction on the iris with possible secondary ischemia leads to hole formation (h).
  • 9. General Features • Bilateral • Frequent family history of the disorder, with an autosomal dominant mode of inheritance • No sex predilection • Frequent systemic developmental defects • High incidence of associated glaucoma • Age :birth to adulthood, with most cases recognized in infancy or childhood
  • 10. Ocular Features CORNEA • Prominent, anteriorly displaced schwalbe line. • White line on the posterior cornea near the limbus. • Incomplete, usually limited to the temporal quadrant; Sometimes 360 degree ; only gonioscopic finding • Occasional variation in the overall size (i.e, Megalocornea or, less often, microcornea) or shape of the cornea • Congenital opacities of the central cornea
  • 11. • Anterior Chamber Angle • Gonioscopic examination; 1. Prominent schwalbe line 2. Iridocorneal adhesions 3. The anterior chamber angle is open and the trabecular meshwork is visible, but the scleral spur is typically obscured by peripheral iris, which inserts into the posterior portion of the meshwork
  • 12. •Iris • Mild stromal thinning to marked atrophy with hole formation, • Corectopia • Ectropion uveae. • When corectopia is present, the pupil is usually displaced toward a prominent peripheral tissue strand the atrophy and hole formation typically occur in the quadrant away from the direction of the corectopia.
  • 13. Other ocular abnormalities • Strabismus • Limbal dermoids • Corneal pannus • Cataracts • Congenital ectropion uveae • Congenital pupillary-iris-lens membrane • Peripheral spokelike transillumination defects of the iris • Retinal detachment • Macular degeneration • Chorioretinal colobomas • Choroidal hypoplasia • Hypoplasia of the optic nerve heads
  • 14. • Glaucoma • More than one half of the patients with the axenfeld-rieger syndrome develop glaucoma. • Childhood or young adulthood. • The high insertion of peripheral iris into the trabecular meshwork, appears to be more pronounced in those eyes with glaucoma • The proposed mechanism of glaucoma in these cases relates to abnormalities of the trabecular meshwork and schlemm canal
  • 15. Systemic Features • Dental anomalies: Microdontia Hypodentia Oligodontia
  • 16. Facial anomalies : A receding upper lip and prominent lower lip Hypertelorism Maxillary hypoplasia with flattening of the midface Telecanthus A broad flat nose Micrognathia  mandibular prognathism
  • 17. • primary empty sella syndrome • Congenital parasellar arachnoid cyst • Growth hormone deficiency • Others: o Redundant periumbilical skin o Hypospadias o Oculocutaneous albinism o Heart defects o Middle-ear deafness o Mental deficiency
  • 18. Genetic Linkage • Chromosomes :4q25, 6p25, and 13q14. • Type 1 :Pitx2 on 4q25 • Type 2: RIEG2 on 13q14 • Type 3: FOXC1 on 6p25
  • 19. Differential Diagnosis 1. Iridocorneal Endothelial (ICE) Syndrom* 2. Posterior Polymorphous Corneal Dystrophy 3. Peters anomaly 4. Aniridia 5. Oculodentodigital Dysplasia 6. Ectopia Lentis et Pupillae 7. Congenital Microcoria and Myopia
  • 20. Peters Anomaly • Defect in the neural crest cell migration in the 6 – 8th wk of fetal development • Present at birth • Usually bilateral • Most cases are sporadic/autosomal recessive/ autosomal dominant transmission • Defects of the ear and auditory system, orofacial system, heart, genitourinary system, spine, and musculoskeletal system • Can be caused by mutation in the PAX6, PITX2, CYP1B1, or FOXC1
  • 21. Clinicopathologic Features • Central corneal abnormality : hallmark 1. Defect in the descemet membrane and corneal endothelium with thinning and opacification of the corresponding area of corneal stroma 2. Iris adhesions 3. Bowman layer absent centrally
  • 22. I. In Peters anomaly not associated with keratolenticular contact or cataract II. Peters anomaly associated with keratolenticular contact or cataract III. Peters anomaly associated with Axenfeld- Rieger syndrome
  • 23. Glaucoma • 50% pts • Infantile glaucoma • Mechanism: o Peripheral anterior synechiae formation o Incomplete development of trabecular meshwork and schlemm canal
  • 24. Systemic association • Craniofacial anomalies • CNS anomalies • Fetal alcohol syndrome • Chromosomal abnormaalities • ‘peter plus’ syndrome: o Short-limbed dwarfism o Cleft lip/palate o Learning difficulties
  • 25. D/D o Other Causes of Central Corneal Opacities in Infants: • PCG • birth trauma • MPS • congenital hereditary endothelial dystrophy. o Posterior Keratoconus o Congenital Corneal Leukomas and Staphylomas
  • 26. ANIRIDIA • Aniridia is a bilateral developmental disorder characterized by the congenital absence of a normal iris. • Abnormal neuroectodermal development
  • 27. Classification AD 2/3rd No systemic complication genotype+= phenotype sporadic 1/3rd PAX6 MUTATION WAGAR SYNDROME/ Miller synd AR 1% Gillespie syndrome Cerebellar ataxia + MR
  • 28. Clinicopathologic Features Iris • Aniridia: variable severity • Iris and retinal fluorescein : abnormal iris vascular remodeling that resulted in incomplete iris collarettes and decreased retinal foveal avascular zones
  • 29. Lids:MGD Cornea: • Corneal pannus and opacity begin in the peripheral cornea • Microcornea , sclerocornea • Iridocorneal and keratolenticular adhesions • High CCT • Epibulbar dermoid
  • 30. Lens • Localized congenital opacities • progressive • Subluxation (superior)or congenitally absent, or it may be reabsorbed
  • 31. Fundus • Foveal Hypoplasia, optic nerve hypoplasia, choroidal coloboma • Poor visual acuity and nystagmus • Spectral-domain OCT can be used to confirm the presence of foveal hypoplasia in eyes with aniridia, and this correlates well with visual acuity independent of the iris rim width
  • 32. Glaucoma • 75% Pts • late childhood and adolescence Mechanism: synechial angle closure secondary to the pulling of the rudimentary iris tissue by contraction of pre exsisting fibres Glaucoma in aniridia usually develops after rudimentary iris stump rotates anteriorly to progressively cover the trabecular meshwork
  • 33. Other ocular and systemic association • Choroidal colobomas • Persistent pupillary membranes • Sclerocornea • Hallermann-streiff syndrome • Small optic nerve heads • Strabismus • Ptosis • Marfan syndrome with cervical ribs ,dental anomalies, Tracheomalacia and delayed closure of the anterior fontanelle • Retinoblastoma
  • 34. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED SYSTEMIC ANOMALIES Sturge-Weber syndrome Neurofibromatosis Marfan Syndrome Weill-Marchesani syndrome
  • 35. STURGE WEBER SYNDROME • Ancephalotrigeminal angiomatosis • Unilateral • Ipsilateral cavernous hemangioma/ facial cutaneous hemangioma/ leptomeningeal angioma • 30- 70%- Glaucoma • Elevated episcleral venous presssure • CNS symptoms
  • 36. NEUROFIBROMATOSIS • Most common phakomatosis I. NF 1- von Recklinghausen or peripheral NF – Most common – 1: 3000- 5000 – AD, ch 17 • Ectropion uvea • Lisch nodules • Optic nerve glioma • Eyelid neurofibroma • Café au lait • Axillary/inguinal freckling • Cutaneous neurofibromas
  • 37. II. NF2 • Central NF • Chromosome 22 • Posterior subcapsular cataract in adolescence • Not associated with glaucoma • Bilateral acoustic neuroma • Meningioma, schwannoma, ependymoma
  • 38. OTHER SYNDROMES WITH ASSOCIATED GLAUCOMA
  • 39. Chromosomal Anomalies • Trisomy 21 • Trisomy 13 • Trisomy 18 • Turner Syndrome
  • 40. Trisomy 21: Down Syndrome • Mental retardation and atypical facies. • Ocular findings :epicanthus, blepharitis, nystagmus, strabismus, light-colored and spotted irides, keratoconus, cataracts, and congenital glaucoma in infancy, with the typical findings of PCG
  • 41. Trisomy 13-15: Trisomy D Syndrome • Mental retardation, deafness, heart disease, and motor seizures • Ocular findings: microphthalmia, coloboma with cartilage, congenital cataracts, retinal dysplasia, persistent fetal vasculature, and dysembryogenesis of the anterior chamber angle Glaucoma Trisomy 18: Edwards Syndrome • Anterior position of the iris obstructing the anterior chamber angle
  • 42. XO: Turner Syndrome • short stature, • postadolescent females with sexual infantilism and multiple systemic anomalies. • Ocular findings: ptosis, epicanthus, cataract, strabismus, blue sclera, corneal nebulae, and color blindness Developmental glaucoma is rarely associated
  • 43. GLAUCOMA ASSOCIATED WITH SYSTEMIC CONGENITAL DISORDERS  Lowe (Oculocerebrorenal) syndrome  Stickler Syndrome  Zellweger syndrome  Hallermann-Streiff syndrome  Rubinstein-Taybi (broad thumb) syndrome  Oculodentodigital dysplasia  Cockayne syndrome  Fetal alcohol syndrome
  • 44. Cystinosis • Autosomal recessive metabolic disorder • Characterized by widespread accumulation of cystine crystals in ocular and nonocular tissues • Mutation in the gene encoding cystinosin (CTNS: 17p13) • Pupillary block glaucoma caused by the cystine accumulation in the iris stroma
  • 45. Hepatocerebrorenal Syndrome: Zellweger Syndrome Multisystem congenital disorder characterized by • central nervous system abnormalities • Hepatic interstitial fibrosis • Renal cysts  Ocular findings : • Nystagmus • Corneal clouding • Cataracts • Retinal vascular and pigmentary abnormalities, • Optic nerve head lesion • Congenital glaucoma :iridocorneal adhesions may be the mechanism of the glaucoma
  • 46. Hallermann-streiff syndrome • Micrognathia and dwarfism • Ocular findings: • Cataracts • Microphthalmos. • Glaucoma may also occur because of absorption of lens material or associated aniridia or after cataract surgery Kniest dysplasia • Metatropic dwarfism • Autosomal dominant inheritance • Mutations in the COL2A1 gene • Congenital glaucoma
  • 47. Lowe syndrome • Oculocerebrorenal syndrome • Autosomal recessive/x-linked disorder • Mental retardation, renal rickets, aminoaciduria, hypotonia, acidemia,irritability. • Cataract • Glaucoma :secondary to removal of concurrent congenital cataracts. Anterior insertion of the iris, narrowing of the ciliary body band, and decreased visibility of the scleral spur • Microphthalmia, strabismus, nystagmus, miosis, and iris atrophy.
  • 48. 13-year-old boy with Lowe syndrome and glaucoma controlled with medication use. He has aphakia in both eyes after removal of congenital cataracts, and has small stature, developmental delay, and esotropia.
  • 49. Mucopolysaccharidoses • The MPS constitute a group of inherited disorders caused by deficiency of specific lysosomal enzymes needed for the degradation of glycosaminoglycans, or mucopolysaccharides • The accumulation of partially degraded glycosaminoglycans causes interference with cell, tissue, and organ function.
  • 50. • Hurler syndrome • autosomal recessive disease with central nervous system, skeletal, and visceral abnormalities • ocular finding : 1. corneal clouding 2. Glaucoma has also been reported in Hurler syndrome and was thought to result from mucopolysaccharide-containing cells in the aqueous outflow system 3. open-angle glaucoma 4. IOP returned to normal after bone marrow transplantation
  • 51. • Patients with mucopolysaccharidosis type VI, the Maroteaux-Lamy syndrome • Acute or chronic angleclosure glaucoma, due to increased thickness of the peripheral cornea than with pupillary block
  • 52. Nail-Patella Syndrome • dysplasia of the nails and absent or hypoplastic patella as cardinal features, has been associated with open-angle glaucoma. Oculodentodigital Dysplasia • hypoplastic dental enamel, microdontia, bilateral syndactyly, and a characteristic thin nose. • Glaucoma: mild developmental abnormalities of the anterior chamber angle • autosomal dominant mutation in the connexin-43 gene (CJA1, gene locus 6q21)
  • 53. Prader-Willi Syndrome • Muscular hypotonia, hypogonadism, obesity, and mental retardation • Abnormality of chromosome 15. • Ocular findings: oculocutaneous albinism and congenital ectropion uveae, which may be associated with open-angle glaucoma Rubinstein-Taybi Syndrome • mental and motor retardation • typical congenital skeletal deformities with characteristically large, broad thumbs and first toes • Ocular findings: bushy brows, hypertelorism, epicanthus, antimongoloid slant of eyelids, and hyperopia,Infantile or juvenile glaucoma(open angle) • autosomal dominant
  • 54. Stickler Syndrome • Hereditary progressive arthroophthalmopathy • An autosomal dominant connective tissue dysplasia, • Characterized by ocular, orofacial, and generalized skeletal abnormalities • Ocular manifestations : o High myopia o Open-angle glaucoma o Cataracts o Vitreoretinal degeneration, o Retinal detachment o Numerous iris processes, suggestive of a developmental abnormality of the angle neovascular glaucoma
  • 55. • Three forms of Stickler syndrome 1. Type I :mutation in the COL2A1 gene 2. Type II :mutation in the a1-polypeptide of collagen XI (COL11A1) 3. Type III :mutations in the collagen, type XI, alpha 2 gene (COL11A2)
  • 56. • Wagner syndrome :mutation in the gene encoding chondroitin sulfate proteoglycan-2 (CSPG2) a proteoglycan found in the vitreous • Marshall syndrome: mutations in the COL11A1 gene • Weissengacher-Zweymuller syndrome : o also called Pierre Robin syndrome o fetal chondrodysplasia mutation in the COL11A2 gene (as in Stickler syndrome type III).
  • 57. Waardenburg Syndrome • autosomal dominant disorder • lateral displacement of the medial canthi; • hyperplasia of the medial brows; • a prominent, broad root of the nose; • sectorial or complete iris heterochromia; • congenital deafness and a white forelock • defect of neural crest-derived tissues and is caused by a mutation in the PAX3 gene (gene map locus 2q35, • Open-angle glaucoma
  • 58. Walker-Warburg Syndrome • Hydrocephalus (H) • Agyria (A) • Retinal Dysplasia (RD) • With or without Encephalocele (±E), • Multiple eye abnormalities have been reported, including congenital glaucoma Cockayne Syndrome • Autosomal recessive disorder • Characterized by dwarfism and birdlike facies. • Ocular manifestations • “salt and pepper” retinopathy • Cataracts • Corneal ulcers or opacities • Nystagmus • Hypoplastic irides • Irregular pupils