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DEFINITIONS AND         CLASSIFICATIONSPrimary congenital/ infantile glaucoma   Birth or w/in first few weeks of life  ...
DEFINITIONS AND         CLASSIFICATIONSPrimary Juvenile glaucoma   Recognized early in childhood (after 3 yrs of age) or...
EPIDEMIOLOGY AND           GENETICSHeterogenous in the pediatric age groupPrimary congenital glaucoma –   50-70-% of th...
EPIDEMIOLOGY AND          GENETICS                            3 major loci of recessivelySome pedigrees suggest      inh...
PATHOPHYSIOLOGY 2 MAIN GROUPS (THEORIES        Exact mechanism of OF PATHOGENESIS)   Cellular or membrane              ...
CLINICAL FEATURES AND      EXAMINATIONPRIMARY CONGENITAL GLAUCOMA   Presents Classic triad in newborn     Epiphora     ...
CLINICAL FEATURES AND      EXAMINATIONManifestations:  Buphthalmos with   corneal enlargement ⦣   12 mm in diameter   du...
CLINICAL FEATURES AND      EXAMINATIONManifestations (Continuation):  Reduced visual acuity    As a result of:      Op...
CLINICAL FEATURES AND      EXAMINATIONManifestations (Continuation):   Clinicians successfully measure IOP of an infant ...
CLINICAL FEATURES AND      EXAMINATION Gonioscopy under anesthesia is recommended In primary childhood glaucoma   The a...
CLINICAL FEATURES AND      EXAMINATION Corneal edema Visualization of the optic disc is part of routine  examination : d...
DIFFERENTIAL DIAGNOSIS Excessive tearing-                Corneal opacification and  obstruction of the lacrimal  drainag...
LONG-TERM PROGNOSIS         AND FOLLOW-UP The initial procedure of   choice is   goniotomy or    trabeculotomy if the   ...
 Medical management: ⦣-adrenergic antagonists or  carbonic anhydrase  inhibitors (CAI) – may be  used prior to surgery t...
DEVELOPMENTAL GLAUCOMAS WITH      ASSOCIATED OCULAR ANOMALIESASSOCIATED OCULAR ANOMALIES microphthalmos Corneal anomalie...
DEVELOPMENTAL GLAUCOMAS WITH      ASSOCIATED OCULAR ANOMALIESAXENFELD-RIEGER SYNDROME (A-R) Group of bilateral congenital...
Axenfeld-Rieger Syndrome Iridocorneal adhesions  to Schwalbe line -  range from threadlike  to broad bands of iris  tissu...
DEVELOPMENTAL GLAUCOMAS WITH        ASSOCIATED OCULAR ANOMALIESPETER’S ANOMALY Condition of central corneal   opacity wit...
DEVELOPMENTAL GLAUCOMAS WITH      ASSOCIATED OCULAR ANOMALIESPETER’S ANOMALY (Continuation) Have defects in posterior str...
PETER’S ANOMALY
DEVELOPMENTAL GLAUCOMAS WITH      ASSOCIATED OCULAR ANOMALIESANIRIDIA Bilateral condition characterized by a variable iri...
DEVELOPMENTAL GLAUCOMAS WITH     ASSOCIATED OCULAR ANOMALIESANIRIDIA (continuation) 20% of sporadic cases are associated ...
ANIRIDIA
DEVELOPMENTAL GLAUCOMAS WITH      ASSOCIATED SYSTEMIC ANOMALIESASSOCIATED SYSTEMIC ANOMALIES ANDSYNDROMESSystemic disorder...
DEVELOPMENTAL GLAUCOMAS WITH      ASSOCIATED SYSTEMIC ANOMALIESSTURGE-WEBER SYNDROME/ ENCEPHALOTRIGEMINALANGIOMATOSIS A u...
STURGE-WEBER SYNDROME/ENCEPHALOTRIGEMINAL ANGIOMATOSIS
GLAUCOMA ASSOCIATED WITH SYSTEMIC   CONGENITAL SYNDROMES, WITH     REPORTED CHROMOSOMAL         ABNORMALITIESTrisomy 21 (...
GLAUCOMA ASSOCIATED WITHSYSTEMIC CONGENITAL DISORDERSLowe (Oculocerebrorenal) syndromeStickler SyndromeZellweger syndro...
DEVELOPMENTAL GLAUCOMAS WITH     ASSOCIATED SYSTEMIC ANOMALIESNEUROFIBROMATOSIS Most common phakomatosis 2 forms are rec...
DEVELOPMENTAL GLAUCOMAS WITH     ASSOCIATED SYSTEMIC ANOMALIESNEUROFIBROMATOSIS  NF2 (central neurofibromatosis   Locali...
DEVELOPMENTAL GLAUCOMAS WITH     ASSOCIATED SYSTEMIC ANOMALIESOTHER SECONDARY GLAUCOMAS  Causes in infants are same in ad...
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Childhood gaucoma 2
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Childhood gaucoma 2

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  • Buphthalmos- enlargement of the globe
  • N.B. - IOP:10-12mmHg ; Cornea Diameter: 9.5-10.5mm ; 1 y.o- 10-11.5 ; more than 12.5= abnormalAL= NB:18mm ; Infant: 19.5mm ; Adult: 23-24mm
  • Haabstriae=Tears in Descemet’s membrane; Because of corneal stretching; Causes large degree of astigmatism
  • Astigmatism- due to descemet’s tearAmblyopia- caused by corneal opacity itself or by refractive error as the eye lengthens under pressure and becomes more myopic
  • Gonioscopy: Angles typically open
  • corneal edema prevents an adequate view of the angle – remove epithelium with a scalpel blade or a cotton applicator soaked in 70% alcoholAlternatively, the topical application of a hyperosmotic solution is sometimes effective
  • Descemet’s tears: in glaucoma( Haab’s)- horizontal ; in forceps delivery- vertical / oblique
  • In goniotomy, the fibers of the trabecular meshwork are cut to eliminate any resistance to fluid flow imposed by an incompletely developed trabecular meshwork. In trabeculotomy, a probe is used to tear through the trabecular meshwork to open it and allow fluid flow. Cyclophotocoagulation- should be avoided when possible because of its adverse effects on the lens and the retina
  • - ᵦ-adrenergic antagonists - occlude the naso-lacrimal drainage system for at least 3 mins. And to be alert for apnea and hypotensionCAIs - assessment for possible acidosis, hypokalemia and feeding problemsα₂-Adrenergic agonist- should be avoided for CNS adverse effects such as apnea
  • Transcript of "Childhood gaucoma 2"

    1. 1. DEFINITIONS AND CLASSIFICATIONSPrimary congenital/ infantile glaucoma  Birth or w/in first few weeks of life  Abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformationSecondary infantile glaucoma  Associated with inflammatory, neoplastic, hamartomatous, metabolic or other congenital abnormalities
    2. 2. DEFINITIONS AND CLASSIFICATIONSPrimary Juvenile glaucoma  Recognized early in childhood (after 3 yrs of age) or early in adulthoodDevelopmental glaucomas  Embraces both primary congenital and secondary glaucoma associated with other developmental anomalies, either ocular or systemic  Appear when the onset of elevated IOP occurs before the age of 3 in primary congenital glaucoma or in pediatric glaucomas associated with other ocular and/or systemic abnormalities
    3. 3. EPIDEMIOLOGY AND GENETICSHeterogenous in the pediatric age groupPrimary congenital glaucoma –  50-70-% of the congenital glaucomas  Occurs less frequent than primary adult glaucoma  Rare – 1:10,000 birthsOf pediatric glaucoma cases  60% - diagnosed by the age of 6 mos  80% within the 1st year of life  65% approximately are male  70%- involvement is bilateral
    4. 4. EPIDEMIOLOGY AND GENETICS  3 major loci of recessivelySome pedigrees suggest inherited primary congenital autosomal dominant but galucoma  GLC3A - on chromosome 2 more patient shows (2p21), recessive pattern with  GLC3B -on chromosome 1 (1p36) incomplete or variable  GLC3C – on chromosome 14 penetrance and possibly (14q24.3) multifactorial 0 Genetic counselling- for inheritance parents of child w/ pediatric glaucoma & adults w/ childhood onset glaucoma
    5. 5. PATHOPHYSIOLOGY 2 MAIN GROUPS (THEORIES Exact mechanism of OF PATHOGENESIS)  Cellular or membrane primary congenital abnormality in trabecular glaucoma remains meshwork is the primary unproven pathologic mechanism  Either anomalous Developmental arrest in impermeable TM or a the late embryonic Barkan membrane covering the trabecular meshwork period suggested  Anterior Segment anomaly  Abnormal insertion of ciliary muscle
    6. 6. CLINICAL FEATURES AND EXAMINATIONPRIMARY CONGENITAL GLAUCOMA  Presents Classic triad in newborn Epiphora Photophobia BlepharospasmDiagnosis  IOP, corneal diameter and axial length, gonioscopy and ophthalmoscopy  Optic nerve photography for future follow up
    7. 7. CLINICAL FEATURES AND EXAMINATIONManifestations:  Buphthalmos with corneal enlargement ⦣ 12 mm in diameter during first year of life  Corneal edema Mild haze to dense opacification of corneal stroma  Haab striae
    8. 8. CLINICAL FEATURES AND EXAMINATIONManifestations (Continuation):  Reduced visual acuity As a result of: Optic atrophy Corneal clouding Astigmatism Amblyopia Cataract Lens dislocation Retinal detachment
    9. 9. CLINICAL FEATURES AND EXAMINATIONManifestations (Continuation):  Clinicians successfully measure IOP of an infant younger than 6 mos. while feeding or immediately after (w/o sedation or anethesia)  Infants require anesthesiaSeveral implications of anesthesia  Lowers IOP – exception is Ketamine which increases IOP  dehydration- which lowers also IOP  Normal IOP of infants under anesthesia ranges from 10- 15 mmHg
    10. 10. CLINICAL FEATURES AND EXAMINATION Gonioscopy under anesthesia is recommended In primary childhood glaucoma  The anterior chamber is characteristically deep with a normal appearance to the iris  High and flat iris insertion  Absence of angle recess  Peripheral iris hypoplasia  Tenting of the peripheral iris pigment epithelium  Thickened uveal trabecular meshwork
    11. 11. CLINICAL FEATURES AND EXAMINATION Corneal edema Visualization of the optic disc is part of routine examination : direct and indirect ophthalmoscopy as well as photograph of the disc  The optic nerve head of an infant without glaucoma is pink with a small physiologic cup  With glaucoma: enlargement of the cup caused by high IOP
    12. 12. DIFFERENTIAL DIAGNOSIS Excessive tearing-  Corneal opacification and obstruction of the lacrimal drainage system clouding: Enlarged corneas: X-linked  Birth trauma congenital megalocornea w/o  Dysgeneses (Peter’s anomaly glaucoma, exophthalmos; shallow orbits and sclerocornea) Tears in Descemet’s  Dystrophies membrane resulting from  Choristomas birth trauma – associated with forceps-assisted  Intrauterine inflammation deliveries  Inborn errors of metabolism Optic nerve abnormalities:  keratomalacia  Coloboma, hypoplasia, malfor mation, physiologic cupping  Keratitis
    13. 13. LONG-TERM PROGNOSIS AND FOLLOW-UP The initial procedure of choice is  goniotomy or trabeculotomy if the cornea is clear  Trabeculotomy ab externo if the cornea is hazy Trabeculectomy or shunt procedures – for failed goniotomy and trabeculotomy Cyclophotocoagulation- in intractable cases
    14. 14.  Medical management: ⦣-adrenergic antagonists or carbonic anhydrase inhibitors (CAI) – may be used prior to surgery to control IOP and help clear a cloudy cornea
    15. 15. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED OCULAR ANOMALIESASSOCIATED OCULAR ANOMALIES microphthalmos Corneal anomalies (microcornea, megalocornea) Anterior segment dysgenesis (Axenfeld-Rieger syndrome, Peters anomaly, iridoschisis) Aniridia Lens anomalies (congenital cataracts, lens dislocation) Persistent fetal vasculature (persistent hyperplastic primary vitreous) Congenital ectropion-uvea syndrome
    16. 16. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED OCULAR ANOMALIESAXENFELD-RIEGER SYNDROME (A-R) Group of bilateral congenital anomalies that may include abnormal development of the anterior chamber angle, the iris, and the trabecular meshwork 50% associated with glaucoma Result of abnormal development of tissues derived from the neural crest Combination of Axenfield anomaly, Rieger Anomaly and Rieger Syndrome Typical corneal abnormality - Posterior embryotoxon – a prominent and anteriorly displaced Schwalbe line
    17. 17. Axenfeld-Rieger Syndrome Iridocorneal adhesions to Schwalbe line - range from threadlike to broad bands of iris tissue Iris range from normal to markedly atrophic with corectopia and ectropion uveae
    18. 18. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED OCULAR ANOMALIESPETER’S ANOMALY Condition of central corneal opacity with adhesions between the central iris and posterior cornea Lens may be clear or cataractous Sporadic, although autosomal dominat and recessive forms have been reported 50% associated with glaucoma Annular corneal opacity (leukoma) in the central visual axis, with iris strands extending from collarette to the corneal opacity Leukoma – corresponds to a central defect in the corneal endothelium and underlying Descemet’s membrane
    19. 19. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED OCULAR ANOMALIESPETER’S ANOMALY (Continuation) Have defects in posterior stroma, descemet’s membrane and endothelium without extension of iris strands to the edge of the corneal leukoma Lens may be normal in position, w/ or w/o cataract or the lens may be adherent the posterior layers of the cornea
    20. 20. PETER’S ANOMALY
    21. 21. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED OCULAR ANOMALIESANIRIDIA Bilateral condition characterized by a variable iris hypoplasia that often appears as complete absence of the iris May have limbal stem cell abnormalities that eventually result in a pannus that begins in the peripheral cornea and slowly extends centrally Cataracts may be present at birth or may develop later in life May also have foveal hypoplasia that leads to reduced vision Mostly familial at transmitted in an autosomal dominant form
    22. 22. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED OCULAR ANOMALIESANIRIDIA (continuation) 20% of sporadic cases are associated with a chromosomal deletion and an increase risk of Wilms tumor 50-75% develop glaucoma Glaucoma in aniridia usually develops after rudimentary iris stump rotates anteriorly to progressively cover the trabecular meshwork
    23. 23. ANIRIDIA
    24. 24. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED SYSTEMIC ANOMALIESASSOCIATED SYSTEMIC ANOMALIES ANDSYNDROMESSystemic disorders associated with pediatric glaucoma: Sturge-Weber syndrome Neurofibromatosis Marfan Syndrome Weill-Marchesani syndrome
    25. 25. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED SYSTEMIC ANOMALIESSTURGE-WEBER SYNDROME/ ENCEPHALOTRIGEMINALANGIOMATOSIS A unilateral condition with ipsilateral facial cutaneous hemangioma, ipsilateral hemangioma of the choroid and ipsilateral leptomeningeal angioma No sex predilection and no inheritance pattern Glaucoma occurs at 30%-70% of children with this syndrome Infants with this syndrome – thought to be due to congenital anterior chamber anomalies Glaucoma developing after the first decade of life - result of elevated episcleral venous pressure causing elevated IOP
    26. 26. STURGE-WEBER SYNDROME/ENCEPHALOTRIGEMINAL ANGIOMATOSIS
    27. 27. GLAUCOMA ASSOCIATED WITH SYSTEMIC CONGENITAL SYNDROMES, WITH REPORTED CHROMOSOMAL ABNORMALITIESTrisomy 21 (Down Syndrome, Trisomy G syndrome)Trisomy 13 (Patau syndrome)Trisomy 18 (Edwars syndrome, Trisomy E syndrome)Turner (XO/XX) syndrome
    28. 28. GLAUCOMA ASSOCIATED WITHSYSTEMIC CONGENITAL DISORDERSLowe (Oculocerebrorenal) syndromeStickler SyndromeZellweger syndromeHallermann-Streiff syndromeRubinstein-Taybi (broad thumb) syndromeOculodentodigital dysplasiaPrader-Will syndromeCockayne syndromeFetal alcohol syndrome
    29. 29. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED SYSTEMIC ANOMALIESNEUROFIBROMATOSIS Most common phakomatosis 2 forms are recognized  NF1 (von Recklinghausen disease/ Peripheral Neurofibromatosis)  Most commom 1:3000-5000  Localized to band 11 of the long arm of chromosome 17  Autosomal dominant about half the time  Ectropion uveae – common ocular finding  Ocular Findings: Lisch nodules, optic nerve gliomas, eyelid neurofibromas and glaucoma  Systemic Findings: cutaneous café-au-lait spots, cutaneous nerofibromas, and auxillary or inguinal freckling
    30. 30. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED SYSTEMIC ANOMALIESNEUROFIBROMATOSIS  NF2 (central neurofibromatosis  Localized to chromosome 22  Principal ocular finding: development of posterior subcapsular cataracts in adolescence or young adulthood  Not associated with glaucoma  Defined by the presence of bilateral acoustic neuromas  Frequently accompanied by multiple other nervous system tumors
    31. 31. DEVELOPMENTAL GLAUCOMAS WITH ASSOCIATED SYSTEMIC ANOMALIESOTHER SECONDARY GLAUCOMAS  Causes in infants are same in adults  Trauma, inflammation, retinopathy of pre-maturity, lens associated disorders, corticosteroid use, pigmentary glaucoma and intraocular tumors  Intraocular tumors in infants and children: retinoblastoma, juvenile xanthogranuloma, medulloepithelioma  Rubella and congenital cataract are also important associated conditions  Emphasis on removal of all residual cortex during cataract surgery may reduce the occurrence of pediatric aphakic glaucoma following surgery
    32. 32. THANK YOU!
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