Childhood Glaucoma Flashcards by drew Parlin

What are childhood glaucomas?

developmental glaucomas with congenital anomalies of the filtration angle

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What are the common PE findings in childhood glaucoma?

Enlarged/Cloudy Corneas
Haab striae
Increased IOP

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What is newborn glaucoma? Infantile glaucoma? Late diagnosed Glaucoma?

Birth- 1 month old
2 months - 2 y/o
> 2 y/o

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How is most childhood glaucoma inherited?

Majority of cases are sporadic; however, 10-40% have AR inheritence

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What are the two major genes involved in childhood glaucoma?

CYP1B1= member of cytochrome P450 system, located in the GLC3A locud
LTBP2: transforming growth factor Beta binding protein, located in GLC3C locus

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How are most cases of juvenile glaucoma inherited?

AD inheritence predominates; linked to mutations in TIGR/MYOC gene on GLC1A locus (codes for myocillin)

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What genetic mutations are associated with Axenfeld-Rieger syndrome?

PITX2 and FOXC1

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What genetic mutations are associated with Peters Anomaly?

PITX2, FOXC1, CYP1B1, PAX6

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What are the classic presenting symtpoms in primary congenital glaucoma (PCG)?

epiphora + photophobia +blepharospasm

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What classic PE finding occurs with PCG?

until age 3, increased IOP leads to corneal stretching, buphthalmos and Haab striae

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Is there a gender predominance for PCG? What percentage of cases occur bilaterally?

occurs more commonly in males (65%) and bilaterally in 70 % of patients

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What age ranges for diagnosis of PCG carry the best prognosis? The Best?

Worst prognosis: diagnosed after 1 year

Best prognosis: diagnosed b/w 3 mos - 1 yr

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Of the PCG cases, what percentage are diagosed as newborn glaucoma?

25% of cases diagosed as newborn glaucoma, has a worse prognosis than infantile glaucoma

50% of cases will progress to blindness

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What is the treatment for PCG?

Surgical Intervention

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How old are patients that are diagnosed with juvenile glaucoma? What is the inheritance pattern?

aged 4-35 y/o

AD inheritence

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How is juvenile glaucoma managed?

Most patients require trabeculectomy or glaucoma drainage devices

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What is Axenfeld Rieger Syndrome?

a spectrum of d/o characterized by bilateral anomalous development of neural crest cell derived anterior segment structures

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What is the inheritence pattern for Axenfeld Rieger Syndrome? What percentage of patients develop glaucoma?

Mainly AD inheritence; 50% of patients will develop glaucoma in middle/late childhood

What is the Axenfeld Anomaly?

Posterior embryotoxon (opaque ring around the cornea; prominent and anteriorly displaced schwalbes line) with multiple adherent iris strands

What is the Rieger Anomaly?

Axenfeld anomaly + iris hypoplasia + corectopia

What is Rieger Syndrome?

Rieger Anomaly + development defects of dental/facial bones, redundant periumbilical skin, pituitary anomalies, or hypospadias

What is Peters Anomaly?

typically bilateral, a developmental condition p/w annular corneal opacity (leukoma) in the central visual axis corresponding to a defect in K endothelium and DM +/- adhesions b/w iris strands

What is the inheritence pattern for Peters Anomaly?

usually sporadic; however, AD and AR pattens exist

What percentage of patients with Peters Anomaly go on to develop glaucoma?

50% of patients with angle abnormalities will develop glaucoma

What is aniridia?

a bilateral congenital disorder characterized by iris hypoplasia, often associated with other abnormalities

What percentange of patients with aniridia develop glaucoma? Why does it develop?

50-75% of patients will develop glaucoma | Develops due to anterior rotation of iris stump, covering the TM, leading to synechial angle closure

What is the inheritence pattern for aniridia?

Most cases are familial, transmitted with AD inheritance 20% of sporadic cases are associated with chromosomal deltion that includes wilms tumor 1 gene (WTG1) Rarely associated with Gillespie Syndrome)

What is Sturge-Weber Syndrome?

phakomatoses with ipsilateral facial cutaneous hemangioma and ipsilateral cavernous hemangioma of the choroid + ipsilateral leptomeningial angiomas typically unilateral

What percentage of children with Sturge-Weber develop glaucoma?

30-70 % of children will develop glaucoma | more commonly develops in children with nevus flammeus that involves the eyelids

What is the genetic mutation associated with neurofibromatosus? What is the predominant inheritence pattern?

associated with 11q17 mutation | AD inheritence in 50% of cases

What is a classic finding in NF, that when seen in infants should prompt NF workup?

Ectropion Uveae

What other PE findings occur in NF?

``` Ectropion Uveae Lisch Nodules (pigmented iris hamartomas) ON gliomas Eyelid neurofibromas glaucoma ```

What are causes of secondary glaucomas in children?

CE during 1st year of life Post-Op complications Small K diameter

What is normal corneal diameter in children? What is the minimum cutoff to diagnose an enlarged cornea in a child?

nL newborn cornea is 10 mm | eyes with congenital glaucoma have k diameter > 12 mm during 1st year of life

What are anesthetic agents that dont change IOP in children after administration?

Chloral hydrate | ketamine

What is the characteristic appearance of the AC angle in a child with PCG?

Angle is deep with high anterior iris insertion angle recess is absent iris root appears as a "scalloped line of glistening tissue" (known as a barkan membrane)

What is the definitive management of PCG?

surgical intervention (goniotomy and trabeculotomy are preferred methods) goniotomy if cornea is clear; trab is k is cloudy

Describe goniotomy

the angle is visualized, a needle knife is passed across the AC, and a superficial cut is made in the uveal TM Incision is made above iris root, passing from untreated to treated areas

Describe a trabeculotomy

schlemms canal is cannulated via an ab externo approach, and the TM is opened by breaking schlemms canal into the AC

When should trabeculectomy or drainage device implantation occur?

Should be considered when >2 unsuccessful angle surgeries have been performed, when Rx therapy is inadequate, or in children with other forms of glaucoma

What is cyclodestruction? When is it used?

it decreases IOP by destroying regions of the CB, causing decreased aqueous production used in refractory cases

What medical therapy is considered first line in children? 2nd line?

Topical Beta blockers are first line, CAIs are second line

What topical glaucoma medication is contraindicated in children? Why?

Alpha adrenergics are contraindicated in children < 3 due to side effect profile (apnea, hypotension, bradycardia, hypotonia, hypothermia, and somnolence)

What cases of childhood glaucoma require lifelong follow up?

All cases of childhood glaucoma require lifelong follow up