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11 Primary Congenital Glaucoma

we're gonna talk about primary

congenital glaucoma there are lots of

glaucoma's that can occur in children

and babies as we can see on this list

primary congenital glaucoma is just one

of those there are lots of syndrome at

glaucoma's and those are features of

other talks in this series and then

anything that can cause glaucoma in an

adult like me a vascular ization or

steroids or trauma can also cause

glaucoma and the baby we're not going to

talk specifically about those so we're

gonna just focus on primary congenital

glaucoma

we know that the fetal angle is of

neural crest derivation in utero it lies

behind the cornea and during development

it moves posteriorly and at Birth is

around the level of the sclera spur and

this posterior migration continues

throughout the first year of life in

primary congenital glaucoma this

posterior migration is arrested for

reasons that aren't clear the angle has

the appearance of that of a fetus of

seven to eight months of gestation so

the iris insertion is high closer to the

cornea this leads to compression of the

trabecular meshwork beams which

increases outflow resistance these

compress beams are glisteny and take on

the appearance of a membrane and

therefore had the name bark and membrane

but there really is no actual membrane

it's just these compacted trabecular

beams primary congenital glaucoma

represents the majority of congenital

glaucoma somewhere 50 to 70 percent

about one in 10,000 births as primary

congenital glaucoma in population where

intermarriage is common the rates are

much higher rates and Gypsies are very

high and in certain other countries

where

people are have a smaller gene pool by

definition the disease is glaucoma in

someone before the age of three after at

the age of three the eye does not grow

much in response the inter ocular

pressure it typically occurs before the

age of one most commonly you'll see

these in kids who are between four and

eight months of age because that's when

they start to crank up their aqueous

production to be more like an adult and

less like a fetus and that's why if you

see a baby who's two or three days old

with cloudy cornea the prognosis is poor

because they are unable to deal with

even fetal levels of aqueous production

more boys and girls have this disease

it's a recessive disease sometimes that

makes it look like it's sporadic there

are two known genes see why p1 v1 and

ltb p2 those are important to know I

think if you have a patient who has

primary congenital glaucoma the risk to

their children is still quite low but

higher than the general population and

so somewhere around 2% so these two

genes I think are worth committing to

memory the symptoms all have to do with

cloudy corneas that break up the light

and cause glare so tearing photophobia

blepharospasm this little boy could be

crying for a number of reasons but when

you look carefully at his corneas and

his eyes you really don't see his pupils

and you see this broken up reflex of a

light off of his corneal epithelium most

times its bilateral the diagnosis is

easier to make if it's unilateral

because you see the difference in eye

size quite strikingly you have poop

thalamus or oxide these very large eyes

because the eye is growing and respond

constant r ocular pressure megalo cornea

so this boy has very large corneas but

not cloudy corneas making the diagnosis

in him quite a bit more difficult

you get breaks and des amaze membrane

called hob stria that's where the cornea

is growing so fast that it just ruptures

des amaze and so you see these tears

there are always two sides to the tear

and in congenital glaucoma they're

typically horizontal or circumferential

like we see here this is a really pretty

picture of a hob stria you can see

there's another little one up here and

here there's actually a little flap of

decimate that is folded over this is

showing corneal edema you can see how

the light reflects off the cornea is not

crisp it's broken up by the edema and

also notice how difficult it is to see

this little boy's pupil and that's

something that we can tell the parents

to look for they're always wanting to

know how to tell if the pressure's up so

in a quarter of these patients of

corneas are cloudy at birth 60% by age

of six months it's important to remember

that in these children it does not take

much pressure to cause corneal edema so

they can have corneal edema at pressures

in the 20s whereas that it would never

happen in an adult they have an immature

angle with the high insertion and the

sheen that looks like a membrane this

just shows the angles of some kids with

primary congenital glaucoma you can see

here this prominent greater circle of

the iris and you can sometimes see that

in a normal high and also the sense that

the iris and the periphery is rarefied

or thin you can see that especially in

this Lee Allen painting just like any

glaucoma they can get optic nerve head

cupping but that cupping

can be reversible so this is a ten year

old boy who had high pressures

he had had a trabeculae to me before so

I repeated this trabeculae to me and you

can see the marked reversal of cupping

they have very deep interior chambers

that goes along with they're very big I

usually highly myopic after the age of

three the cornea stops enlarging but the

sclera can continue to stretch some

leading to increased myopia and little

babies we can often examine them while

they're feeding we have found the

rebound phenomena to allow us to check

the pressures and babies and children

where we really couldn't before

later we do an exam under anesthesia

remember that most anesthetics decrease

inter ocular pressure and so you need to

have a relationship with the

anesthesiologist such that they will let

you swoop in and check the pressures

under the light as possible anesthesia

and then we get out of their way and let

them get the baby put completely to

sleep we measure the pressures corneal

diameters do a slit-lamp examination

direct gone'a skippy refract them they

will get more myopic as the eye gets

Baker look at the optic nerve head and

then follow serial axial eiling's

remember measuring pressure in these

children is not necessarily easy the two

nominees are designed for adult eyes I

think they're a little bit less accurate

and infants and children and sometimes

different denominators seem to give

different readings over time I've come

to rely on the Perkins the handheld

Goldman Appling ating tonometry the most

although there are studies that show

that Numa tonometry may be better I have

never liked the new mitten ometer we

actually don't even have one anymore so

I tend to use the Perkins Appling 18:10

ometer remember that the normal pressure

in an infant is about eleven millimeter

mercury these are some direct lenses

that we could use for

gone'a skippy in these babies the kepi

lens is the prototype lens the Barkin is

more of a surgical lens and then the

Swan Jacobs lens which is my preferred

lens as just a little piece of the kepi

lens on a handle this is a sedated baby

just using a portable slit lamp and a

swan Jacobs lens to look at their angle

you can see that the baby's head is

turned away from me and I'm looking

directly at the angle and then the right

frame you can see the view that one gets

this just shows following axial eye

links here you can see the normal axial

eye length over the growth of a child

from birth to 30 months this is a the

right and left eye of a patient whose

eyes are big in our growing they have

surgery and that growth falls off

towards the normal growth curve and then

gets out of control again and back under

control you know in our clinic we find

actual eye lengths to be a very useful

way of following these babies whenever

you put a baby to sleep to do an

examination and under anesthesia you

should be prepared to do immediate

surgery if indicated by the findings

anesthesia and a baby is not a trivial

thing and bringing them back for a

second surgery is not really fair it's

primarily a surgical disease with either

a gone'a t'me which would require a

fairly clear cornea or a trabecular Demi

and these are covered in Section 46 so

I'm not going to dwell on those at all

here and then if angle surgery fails

then we treat them a little bit more

like an adult with medical management

trabeculectomy

tube Sean Seaton's or Psychlo

photocoagulation there are some caveats

and medical management really no drug

has been thoroughly evaluated in infants

and remember that they have a very tiny

blood

compared to an adult which magnifies a

risk of systemic complications so we

really need to teach parents to do

nasolacrimal duct occlusion avoid

Vermont adine in children under 4 or 5

years of age let me just reiterate that

you can kill somebody if you give an

infant pramana D and it crosses a

blood-brain barrier and can cause fatal

sedation be cautious with non-selective

beta blockers like timolol and maybe

consider a selective beta blocker or

quarter percent timolol cholinergic

Slyke pilocarpine can cause a

paradoxical pressure rise so might want

to consider topical carbonic anhydrase

inhibitors like doors Olamide or Bryn's

Olamide then a selective beta blocker

like the tax law prostaglandin analogues

should be safe but they don't work great

in primary congenital glaucoma APRA

clonidine is an alpha adrenergic agonist

like Vermont II but it does not cross

the blood-brain barrier and if you're

desperate I think it would be safe to

try that and then one can use oral

carbonic anhydrase inhibitors like

acetazolamide in a dose of 10 to 20

milligrams per kilogram per day the

surgeries that we do in adults don't

work very well in children children are

great wound healers and that is not a

great thing for trabeculectomy they also

not likely to let us do laser suture

lysis or suture release tube shunts like

barbells and ah meds are effective but

they have more complications in children

than in adults the tube can pull out of

the anterior chamber as the eye grows

and they seem to migrate forward towards

the cornea over time cyclo

photocoagulation can be used certainly a

very last-ditch effort children are good

at reconstituting their ciliary body

function and so that may need to be

repeated multiple times with

the threat of hypotony these little kids

can be the most rewarding of the most

frustrating patience to take care of in

some children a single surgery will

provide lifelong control and at other

children nothing we do seems to work so

this is the good these twins I saw when

there were two days of age they had

cloudy corneas pressures in the 40s I

did trabeculae Tamizh on all four dies

at four days of age and this shows the

normal growth curve and their eyes were

big compared to normal at the beginning

this is the right and left eye of one of

these children and though those eyes

actually fell below the normal growth

curve I can't fully explain that but

they certainly didn't grow and this is

that little girl at age 11 on nomads

with very healthy-looking nerves no

evidence of glaucoma the bad our

children that we get late like this this

little girl had symptoms at birth that

were ignored by her pediatrician she was

seen at nine months of age with sixteen

millimeter corneas that are extremely

scarred she's had over five operations

in each eye for glaucoma as well as

corneal transplantation and now as an

adult with hand motion vision those

diagnosed between two and eight months

have a relatively good prognosis those

diagnosed at birth and that are not

diagnosed until late after the disease

has progressed have hoarse prognosis

there are lots of sequelae that mostly

come from the very large eyes high

myopia easily ruptured Globes retinal

detachment ectopia lentes corneal

exposure cataract corneal scarring and

then adult glaucoma we can't forget

amblyopia management those of us who do

glaucoma for a living need to enlist the

help of pediatric ophthalmologist to

help us with this the differential

diagnosis for tearing nasolacrimal duct

occlusion so that's by far more

common than primary congenital glaucoma

but if you're seeing a child who's

tearing you need to think about it

boob thalamus one might have high myopia

exophthalmos for shallow orbits this is

a photo of a woman with unilateral high

myopia and it doesn't really look like

congenital glaucoma because her cornea

is a normal size one can have just large

corneas that like this little boy would

make a little cornea one can have cracks

in the corneal endothelium like forceps

tears which are usually vertical unlike

the Haab stria which are usually

horizontal or circumferential there is a

cloudy cornea differential called

stumped which eye comes up a lot and so

that includes several things the two of

which I think are the most difficult to

separate out are the mucopolysaccharides

and endothelial dystrophy but to just to

go through their sclera cornea tears we

already talked about ulcers that these

are pictures of mucopolysaccharides

o'seas you can see the cloudiness but

there's no poop vamos petersen Amelie

we'll talk about in a sec of separate

lecture you can see though that the

periphery here is quite clear and a

filial dystrophy like shed and then

dermoid x' is on the list but i don't

think i ever have ever been confused by

dermoid i think that this is a disease

that needs to be cared for by a small

number of people because it doesn't come

along a lot and so you'd like to have

either a pediatric ophthalmologist or

the glaucoma specialist who are

comfortable doing these kinds of

surgeries it's not something that

somebody should do once every ten years

it's really important for us to educate

our colleagues who are in obstetrics

pediatrics and family medicine to have

our eyes open for this disease because

these kids are going to present often to

the pediatrician let me just say a few

words about juvenile open-angle glaucoma

so these are people

who are between the ages of 30 and 40

between the ages of 3 and 40 they have

normal Anatomy Konya Skippy is normal

their angles of the drainage system

looks completely normal they often have

a strong family history so if you see

somebody with a strongly dominant

history very high pressures the

likelihood is high that that patient has

a Maya Silla mutation so Maya Silla is

an important gene to know about it

causes most cases of dominant juvenile

glaucoma it also causes a lot of non

dominant even Agua coma and three to

five percent of adult primary open-angle

glaucoma the key points congenital

glaucoma is rare in most countries it is

autosomal recessive and there are two

important genes uyp 1 b1 and lt b p2

that are the two known genes as of today

it is a surgical disease and avoid

pramana dean so you probably won't see a

lot of primary congenital glaucoma

patients in your practice but it's a

really important disease than something

that you need to know about