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Congenital Abnormalities

by Carlo Raj, MD
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    00:01 To begin with congenital issues and what kind of eye descriptions that you?re looking for, for example, if you find that a newborn, a newborn is then to have cleft palate and cleft lip.

    00:17 In addition, you find there to be Trisomy 13, then here?s a condition called Patau syndrome.

    00:25 Emphasize Patau because we have cleft lip and cleft palate.

    00:31 So a few Ps there to help you out.

    00:33 Now far from the oral issues that you might have, the type of eyes that this newborn may have might be small, we call this microphthalmos.

    00:45 Hear that well for Trisomy 13.

    00:48 If your child born with Trisomy 21, Down Syndrome you find there to be decrease in let?s say, alpha fetoprotein or such.

    00:58 If you take a look at the eyes here they?re set apart wide, it's called hypertelorism.

    01:05 See the eye?s characteristic feature of down, isn't it? And we?ll take a look at the inside of the eye a little bit further, especially around the iris.

    01:16 Can you predict as to what I?m gonna show you next? Good, brushfield spots.

    01:22 Our focus only is going to be in the eye region.

    01:24 If you can take a look at closer of that iris, please.

    01:29 You find this areas that we then called brushfield spots.

    01:32 What the heck are they? Well, it?s the stromal hyperplasia surrounded by hypoplasia.

    01:40 In other words your looking for areas rather blanched to the areas that are speckled there? They?re whitish around the iris? That?s not normal.

    01:49 This is the same patient from the previous picture in which now I?m showing you in great detail the brushfield spots.

    01:58 Normal in children but frequently found in children obviously with down syndrome.

    02:03 A lot more because of this speculator, the sprinkling of the blanched areas that you find in the iris.

    02:12 What is it? Stromal hyperplasia.

    02:13 Keep that in mind.

    02:15 I want to see now to take a look at the eyelid and the disorders that you might have here.

    02:22 The picture that you see here is that of a stye.

    02:26 The stye is an infection, and so therefore the most common agent or bacteria to cause a stye is staph aureus, is a rather painful bacterial infection, stye.

    02:40 The bottom picture here is showing you if it?s a granulomatous inflammation.

    02:47 A granulomatous inflammation.

    02:49 Remember the name of the glands that we have within our eyelid? Eyelid, picture eyelid.

    02:55 Pull that out if you need too.

    02:57 Underneath the eyelid we have these glands, and these glands are called meibomian glands.

    03:02 If these meibomian gland then undergo granulomatous inflammation, then they got occluded, what happens then to the eyelid is then called chalazion.

    03:11 Please note that it?s a granulomatous inflammation, that?s important.

    03:15 And what happens now is the meibomian gland which is the gland of the eyelid may then become obstructed.

    03:22 Luckily, it?s self-limited and in an average should disappear or subside by two months.

    03:30 We revisit the structures of the eye, and at this point I give you an introduction, a few general issues here gave you some issues with the eyelid.

    03:43 And now specifically we?re going to the conjunctiva.

    03:46 Identify the conjunctiva.

    03:48 So now imagine if you?re part of conjunctivitis, or in other words conjunctiva that appears red.

    03:57 It is not of the cornea, keep it separate.

    04:00 The cornea, outside of it, will then be the conjunctiva.

    04:04 Wouldn?t it? In other words, the scleral aspect, the white of the eye.

    04:10 Let?s take a look at a few.

    04:11 Here we have, ophthalmia neonatorum.

    04:15 What this means is first take a look at the eye, and this is a newborn, and what may then have happened is that the mother had an infection such as maybe gonorrhea or chlamydia.

    04:26 I'm gonna give you a timeline as to when after birth you would expect the eye to become then purulent.

    04:31 It?s known as ophthalmia neonatorum, know that in the US it?s actually rare because we have proper screening methods and we are able to take care of the mother or the newborn ASAP.

    04:42 But nonetheless, it could exist.

    04:44 The pathogens once again are Neisseria gonorrhoeae, and here it may then appear within the first week.

    04:52 In other works a couple of days after birth.

    04:54 Where as if we talked about Chlamydia trachomatis, Then we talk about second week and approximately, let?s say 3 to 10 days or a little bit later.

    05:03 But these may then cause the crust-like lesions that I had just given you in a new born called ophthalmia neonatorum.

    05:12 If it is Neiserria gonorrhoeaea, the drug of choice will be ceftriaxone, and then if it is trachomatis then it?ll be erythromycin and often times, prophylactically, we give erythromycin so that this doesn't occur.

    05:25 Could maybe more commonly see this with Chlamydia, but we have proper methods to manage it.

    05:32 Keep this in mind.

    05:33 Purulent conjunctivitis in a newborn, ophthalmia neonatorum.

    05:40 Continuing our discussion of conjunctival disorders, we?ll take a look at three different type of conjunctivitis The first one, bacterial.

    05:47 So if it is bacterial, remember, I?m not referring to what we talked about earlier, were with purulent conjunctivitis of the newborn.

    05:55 That would then be referred to as being ophthalmia neonatorum.

    05:58 I want to give you a different set of organisms here, as I clear.

    06:02 So purulent conjunctivitis usually blurry vision, crusted, purulent; so therefore, we?re looking at pus.

    06:09 It is contagious.

    06:11 Now here are the common pathogens that you can expect with bacterial conjunctivitis.

    06:15 Keep in mind that you will be comparing this with the other two types which then includes you allergic and your viral conjunctivitis.

    06:23 Most commonly with staph aureus.

    06:26 So now we?ve see staphs aureus twice in our eye pathology discussion.

    06:31 From the stye, infection of the eyelid, what?s the most common organism there? There you have it, staph aureus.

    06:38 Here as well, Streptoccocus pneumonia and Haemophilus influenza, and you heard of pink eye, referring to aegyptius.


    About the Lecture

    The lecture Congenital Abnormalities by Carlo Raj, MD is from the course Optic Pathology. It contains the following chapters:

    • Congenital Abnormalities
    • Eyelid Disorders
    • Conjunctival Disorders

    Included Quiz Questions

    1. Microphthalmos
    2. Buphthalmos
    3. Anophthalmos
    4. Cryptophthalmos
    5. Hydrophthalmos
    1. Brushfield spots
    2. Bitot spots
    3. Mittendorf dot
    4. Fuch spots
    5. Koeppe nodules
    1. Staphylococcus aureus
    2. Staphylococcus epidermidis
    3. Streptococcus pneumoniae
    4. Neisseria spp.
    5. Chlamydia spp.
    1. Ceftriaxone
    2. Cefuroxime
    3. Cefalexin
    4. Cefepime
    5. Cefixime

    Author of lecture Congenital Abnormalities

     Carlo Raj, MD

    Carlo Raj, MD


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