68 year old with abnormal pupil in the left eye

Posted by - Posted on 10/30/2016 22:50:34 Glaucoma

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68 year old presented with glaucoma and abnormal pupil in the left eye. She was treated with Express and later AGV. IOP is controlled on 3 drops OU. BCV is 20/20 OD and 20/100 OS

1. What is the reason for the shape of this abnormal iris abnormailty?

2. This condition may be associated with hearing loss -Explain

3. Guess what her HVF would like in OS compared to OD ?

Leave a Comment:

Joshua Frenkel 11/07/2016 01:49:41

Iris coloboma, which has a keyhole shape due to failure for the embryonic fissure to close in the 5th week of gestation. Ant segment colobomas may be associated with hearing loss in CHARGE syndrome. The HVF OS may have a superior VF defect due to inferior retinal, optic nerve, or other posterior colobomas. OD expected to be normal barring other defects.

Alex Yelenskiy 11/07/2016 01:44:46

I agree, typical iris coloboma in inferonasal quadrant resulting from failure of closure/incomplete closure of embryonic fissure. CHARGE syndrome, which includes hearing loss, can be associated with ocular coloboma. If this typical coloboma involves chorioretinal lesions, there could be superior visual field defects.

Ze Zhang 11/06/2016 21:53:19

Iris coloboma, due to defect in embryologic development. CHARGE syndrome associated with anterior segment colobomas, and can include hearing loss. Right eye may have normal HVF, while left eye may have defects related to any posterior segment abnormailtles. If there were an inferior coloboma of the retina or optic nerve, would have superior defects.

Nishika Muddasani 11/04/2016 22:02:51

This patient has a typical iris coloboma because it is in the inferno-nasal quadrant. This defect is cause by failure of the choroidal issue to close between the 5th and 7th week of gestation. CHARGE syndrome is a mutation in the CHD7 gene which can also cause ear abnormalities along with many other systemic findings including nasal atresia and heart defects. Coloboma can also be present in Trisomy 18 which can be associated with sensorineural hearing loss as well. If the coloboma was continuous and had retina involvement its likely that the HVF would have a superior defect OS.

Audra Zimmer 11/03/2016 22:42:31

I agree that she has an iris coloboma, and also that iris coloboma can also have retina, choroid, optic nerve involvement. Another syndrome that could be associated with an iris coloboma and hearing loss is renal-coloboma syndrome. In this syndrome, affected patients generally have hypoplastic kidneys (which can lead to ESRD) and an iris coloboma. They may also have kidney cysts, loose joints, and mild hearing loss. The visual field would depend on where/if there were other colobomas (which there likely are given the difference in vision) in the eye are.

Lena Al-Dujaili 11/03/2016 02:17:47

Patient has an iris colobomaCHARGE syndrome can be a case of iris coloboma- it can also cause hearing loseSince iris coloboma may have retina involvement (due to failure of embryonic fissure from closing), in the inferior retina, I would expect a superior defect