The Warburg Micro Syndrome Series 2016 – Eyes

WMS- Eyes


Warburg Micro Syndrome children have eye abnormalities that may include microphthalmia, microcornea, microphakia, cataract, pinpoint atonic pupils, ptosis, nystagmus, mild optic atrophy, blepharophimosis, and severe cortical vision impairment. [Ainsworth et al., 2001,  Carpanini, 2014, Derbent et al., 2004, Graham et al., 2004] In addition, recent studies in mice suggest that the optic atrophy is progressive. [Cheng et al., 2015]

Breaking this down to understandable terms, this means that babies born with WMS may have smaller than normal eyes (microphthalmia), lenses (microphakia), corneas (microcornea) and pupils. The pupils may not react well to light and may not dilate well with dilating agents. Their eyelids may be droopy (ptosis) with narrow openings (blepharophimosis) and they may have cataracts at birth or shortly after. Some babies have nystagmus, which is eye movement that is involuntary. Optic atrophy is common also. This is noted on an eye exam as small and pale optic disks. Progressive optic nerve atrophy means that the  visual impairment gets worse over time. Cortical vision impairment is defined as visual impairment that originates in the brain as opposed to the eyes.

Many WMS children have at least four or five of the above mentioned eye abnormalities, so as you can see, developing good vision can be very difficult.

MaryEllen and Kevin had cataracts, microphthalmia,  microcornea and optic atrophy at birth. In addition, Kevin had pinpoint pupils that were not centrally located in his eyes. Both children’s eyes were difficult to dilate with dilating agents and both had minimal pupillary reaction to light. Both children also had mild blepharophimosis.

MaryEllen’s cataracts were not discovered until she was one month old. She had cataract removal surgery at two and three months of age. It is important to have cataract removal surgery as soon as possible after diagnosis so that every opportunity is given for good vision development. (Babies born with cataracts only can have good vision with early surgical intervention.)

Kevin’s cataracts were discovered soon after birth and he had cataract removal surgery at one and two months of age.


MaryEllen's eyes through the years.
MaryEllen’s eyes through the years.


Kevin's eyes through the years.
Kevin’s eyes through the years.

Both children were fitted for contact lenses and glasses after surgery. It was difficult to notice whether they had purposeful vision as they did not have visual attentiveness all the time. Sometimes, I thought they were tracking and seeing, and sometimes not. When they saw their ophthalmologist, they did stop sucking their pacifiers when light was presented in a darkened room. Their visual attentiveness at that time was unquestionable.

As time went on though, it became obvious that there was no real difference in visual attentiveness with or without contact lenses and glasses. We stopped their use after 3 years.

As they got older, (about 9 and 10 years of age) I questioned whether their vision was improving as it seemed as if their eyes focused on the faces of people speaking to them and they turned towards them. We saw a low vision specialist and he agreed that there may have been visual attentiveness.

We revisited the ophthalmologist and he did not agree. He felt that both children were locating and focusing on sound as many blind people do. Even with the ophthalmological exam, there really was no difference in visual attentiveness with and without visual correction.

MaryEllen and Kevin do have good light perception and they do focus on faces when spoken to. Is it reliable? Not really. Is it something that they use in a functional way? I can’t say they do. They do close their eyes when outside so I know that sunlight is bothersome. They do turn towards people that are speaking to them when they are close up and they do get quiet when something bright is presented right in front of them. I just think that they rely on other things for information though. Their hearing is keen.

We did try for all of their 21 years of schooling to present and offer visual stimuli continuously. They had vision therapy for all of those years, so it isn’t from lack of trying that their vision didn’t develop.

All WMS children are not the same. There are many that have more vision than MaryEllen and Kevin.

My advice? Keep offering and doing everything it takes to provide good visual stimuli. It can’t hurt.

For more information about Warburg Micro Syndrome as it relates to MaryEllen and Kevin, please see The Warburg Micro Syndrome Series 2016.


Ainsworth, J. R., Morton, J. E., Good, P., Woods, C. G., George, N. D., Shield, J. P., … & Chhina, J. (2001). Micro syndrome in Muslim Pakistan children. Ophthalmology, 108(3), 491-497.
Carpanini, S. M. (2014). Characterisation of a novel Rab18 mouse model for Warburg Micro syndrome.
Cheng, C. Y., Wu, J. C., Tsai, J. W., Nian, F. S., Wu, P. C., Kao, L. S., … & Hong, C. J. (2015). ENU mutagenesis identifies mice modeling Warburg Micro Syndrome with sensory axon degeneration caused by a deletion in Rab18. Experimental neurology, 267, 143-151.
Derbent, M., Agras, P. I., Gedik, Ş., Oto, S., Alehan, F., & Saatçi, Ü. (2004). Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. American Journal of Medical Genetics Part A, 128(3), 232-234.
Graham, J. M., Hennekam, R., Dobyns, W. B., Roeder, E., & Busch, D. (2004). MICRO syndrome: an entity distinct from COFS syndrome. American Journal of Medical Genetics Part A, 128(3), 235-245.


If you have any questions about anything related to the eyes and vision development in Warburg Micro Syndrome, please leave a comment, and I will be happy to answer.



Leave a Reply