Juan Ding, OD, PhD

Our central vision is seen by a structure called macula in the retina, and the center of the macula is called a fovea. Normally there is a pit dipping down at fovea as shown in Figure 1 below, and this is important for normal central vision.

Figure 1. Normal foveal pit indicated by the arrow.

Yesterday I saw a kid that had abnormal, or under-developed fovea.

This 6 year old boy came with his foster mother. He had fair skin, blond hair and was very light-sensitive. Mom never noticed anything abnormal, but he failed the vision test at his pediatrician’s office and that’s why they came here. 

His vision was 20/50 and 20/40, normal eye alignment, minimum refractive error, but after cycloplegia about +4.00 of hyperopia. At any rate, this hyperopia should not cause reduced vision at his age. So what can it be?

Interestingly when I looked at his retina I could not see a foveal reflex. And the retina was really light in terms of pigment. I attempted OCT and with some luck, managed to get photos from this well-behaved 6 year-old. It is apparent that his macula is lacking a normal foveal pit (Figure 2, right and left eye, respectively). 

Figure 2. Lack of a foveal pit in right and left retinas in our patient.

I gave this a tentative diagnosis of ‘fovea hypoplasia’. This condition can be seen in ocular albinism (lack of melanin) or aniridia (lack of iris), or it can happen as an isolated condition. He has normal eye structures everywhere else. Combined with a blonde fundus and extremely fair skin, I do suspect albinism. But he has no nystagmus, and vision is very good if he does have albinism. Since he was adopted, we do not know much about his family history. Mom adopted him while he was 18 months, and noted good health and normal developmental milestones up to now.

Given moderate to high hyperopia, I gave him a prescription of reading glasses. I referred him to his pediatrician to consider genetic testing.