#Normal retina vs albino retina skin#

Clinicians should always make note of the patient’s binocular visual acuity (with preferred head position), as this will likely be significantly better than monocular acuity and reflects more accurately the patient’s visual function.įigure 1. Visual acuity directly improves with decreased nystagmus. Children may adopt head nodding and anomalous head positions in an effort to find a null point where the nystagmus is diminished. 1 Stress, fatigue, illness and monocular occlusion all worsen nystagmus. 3 The nystagmus often dampens over time and may even disappear later in childhood. It starts as a large-amplitude, low-frequency pendular nystagmus, which parents sometimes interpret as an inability to fixate on objects. The nystagmus typically develops over several weeks after birth. Nystagmus is almost always present, 3 and is often the most bothersome and noticeable feature to the parents of children with OCA. Therefore, albinism should be considered in the differential of any child who presents with chronic nystagmus and a fair complexion. It is important to remember that not all children with OCA will have the snow white hair and translucent irises that may first come to mind there is a range of light blonde to brown hair and eye color can be blue, brown or hazel ( See Figure 1). One or two of these features may be absent, but decreased visual acuity is almost always a feature of this condition. Additional ocular signs include nystagmus iris transillumination defects foveal hyopoplasia anomalous retinal vasculature anomalous optic nerves and an abnormal optic chiasm.

#Normal retina vs albino retina skin#

OCA is most often clinically diagnosed based on the features of ocular hypopigmentation (iris and retina), skin and hair, in conjunction with decreased visual acuity. Individuals who have only skin, hair and iris hypopigmentation, but have normal vision and no other ocular involvement are described as “albinoid.” While the image of white hair and translucent skin may first come to mind when thinking about albinism, the hallmark of the disorder is actually the visual pathway underdevelopment that occurs secondary to abnormal melanin production. 1 In some patients, only the eyes are affected, and this is referred to as ocular albinism. OCA patients have varying degrees of hypopigmentation of the eyes, skin and hair with associated underdevelopment of the retina and visual pathways.

Oculocutaneous albinism describes a heterogenous and phenotypically variable group of genetic disor-ders.