INHERITANCE PATTERN
OCA – AR
OA – XLR
VISUAL ACUITY
Visual acuity can range from normal to legal blindness or worse.
Near Vision is often better than far vision.
Usually, poor binocularity that is due to abnormalities of the optic pathways.
FACE AND FACIAL SYMMETRY
Blond Hair – OCA
EYELIDS AND ADNEXA
Poliosis
Extraocular motility
Pendular Nystagmus
Strabismus – generally esotropia
IRIS AND PUPIL
Color is usually blue (may vary from Vlue to brown)
Iris Transillumination defects -
POSTERIOR SEGMENT
Macular Hypoplasia – absence of yellow macula lutea pigment, absent foveal reflex, absence of normal hyperpigmentation of foveal RPE, failure of retinal vasculature to wreathe the fovea.
Hypopigmented Retina – OCA
The female carriers of XL albinism may have macular pigmentary mottling as well as abnormal pigmentation of the peripheral retina.
Retinoscopy
Both myopia and hyperopia can occur.
FELLOW EYE
Bilateral condition
SYSTEMIC CONDITIONS
Chediak Higashi Syndrome – easy susceptibility to infection in a young child
Hermansky Pudlak Syndrome – easy susceptibility to bruising and bleeding.
Decreased Hearing in some forms of OCA
ANCILLARY TESTING
OCT – loss of foveal pit and loss of normal thinking of fovea.
FA – small or non-existent FAZ
MRI - Abnormal decussation of visual pathways – crossing of up to 90% fibers to the other side.
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