This is an extremely rare form of decreased pigmentation in the hair and skin, known as albinism. It is unique as a result of the serious eye and nervous system features.
This disorder is evident at birth primarily because of the lack of pigmentation and the mental delay. The skin is pale although pigmented freckles can be seen. The hair and lashes are white. They never respond to the usual visual and auditory environmental stimuli except for an exaggerated startle response to noise. The eyes are small and the normally clear cornea (windshield of the eye) is nearly opaque. They do not respond to bright light and likely are blind. It seems to be a non-progressive disorder as the developmental delays remain unchanged. Young children have writhing, purposeless movements of the arms, hands, and arms. The gums in the mouth appear bulky and swollen while the teeth are small with wide spaces between them.
This is presumed to be an autosomal recessive disorder based on consanguinity among some parents and the single generation occurrence of cases. It is suspected that each parent carries a mutant gene, so far unidentified, from whom the children inherit a double dose required for the disease to be expressed.
The rarity of cases and consequent lack of complete information regarding the full clinical picture makes the diagnosis difficult. The combination of albinism features, the teeth abnormalities, and the appearance of the eyes should suggest this disorder. No treatment is available. Little is known about the prognosis; one child died as a teenager.