(1) The nucleotide sequences presented thus enable us to discriminate the tyrosinase gene from its related sequences and are invaluable for a gene diagnosis of oculocutaneous albinism.
(2) The presence of a ring-like figure in the centre of the fundus oculi may be regarded as an additional clinical sign of albinism of the fundus oculi.
(3) Resuscitation was significantly more often successful with the Bunegin-Albin catheter (six of nine dogs) than with either Sorenson catheter (zero of seven in both groups) or the Swan-Ganz RA port (one of seven).
(4) Based upon the finding of giant pigment granules in clinically normal skin of the patient's mother, the patient was diagnosed as a case of dyschromatosis universalis with X-linked ocular albinism.
(5) These findings suggest that there is a partial block in the distal eumelanin pathway in this form of albinism.
(6) Minimal pigment, a new type of oculocutaneous albinism (OCA), is described.
(7) Two female patients with familial diffuse fibrosing alveolitis associated with oculocutaneous albinism are presented.
(8) Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin.
(9) Amplitudes were reduced compared with those obtained with the sclera unoccluded, suggesting that responses to transscleral illumination contributed to the ERG in this type of albinism.
(10) On account of a recently developed tinnitus, a young woman with the characteristic features of Klein-Waardenburg's syndrome (impairment of hearing, partial albinism, telecanthus) was hospitalised.
(11) The introducer sheath was compared to a Sorenson CVP catheter, a Bunegin-Albin Air Aspiration CVP Catheter, and the proximal port of a pulmonary artery catheter.
(12) An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus.
(13) A family was studied in which four siblings had oculocutaneous albinism.
(14) The broader category of mild to moderate hypopigmentation without all of the features of albinism may ultimately prove to be as important in understanding melanin metabolism.
(15) The absence of the foveolar pit and the decrease of visual acuity in tyrosinase-positive albinism is caused by definite morphologic alteration in the arrangement of ganglion cells in the macular region in the sense of a foveolar aplasia.
(16) Ocular albinism is distinguished from the more common oculocutaneous albinism by the presence of normal pigmentation of skin and hair in the former condition.
(17) The iris shows the lack of pigmentation in various types of albinism.
(18) It has recently been suggested that aberrant misrouting of retino-geniculate-cortical (RGC) projections, a finding previously noted only in albinism, may be an additional feature of the Prader-Willi syndrome.
(19) Histopathologic and ultrastructural findings in an eye from a patient with complete oculocutaneous albinism are reported.
(20) This is believed to be the first case of albinism reported in sheep.