BACKGROUND: @entity13276 ( @entity13276 ) is a type of oculocutaneous @entity4068 associated with a @entity548 diathesis and @entity3794 . Although it is known that @entity1 with @entity13276 exhibit @entity346 , the nature of these @entity2358 has not been studied. METHODS: Twenty-seven @entity1 with @entity13276 , diagnosed by platelet morphology and genetic analysis, underwent a systemic evaluation and complete eye examination. Twenty-five had eye movement recordings using magnetic search coil, infrared, or video oculography. RESULTS: All @entity1 had iris transillumination, @entity2070 , and variable @entity4182 in @entity8492 . All had @entity548 tendencies, and 2 reported excessive @entity548 during strabismus surgery. Nine @entity1 had @entity3794 . Visual acuities ranged from 20/20- to 20/320. Twenty @entity1 had strabismus despite 6 having strabismus surgery previously. @entity2194 consistent with @entity9529 ( @entity9529 ) were clinically evident in 24 of 27 @entity1 , and half showed periodic alternating @entity346 . In 3 @entity1 without @entity9529 , eye movement recordings revealed minimal end-gaze @entity346 , square-wave jerks, drift during fixation and saccades, and low-gain pursuit. These @entity1 had melanin in the posterior pole and better visual acuities than the others (P = 0.002). CONCLUSIONS: Most @entity1 with @entity13276 have @entity9529 , and many have periodic alternating @entity346 . Some have subtle eye @entity910 without clinically evident @entity346 , which can obscure the diagnosis, especially if @entity4182 is mild. Absence of clinical @entity346 in a @entity1 with @entity13276 suggests good vision. @entity1 with @entity4068 , especially before surgery, should be evaluated for @entity13276 to prevent life-threatening complications.

Eye @entity910 in XXXX .

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients', 'child'] @entity2194 :: ('MESH:D005128', 'Disease') :: ['Ocular oscillations'] @entity4182 :: ('MESH:D017496', 'Disease') :: ['hypopigmentation'] @entity548 :: ('MESH:D006470', 'Disease') :: ['bleeding'] @entity2358 :: ('MESH:D020820', 'Disease') :: ['abnormal eye movements'] @entity3794 :: ('MESH:D011658', 'Disease') :: ['pulmonary fibrosis'] @entity910 :: ('MESH:D004409', 'Disease') :: ['movement abnormalities'] @entity2070 :: ('MESH:C537858', 'Disease') :: ['foveal hypoplasia'] @entity8492 :: ('MESH:D012868', 'Disease') :: ['skin and eyes'] @entity9529 :: ('MESH:D020417', 'Disease') :: ['congenital nystagmus', 'CN'] @entity13276 :: ('MESH:D022861', 'Disease') :: ['Hermansky-Pudlak Syndrome', 'HPS'] @entity4068 :: ('MESH:D000417', 'Disease') :: ['albinism'] @entity346 :: ('MESH:D009759', 'Disease') :: ['nystagmus']
@entity13276 :: (MESH:D022861,Disease) :: ['hermansky-pudlak syndrome']
