Which ocular findings are characteristic of Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Ocular findings in Hermansky-Pudlak syndrome include poor visual acuity, refractive errors associated with with-the-rule astigmatism, strabismus, congenital nystagmus, prominent Schwalbe line, iris transillumination, foveal hypoplasia, and albinotic retinal mid periphery, as shown in the image below. [33]

Photo showing light brown eyes and a red reflectio Photo showing light brown eyes and a red reflection in the eyes.

Best-corrected visual acuity in patients with Hermansky-Pudlak syndrome ranges from 20/60 to 20/400 in the Snellen chart. Refractive errors range from high myopia to hyperopia.

Patients with Hermansky-Pudlak syndrome have congenital nystagmus. The most common types of strabismus found in patients with this syndrome are esotropia and exotropia. Vertical deviations have been reported.

Patients with Hermansky-Pudlak syndrome have various anterior segment abnormalities that include the following: a prominent Schwalbe line, iris transillumination, and presenile cataracts. Iris transillumination varies from almost total transillumination (pigment found at the collarette) to minimal peripheral transillumination.

Patients with Hermansky-Pudlak syndrome have foveal hypoplasia. Vascular architecture varies. Macular transparency (grading visibility of choroidal vessels) ranges from transparent to opaque. These patients have albinotic mid periphery.

Patients with Hermansky-Pudlak syndrome can have poor binocular vision and have no color-vision defects on Ishihara testing. Patients with Hermansky-Pudlak syndrome have pale optic nerves, and visual-evoked potentials show excessive decussation of the optic nerve fibers. Additionally, iris heterochromia with Hermansky-Pudlak syndrome has been reported. [34]


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