Ocular Pathologic Features of Hermansky-Pudlak Syndrome Type 1 in an Adult

Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus

“…Chong and colleagues6 hypothesized that the most external retinal layers—specifically the external limiting membrane, photoreceptor inner segment layer, and photoreceptor outer segment layer—appeared normal. These foveal morphologic findings echo the description by Marmor and colleagues,7 of an absent foveal pit, or fovea plana , and agree with histopathological studies8-11 and less-detailed TD-OCT reported findings of either absent or rudimentary foveal pits in oculocutaneous albinism 12-17…”

Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus

“…Chong and colleagues6 hypothesized that the most external retinal layers—specifically the external limiting membrane, photoreceptor inner segment layer, and photoreceptor outer segment layer—appeared normal. These foveal morphologic findings echo the description by Marmor and colleagues,7 of an absent foveal pit, or fovea plana , and agree with histopathological studies8-11 and less-detailed TD-OCT reported findings of either absent or rudimentary foveal pits in oculocutaneous albinism 12-17…”

Hermansky–Pudlak Syndrome

“…Ocular findings include congenital horizontal nystagmus, photophobia, decreased visual acuity from 20/25 to 20/320, and iris translucency. 70 In addition to the lack of retinal and iris pigmentation, 71 foveal hypoplasia was universal in patients with HPS. 72 In a study conducted among 55 HPS patients from Puerto Rican heritage, additional findings included strabismus, posterior embryotoxon, and Axenfeld anomaly.…”

Abnormal Foveal Morphology in Ocular Albinism Imaged With Spectral-Domain Optical Coherence Tomography

“…Foveal hypoplasia was noted to be a characteristic in OCA in several histopathological studies in the early 20th century. [28][29][30][31][32] Zhou et al 33 describe the ocular findings in a patient with type 1 HPS. Hermansky-Pudlak syndrome has a triad of findings including OCA, platelet dysfunction, and ceroid lipofuscin accumulation.…”

Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus

“…Chong and colleagues6 hypothesized that the most external retinal layers—specifically the external limiting membrane, photoreceptor inner segment layer, and photoreceptor outer segment layer—appeared normal. These foveal morphologic findings echo the description by Marmor and colleagues,7 of an absent foveal pit, or fovea plana , and agree with histopathological studies8-11 and less-detailed TD-OCT reported findings of either absent or rudimentary foveal pits in oculocutaneous albinism 12-17…”

Hermansky–Pudlak Syndrome

“…Ocular findings include congenital horizontal nystagmus, photophobia, decreased visual acuity from 20/25 to 20/320, and iris translucency. 70 In addition to the lack of retinal and iris pigmentation, 71 foveal hypoplasia was universal in patients with HPS. 72 In a study conducted among 55 HPS patients from Puerto Rican heritage, additional findings included strabismus, posterior embryotoxon, and Axenfeld anomaly.…”

Abnormal Foveal Morphology in Ocular Albinism Imaged With Spectral-Domain Optical Coherence Tomography

“…Foveal hypoplasia was noted to be a characteristic in OCA in several histopathological studies in the early 20th century. [28][29][30][31][32] Zhou et al 33 describe the ocular findings in a patient with type 1 HPS. Hermansky-Pudlak syndrome has a triad of findings including OCA, platelet dysfunction, and ceroid lipofuscin accumulation.…”

Spectral domain optical coherence tomography for detection of foveal morphology in patients with nystagmus

“…Chong and colleagues6 hypothesized that the most external retinal layers—specifically the external limiting membrane, photoreceptor inner segment layer, and photoreceptor outer segment layer—appeared normal. These foveal morphologic findings echo the description by Marmor and colleagues,7 of an absent foveal pit, or fovea plana , and agree with histopathological studies8-11 and less-detailed TD-OCT reported findings of either absent or rudimentary foveal pits in oculocutaneous albinism 12-17…”

Hermansky–Pudlak Syndrome

“…Ocular findings include congenital horizontal nystagmus, photophobia, decreased visual acuity from 20/25 to 20/320, and iris translucency. 70 In addition to the lack of retinal and iris pigmentation, 71 foveal hypoplasia was universal in patients with HPS. 72 In a study conducted among 55 HPS patients from Puerto Rican heritage, additional findings included strabismus, posterior embryotoxon, and Axenfeld anomaly.…”

Abnormal Foveal Morphology in Ocular Albinism Imaged With Spectral-Domain Optical Coherence Tomography

“…Foveal hypoplasia was noted to be a characteristic in OCA in several histopathological studies in the early 20th century. [28][29][30][31][32] Zhou et al 33 describe the ocular findings in a patient with type 1 HPS. Hermansky-Pudlak syndrome has a triad of findings including OCA, platelet dysfunction, and ceroid lipofuscin accumulation.…”