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

Zhou, Min; Gradstein, Libe; Gonzales, John A.; Tsilou, Ekaterini; Gahl, William A.; Chan, Chi Chao

doi:10.1001/archopht.124.7.1048

Cited by 9 publications

(3 citation statements)

References 9 publications

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“…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…”

supporting

confidence: 84%

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

Cronin

Hertle

Ishikawa

et al. 2009

Journal of American Association for Pediatric Ophthalmology and

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Purpose-To evaluate the feasibility of spectral domain optical coherence tomography (SD-OCT) macular scanning as a means of studying the afferent visual system in nystagmus patients.Methods-Nystagmus patients who underwent SD-OCT, clinical evaluation, and eye movement recordings were recruited for this prospective, single-center, noncomparative study. Three SD-OCT macular three-dimensional cube scans per eye (200 × 200 × 1024 samplings in a 6 × 6 mm region) were obtained for qualitative retinal morphology analysis.Results-Nineteen patients (6-68 years; average, 19 years) were analyzed. Of these, 17 patients had infantile nystagmus syndrome, and 2 had fusion maldevelopment nystagmus; 17 patients (89%) had associated sensory system abnormalities, including 9 (47%) with albinism. Macular images were successfully obtained in all but 1 patient (95%). Of the 8 successfully imaged oculocutaneous patients, 7 patients demonstrated "fovea plana," and all demonstrated abnormal morphology.

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supporting

confidence: 84%

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

Cronin

Hertle

Ishikawa

et al. 2009

Journal of American Association for Pediatric Ophthalmology and

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“…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.…”

Section: Ophthalmologymentioning

confidence: 99%

Hermansky–Pudlak Syndrome

Rojas

Young

2020

Semin Respir Crit Care Med

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Hermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Recessive mutations or disruptions in HPS genes alter the function of HPS proteins which are components of biogenesis of lysosome-related organelle complexes and are critical for intracellular protein trafficking. Diagnosis and management of HPS-related comorbidities represent a challenge to physicians, and a multidisciplinary clinical approach is necessary for early detection, health management, and surveillance of PF in patients with HPS types 1, 2, and 4. Treatment options for individuals with HPS-PF include pirfenidone and lung transplantation. In this article, we describe the epidemiology, genetics, clinical manifestations, and management of HPS.

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“…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.…”

Section: Commentmentioning

confidence: 99%

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

Chong¹

2009

Arch Ophthalmol

123

101

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To evaluate the spectrum of foveal architecture in pediatric albinism and to assess the utility of spectral-domain optical coherence tomography (OCT) in ocular imaging of children with nystagmus. Methods: Spectral-domain OCT imaging was performed on study subjects in 3 groups: subjects with ocular albinism (OA) or suspected OA with foveal hypoplasia, with nystagmus, and with or without iris transillumination; a subject with oculocutaneous albinism and Hermansky-Pudlak syndrome; and control subjects. Dense volumetric scans of each fovea were captured using standard and handheld spectral-domain OCT devices. Images were postprocessed and scored for the presence and configuration of each retinal layer across the fovea. Results: High-quality spectral-domain OCT images obtained from each subject revealed a range of abnormalities in subjects with OA or suspected OA and the subject with oculocutaneous albinism and Hermansky-Pudlak syndrome: persistence of an abnormal, highly reflective band across the fovea, multiple inner retinal layers normally absent at the center of the fovea, and loss of the normally thickened photoreceptor nuclear layer at the fovea when compared with that in control subjects. The optic nerve was elevated in multiple eyes of subjects with OA or suspected OA and the subject with oculocutaneous albinism and Hermansky-Pudlak syndrome. Conclusions: A spectrum of foveal morphological abnormalities is seen in subjects with OA or suspected OA, which in some cases contrasted with previous studies using time-domain OCT. These OCT findings clarify the morphology of foveal hypoplasia seen clinically. This imaging modality may be useful in evaluating children.

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

Cited by 9 publications

References 9 publications

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

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

Hermansky–Pudlak Syndrome

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

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