Hermansky-Pudlak syndrome: albinism with lipofuscin storage

Fagadau, Warren R.; Heinemann, Murk Hein; Cotlier, Edward

doi:10.1007/bf00139585

Cited by 13 publications

(5 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Due to the small number of cones in the rodent retina, very little data are available on cone function in pigmented animals, and even less in albino animals. However, in human ocular albinism, Fagadau et al (1981) reported reduced cone responses as well as abnormal flicker fusion responses, supporting our findings in the albino mouse retina.…”

Section: Cone Erg Analysis In Pigmented and Albino Animals During Matsupporting

confidence: 89%

“…Thus, in human subjects, rods are susceptible to age-related degeneration, whereas cones are more stable. Patients with albinism appear to have fewer cones resulting in reduced photopic visual acuity (Summers, 1996), and patients with ocular albinism have been reported to exhibit defects in both rod and cone pathways (Fagadau et al, 1981;Carlson et al, 1991).…”

Section: The Aging Mouse Retina As a Model System For Normal Human Agingmentioning

confidence: 99%

See 1 more Smart Citation

Structure–function analysis of rods and cones in juvenile, adult, and aged C57BL/6 and Balb/c mice

et al. 2003

View full text Add to dashboard Cite

To determine whether the photoreceptors change structurally and functionally during aging, and to analyze whether pigmentation in the retinal pigment epithelium might be a contributing factor. Young, adult, and aged C57BL/6 and Balb/c mice (1, 4, and 17 months of age) were housed under a 12-h light/12-h dark cycle, with an ambient light intensity at the eye level of the mice of 85 +/- 18 lux. Scotopic single-flash and photopic-flicker electroretinograms (ERGs) after complete dark adaptation were used to assess rod and cone function, respectively. Numbers of rod photoreceptors were counted in plastic sections, and rhodopsin levels were measured using absorption difference spectrophotometry. Numbers and types of cones were determined using lectin staining in retinal flatmounts and cone-specific antibodies in radial frozen sections. Young pigmented C57BL/6 and nonpigmented Balb/c mice had similar numbers of rods. In both mouse strains, there was an overall decline in rod photoreceptor number during aging, which was more pronounced in albino mice. Rod cell numbers correlated with a drop in the overall amount of rhodopsin and a reduction in the maximum a-wave of the rod ERG. The number of short-wavelength cones was unaffected by age and pigmentation, whereas an age-related decline was observed in mid-wavelength (MWL) cones in albino, but not in pigmented mice. In contrast, MWL cone function was reduced during aging in both strains. Flicker-fusion frequency was determined to be approximately 10 Hz lower in albino animals, which is due to prolonged b-waves in these ERGs. Age-related changes were found in both photoreceptor systems, rods and cones, and in both pigmented and nonpigmented mice. However, rod photoreceptors appear to be more susceptible to both aging and the lack of pigmentation, when compared to cones. These results may help as we begin to understand certain age-related retinal diseases.

show abstract

Section: Cone Erg Analysis In Pigmented and Albino Animals During Matsupporting

confidence: 89%

Section: The Aging Mouse Retina As a Model System For Normal Human Agingmentioning

confidence: 99%

Structure–function analysis of rods and cones in juvenile, adult, and aged C57BL/6 and Balb/c mice

et al. 2003

View full text Add to dashboard Cite

show abstract

“…26,36,[40][41][42][43] All patients with HPS reported in the ophthalmic literature have had nystagmus. [7][8][9][10][11][12] In contrast, 3 of our patients (11%) did not have clinically noticeable oscillations. These patients had a better visual acuity range, as well as more iris and retinal pigmentation than the rest.…”

Section: Eye Movement Characteristicsmentioning

confidence: 81%

“…Patient 26 was not assessed because of the young age and patient 27 because of severe pulmonary fibrosis requiring constant treatment with oxygen. The eye movements of 10 individuals (patients 1, [8][9][10][11][12][13]15,17,18) were recorded using a magnetic search coil technique (Table 1). 14 rear-projected onto a tangent screen at 1 m. With the ISCAN and Ober 2 systems, patients viewed a crossshaped target subtending 1 degree in horizontal and vertical meridian, which was projected onto a 40-inch plasma monitor 1 m from the patient.…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Gradstein

FitzGibbon

Tsilou

et al. 2005

Journal of American Association for Pediatric Ophthalmology and

View full text Add to dashboard Cite

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

Maynard,

Gochuico,

Pri Chen

et al. 2024

FEBS Letters

View full text Add to dashboard Cite

Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder caused by defects in the biogenesis of lysosome‐related organelles complex‐3 (BLOC‐3). Impaired kidney function is among its clinical manifestations. To investigate HPS‐1 renal involvement, we employed 1D‐gel‐LC–MS/MS and compared the protein composition of urinary extracellular vesicles (uEVs) from HPS‐1 patients to normal control individuals. We identified 1029 proteins, 149 of which were altered in HPS‐1 uEVs. Ingenuity Pathway Analysis revealed disruptions in mitochondrial function and the LXR/RXR pathway that regulates lipid metabolism, which is supported by our novel Hps1 knockout mouse. Serum concentration of the LXR/RXR pathway protein ApoA1 in our patient cohort was positively correlated with kidney function (with the estimated glomerular filtration rate or eGFR). uEVs can be used to study epithelial cell protein trafficking in HPS‐1 and may provide outcome measures for HPS‐1 therapeutic interventions.

show abstract

Hermansky-Pudlak syndrome: albinism with lipofuscin storage

Cited by 13 publications

References 34 publications

Structure–function analysis of rods and cones in juvenile, adult, and aged C57BL/6 and Balb/c mice

Structure–function analysis of rods and cones in juvenile, adult, and aged C57BL/6 and Balb/c mice

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

Contact Info

Product

Resources

About