Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

Iwata, Fumino; Reed, George F.; Caruso, Rafael C.; Kuehl, Ernest M.; Gahl, William A.; Kaiser‐Kupfer, Muriel I.

doi:10.1016/s0161-6420(99)00150-5

Cited by 31 publications

(25 citation statements)

References 17 publications

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“…Because of the variable clinical presentation, it remains difficult to predict vision in a child with HPS. 8,44 Our findings indicate, however, that a child who fixes and follows without clinically noticeable nystagmus will likely have a better acuity than with a brisk nystagmus. On the other hand, the diagnosis of albinism in patients without overt ocular oscillations may be difficult, especially if they have good visual acuity, as for our patients 11 and 14, or 2 subjects reported by Summers et al 38,41 Careful evaluation of the eye movements of these patients, preferably using eye movement recordings, can reveal subtle abnormalities consistent with albinism.…”

Section: Eye Movement Characteristicsmentioning

confidence: 63%

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Gradstein

FitzGibbon

Tsilou

et al. 2005

Journal of American Association for Pediatric Ophthalmology and

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Section: Eye Movement Characteristicsmentioning

confidence: 63%

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Gradstein

FitzGibbon

Tsilou

et al. 2005

Journal of American Association for Pediatric Ophthalmology and

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“…A lack of iris transillumination has not been previously reported in HPS although the degree of iris defects can range from mild spoke like defects to complete transillumination 20 21. Abnormal chiasmal misrouting is regarded as a cardinal feature of OCA and the degree of misrouting has been shown to negatively correlate with the loss of pigmentation 13 22.…”

Section: Discussionmentioning

confidence: 99%

The ophthalmic presentation of Hermansky–Pudlak syndrome 6

et al. 2016

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“…Both the nystagmus and visual acuity remain relatively stable throughout life. There appears a loose inverse correlation between the degree of iris transillumination and visual acuity [37].…”

Section: Introductionmentioning

confidence: 95%

“…In the eyes, the albinism of HPS has several manifestations [35][36][37]. A paucity of pigment in the iris causes transillumination, i.e., the appearance of light shining back through the iris when directed into the pupil (Fig.…”

Section: Oculocutaneous Albinism Platelet Storage Pool Deficiencymentioning

confidence: 99%

Disorders of Vesicles of Lysosomal Lineage: The Hermansky- Pudlak Syndromes

Huizing

Gahl²

2002

CMM

108

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Hermansky-Pudlak syndrome (HPS) has evolved into a group of genetically distinct disorders characterized by oculocutaneous albinism, a storage pool deficiency, and impaired formation or trafficking of intracellular vesicles. HPS-1 results from mutations in the HPS1 gene and affects approximately 400 individuals in northwest Puerto Rico due to a 16-bp duplication in exon 15. Another 13 mutations have been reported in non-Puerto Ricans. HPS1 codes for a 79.3 kDa cytoplasmic protein of unknown function. HPS-1 patients typically develop fatal pulmonary fibrosis in their fourth decade. HPS-2 is caused by mutations in ADTB3A, which codes for the beta3A subunit of the adaptor protein-3 complex, AP3. This coat protein complex has been localized to the TGN as well as to a peripheral endosomal compartment. Evidence indicates that AP3 plays a role in the stepwise process of vesicular trafficking which leads to formation of the melanosomal, platelet dense body and lysosomal compartments. All three known HPS-2 patients had childhood neutropenia and infections. HPS-3 results from mutations in HPS3 and affects central Puerto Ricans homozygous for a 3904-bp deletion removing exon 1. At least 8 non-Puerto Rican patients have other HPS3 mutations, including an IVS5+1G->A splicing mutation in five Ashkenazi Jewish patients. HPS3 codes for a 113.7 kDa protein of unknown function. HPS-3 manifests with mild hypopigmentation and bleeding. All types of HPS are diagnosed by whole mount electron microscopic demonstration of absent platelet dense bodies, and molecular diagnoses are available for the Puerto Rican HPS1 and HPS3 founder mutations. Mouse and Drosophila models provide candidates for new genes causing HPS in humans. These genes will reveal the pathways by which specialized vesicles of lysosomal lineage arise within cells.

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Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

Cited by 31 publications

References 17 publications

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

The ophthalmic presentation of Hermansky–Pudlak syndrome 6

Disorders of Vesicles of Lysosomal Lineage: The Hermansky- Pudlak Syndromes

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