Hermansky-Pudlak Syndrome; a Case Report

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Abstract

Purpose

To report a case of Hermansky-Pudlak syndrome.

Case Report

A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and foveal hypoplasia. Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. The patient underwent strabismus surgery taking necessary precautions such as reserving platelet concentrates in case of a hemorrhagic event.

Conclusion

Patients with albinism should be evaluated for Hermansky-Pudlak syndrome especially before surgery to prevent life-threatening complications.

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Most cited references 21

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Albinism: its implications for refractive development.

C F Wildsoet, P J Oswald, S Clark (2000)

Albinism involves the mutation of one or more of the genes associated with melanin synthesis and has many ramifications for vision. This study focuses on the refractive implications of albinism in the context of emmetropization. Refractive, biometric, and visual acuity data were collected for a group of 25 albino individuals that included the following: 18 oculocutaneous (13 tyrosine positive, 5 tyrosine negative); 7 ocular (2 autosomal recessive, 5 sex-linked recessive). Their age range was 3 to 51 years. All exhibited horizontal pendular nystagmus. There were no statistically significant differences relating to albino subtype for any of the measured parameters. All the subjects had reduced visual acuity (mean: 0.90, logMAR) and overall, there was a bias toward hyperopia in their refractive errors (mean: + 1.07 D). However the refractive errors of the group covered a broad range (SD: 4.67 D) and included both high myopia and high hyperopia. An axial origin to the refractive errors is implied by the high correlation between refractive errors and axial lengths. Refractive astigmatism averaged 2.37 D and was consistently with-the-rule and highly correlated with corneal astigmatism, which was also with-the-rule. Meridional analysis of the refractive data indicated that the vertical meridian for hyperopic subjects was consistently nearer emmetropia compared to their horizontal meridian. Myopic subjects showed the opposite trend. The overall refractive profile of the subjects is consistent with emmetropization being impaired in albinism. However, the refractive errors of hyperopic subjects also can be explained in terms of "meridional emmetropization." The contrasting refractive profiles of myopic subjects may reflect operational constraints of the emmetropization process.

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Hermansky-Pudlak syndrome with granulomatous colitis.

B Cobert, Guillermo Schinella, C. R. Cox … (1979)

The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the second phase of platelet aggregation, and widespread accumulation of a ceroidlike pigment in tissue. Pulmonary fibrosis has also been reported. In this paper, we describe two families with documented Hermansky-Pudlak syndrome in which four members, two from each family, developed granulomatous colitis. This adds another disease entity to those associated with this syndrome. We discuss possible connecting links between these disease expressions.

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Disease-associated visual image degradation and spherical refractive errors in children.

S Crewther, P Kiely, D Crewther … (1985)

Retrospective clinical data from 496 eyes of 256 children attending a low vision clinic were analyzed to determine the relation between disease states which involve visual image degradation and refractive error. Refractive data from 1023 normal vision children were used as a control. The low vision children were grouped according to their disease classification and the acknowledged age-of-onset of their visual disability. It was found that there was an overall inability to emmetropize and a trend towards myopia. It was also observed that the diseases which led to myopia were associated with a peripheral or peripheral plus central impairment of vision and that those conditions in which foveal vision was primarily impaired showed a mild hypermetropic trend. Eyes in which the visual impairment was not congenital but occurred before the age of 3 years tended to develop hypermetropia. The deviation from emmetropia decreased with increasing age-of-onset of the visual impairment, as did the variation about the mean refraction. The plastic period for emmetropization is estimated to end at 8 to 9 years of age.

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Author and article information

Journal

Journal ID (nlm-ta): J Ophthalmic Vis Res

Journal ID (iso-abbrev): J Ophthalmic Vis Res

Journal ID (publisher-id): JOVR

Title: Journal of Ophthalmic & Vision Research

Publisher: Ophthalmic Research Center

ISSN (Print): 2008-2010

ISSN (Electronic): 2008-322X

Publication date (Print): October 2010

Volume: 5

Issue: 4

Pages: 269-272

Affiliations

Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Author notes

Correspondence to: Abbas Bagheri, MD. Associate Professor of Ophthalmology, Ophthalmic Research Center, #23 Paidarfard St., Boostan 9 St., Pasdaran, Tehran 16666, Iran; Tel: +98 21 2258 5952, Fax: +98 21 2259 0607; e-mail: abbasbagheri@ 123456yahoo.com

Article

Publisher ID: jovr-5-4-240-918-2-pb

PMC ID: 3381088

PubMed ID: 22737372

SO-VID: 0b8bda36-58b4-4242-8e3a-d62ac3ebba6f

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Hermansky-Pudlak Syndrome; a Case Report

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Abstract

Purpose

Case Report

Conclusion

Related collections

Karger: Ophthalmology

Most cited references 21

Albinism: its implications for refractive development.

Hermansky-Pudlak syndrome with granulomatous colitis.

Disease-associated visual image degradation and spherical refractive errors in children.

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