Albinism: particular attention to the ocular motor system

RW Hertle - Middle East African journal of ophthalmology, 2013 - journals.lww.com
The purpose of this report is to summarize an understanding of the ocular motor system in
patients with albinism. Other than the association of vertical eccentric gaze null positions …

[PDF][PDF] HermanskyPudlak syndrome

C Gaik, T Wiesmann - Anästh Intensivmed, 2023 - ai-online.info
Die Handlungsempfehlungen von OrphanAnesthesia sind standardisiert und durch laufen
nach ihrer Erstellung einen PeerReviewProzess, an dem eine Anästhesistin bzw. ein …

[HTML][HTML] A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

S Ghafouri-Fard, F Hashemi-Gorji… - … Journal of Molecular …, 2016 - ncbi.nlm.nih.gov
&: The first two authors contributed equally.∗ Corresponding author: Genomic Research
Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Email: miryounesi …

The Skin and the Eyes

AK Tiwary, P Kumar, S Roychoudhury, A Das… - Atlas of Dermatology …, 2021 - Springer
Eyes and skin, both are the well-known and potential sites of reflection of systemic/internal
disease processes such as collagen vascular diseases, metabolic disorders …

Ocular Findings in Persons With Albinism in Bujumbura, Burundi

JJ Nkuyubwatsi - 2022 - erepository.uonbi.ac.ke
Background: Persons with albinism have varied ocular problems which can cause visual
impairment or blindness. Moreover, there is a paucity of data on ocular findings in persons …

[PDF][PDF] Ocular and Oculocutaneous Albinism in Iran

SFMMDMPH FICO - apo.tums.ac.ir
Albinism is a congenital genetic disorder and can occur due to mutation in at least 20
different genes. ¹ ese mutations cause defective production of melanin from tyrosine in …

A Case Report of Hermansky-Pudlak Syndrome

KH Khashei Varnamkhasti, M Alipour - Armaghane Danesh, 2021 - armaghanj.yums.ac.ir
Background & aim: Hermansky-Podlock Syndrome (HPS) is a rare autosomal recessive
disease caused by major defects in protein trafficking. HPS is characterized by ocular …

[HTML][HTML] Ocular and Oculocutaneous Albinism in Iran

N Hassan-pour, E Ashrafi, F Mohammadi… - Archives of Persian …, 2020 - apo.tums.ac.ir
Our local evidence on ocular and oculocutaneous albinism in Iran is limited. This highlights
the need for further epidemiological (in different parts of Iran and by ethnicities) as well as …

Congenital Absence of Pigmentation in Skin and Hair with Diminished Vision

G Jha - Clinical Cases in Disorders of Melanocytes, 2020 - Springer
Oculocutaneous albinism is the most common inherited disorder of generalized
hypopigmentation due to genetic defects in melanin biosynthesis. Depending upon the …