48 results match your criteria Ocular Manifestations of Albinism

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.

Ophthalmic Genet 2021 Feb 17:1-9. Epub 2021 Feb 17.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

: To describe genetic molecular findings in individuals with congenital nystagmus, foveal hypoplasia, and subnormal vision, with normal ocular pigmentation (absence of diffuse transillumination or transparent retinal pigment typical for albinism).: This is a retrospective, multicenter study of ophthalmic, systemic, and genetic features, as collected from medical records of patients diagnosed with infantile nystagmus and foveal hypoplasia. Ophthalmic findings include best-corrected visual acuity (BCVA), biomicroscopic examination, cycloplegic refraction, retinal examination, macular optical coherence tomography, and electroretinography. Read More

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February 2021

Current landscape of Oculocutaneous Albinism in Japan.

Pigment Cell Melanoma Res 2021 Mar 7;34(2):190-203. Epub 2020 Oct 7.

Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

Oculocutaneous albinism (OCA), which is roughly divided into non-syndromic and syndromic OCA, is a group of autosomal recessive disorders caused by mutations in genes associated with pigmentation. Patients with OCA have hypopigmentation and ocular manifestations such as photophobia, amblyopia, and nystagmus. Hermansky-Pudlak syndrome (HPS), the most common syndromic OCA, is characterized by the additional features of a bleeding tendency and other critical systemic comorbidities such as pulmonary fibrosis and immunodeficiency. Read More

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Ocular albinism with infertility and late-onset sensorineural hearing loss.

Am J Med Genet A 2018 07;176(7):1587-1593

Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.

Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway. Read More

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Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.

J Hum Genet 2016 Sep 26;61(9):839-42. Epub 2016 May 26.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction and ceroid deposition. We report suspected ocular albinism in two Japanese sisters, caused by mutations in the HPS6 (Hermansky-Pudlak syndrome 6) gene. Trio-based whole-exome sequencing (WES) identified novel compound heterozygous mutations in HPS6 (c. Read More

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September 2016

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.

Br J Ophthalmol 2016 May 25;100(5):704-7. Epub 2015 Aug 25.

Division of Neuro-ophthalmology, Department of Neurology, New York University School of Medicine, New York, New York, USA.

Background: The classic form of Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder of lysosomal trafficking with childhood onset caused by mutations in ITALIC! LYST, is typified ophthalmologically by ocular albinism with vision loss attributed to foveal hypoplasia or nystagmus. Optic nerve involvement and ophthalmological manifestations of the late-onset neurodegenerative form of CHS are rarely reported and poorly detailed.

Methods: Case series detailing ophthalmological and neurological findings in three adult siblings with the late-onset form of CHS. Read More

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Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

PLoS One 2015 28;10(4):e0125651. Epub 2015 Apr 28.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, P. R. China.

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively.

Objective: The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Read More

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Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.

Can J Neurol Sci 2014 Sep;41(5):626-31

Departments of Paediatrics,Western University,London,Ontario,Canada.

Background: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of lysosomal metabolism. The clinical phenotypic spectrum encompasses overlapping features of variable severity and is suggestive of individual single sulfatase deficiencies (i.e. Read More

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September 2014

The hermansky-pudlak syndrome: clinical features and imperatives from an ophthalmic perspective.

Semin Ophthalmol 2013 Sep-Nov;28(5-6):387-91

Department of Ophthalmology, Children's Hospital Boston, Harvard Medical School, Boston , Massachusetts , USA.

The Hermansky-Pudlak Syndrome (HPS) is a rare, autosomal recessive condition comprising nine genetically heterogeneous entities that feature oculocutaneous albinism (OCA) and bleeding tendency as their principal clinical manifestations. The pathogenesis of HPS involves disturbances in the biogenesis and trafficking of lysosome-related organelles. While the ophthalmologist is trained to address the ocular manifestations of OCA, it is critical for the provider to consider HPS when examining OCA patients as its systemic sequelae may be associated with morbidity and mortality. Read More

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Lyonization in ophthalmology.

Curr Opin Ophthalmol 2013 Sep;24(5):389-97

Wills Eye Institute, Philadelphia, Pennsylvania 19107, USA.

Purpose Of Review: To describe the entity of Lyonization in ocular eye diseases, along with its clinical and counseling implications.

Recent Findings: Several X-linked ocular diseases such as choroideremia, X-linked retinitis pigmentosa, and X-linked ocular albinism may have signs of Lyonization on ocular examination and diagnostic testing. These findings may aid in the proper diagnosis of ocular disease in both female carriers and their affected male relatives. Read More

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September 2013

A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.

J Korean Med Sci 2012 Oct 2;27(10):1273-7. Epub 2012 Oct 2.

Greencross Reference Laboratory, Seoul, Korea.

Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13. Read More

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October 2012

Albinism for the busy clinician.

J AAPOS 2011 Feb;15(1):59-66

Wills Eye Institute, Pediatric Ophthalmology and Ocular Genetics, Philadelphia, Pennsylvania 19107, USA.

Albinism is a group of disorders characterized principally by its ophthalmic features with or without systemic manifestations. Persons with albinism manifest a wide variety of phenotypes and limited number of genotypes. Modern molecular genetics has encouraged a new classification and understanding of the subtypes of these disorders. Read More

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February 2011

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Invest Ophthalmol Vis Sci 2011 Mar 14;52(3):1281-9. Epub 2011 Mar 14.

Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

Purpose: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.

Methods: DNA samples from 45 patients with ocular manifestations of albinism were analyzed by direct sequencing analysis of five genes responsible for albinism: TYR, P, TYRP1, SLC45A2 (MATP), and OA1. All patients studied showed a variable degree of skin and hair hypopigmentation. Read More

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Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

Am J Med Genet A 2010 Jul;152A(7):1730-4

Genetica Medica, Dipartimento di Scienze Biomediche, Università degli Studi di Foggia, Foggia, Italy.

X;Y translocation is a relatively rare event in humans. Analyzed cytogenetically, the majority of these aberrations have breakpoints at Xp22 and Yq11. Females with t(X;Y)(p22;q11) are phenotypically normal except for short stature, while the males may have abnormalities. Read More

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Albinism and its implications with vision.

Insight 2009 Apr-Jun;34(2):13-6

Professional Eye Center, P.O. Box 10122, Mackay, Queensland, Australia 4740.

Albinism is an inherited disorder characterized by a reduction or absence of melanin in the hair, skin, and/or eyes. Tyrosinase, a major enzyme required in the production of melanin, is deficient to varying degrees in albinism. Albinism can be divided into one of two broad categories, oculocutaneous and ocular albinism, based on the involvement of hair, skin and the eyes versus only the eyes, respectively. Read More

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November 2009

Oculocutaneous albinism type 1A: a case report.

Ali Karaman

Dermatol Online J 2008 Nov 15;14(11):13. Epub 2008 Nov 15.

Department of Medical Genetics, Erzurum Training and Research Hospital, Turkey.

The term, oculocutaneous albinism (OCA), describes a group of inherited disorders of melanin biosynthesis that exhibits congenital hypopigmentation of ocular and cutaneous tissues. The clinical spectrum of OCA ranges from a complete lack of melanin pigmentation to mildly hypopigmented forms. OCA1A is the most severe type with a complete lack of melanin production throughout life; the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Read More

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November 2008

Oculocutaneous albinism.

Orphanet J Rare Dis 2007 Nov 2;2:43. Epub 2007 Nov 2.

Kennedy Center, National Research Center for Genetics, visual Impairment and Mental Retardation, Gl, Landevej 7, 2600 Glostrup, Denmark.

Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Read More

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November 2007

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Eur J Med Genet 2007 Jul-Aug;50(4):301-8. Epub 2007 May 21.

U.O.C. di Genetica Medica, A.O.R.N. Gaetano Rummo, S.S. di Citogenetica Medica e Genetica Molecolare, Via dell'Angelo, 1, I-82100 Benevento, Italy.

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism, short stature and mental retardation. We report on a boy with ichthyosis, dysmorphic features and mental retardation with ADHD. Read More

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September 2007

A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.

Am J Med Genet A 2007 Jan;143A(2):135-41

Department of Pediatrics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.

Males with deletions of or within Xp22.3-pter display variable contiguous gene syndromes including manifestations of Léri-Weill syndrome, chondrodysplasia punctata, mental retardation, ichthyosis, Kallmann syndrome, and ocular albinism. Herein, we report on a male infant with a large, cytogenetically visible, terminal Xp deletion defined by extensive FISH and STS marker analysis to encompass 9. Read More

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January 2007

Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

Ophthalmology 2004 Aug;111(8):1599-603

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

Purpose: To compare clinically 2 different subtypes of Hermansky-Pudlak syndrome (HPS), type 1 (HPS-1) and type 3 (HPS-3).

Design: Cross-sectional study of a series of patients.

Participants: Sixteen patients with HPS-1 and 14 patients with HPS-3 were studied. Read More

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The child's eye in systemic diseases.

Pediatr Clin North Am 2003 Feb;50(1):241-58, ix

Department of Ophthalmology and Visual Sciences, Section of Pediatric Ophthalmology and Strabismus, University of Illinois at Chicago, 1855 W. Taylor, Chicago, IL 60612, USA.

This article briefly describes the ocular manifestations of pediatric systemic diseases and gives practical advice regarding the management of the ocular involvement by the primary health care provider. Read More

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February 2003

Oculocutaneous albinism.

J Eur Acad Dermatol Venereol 2003 May;17(3):251-6

Department of Dermatology and Paediatrics, New Jersey Medical School, Newark, New Jersey 07103-2714, USA.

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Read More

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[Types of albinism and their ocular and cutaneous manifestations].

Kinderkrankenschwester 1999 Jun;18(6):235-41

Augenklinik und Poliklinik, Universität des Saarlandes, Homburg, Saar.

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Two spectral types of retinal light damage occur in albino as well as in pigmented rat: no essential role for melanin.

Exp Eye Res 1998 Feb;66(2):155-62

Helmholtz Institute, Department of Ophthalmology, Utrecht University, P.O. Box 85500, Utrecht, GA, NL-3508, The Netherlands.

Earlier we showed that two spectral types of retinal damage occur in the pigmented rat. In the present study we investigated whether the same is true for albino rats. When investigating this issue we implicitly investigated the role of melanin in both damage types. Read More

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February 1998

Albinism: an update and review of the literature.

J Am Optom Assoc 1997 Oct;68(10):623-45

University of Waterloo, School of Optometry, Ontario, Canada.

Background: Albinism can be a diagnostic challenge to the optometrist, with ocular albinism the entity most likely to be overlooked or misdiagnosed. Albinism should be suspect in a child with nystagmus.

Methods: Albinism is best diagnosed by electron microscopy of skin or hair bulbs. Read More

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October 1997