89 results match your criteria: "Ocular Manifestations of Albinism"
Cesk Slov Oftalmol
November 2017
Objective: Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
June 2016
Department of Ophthalmology, Columbia University, New York, New York, United States 2Department of Pathology & Cell Biology, Columbia University, New York, New York, United States.
Purpose: To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes.
Methods: Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for varying laser power detector sensitivity, spectral-domain optical coherence tomography, and full-field ERG testing. Complete sequencing of the ABCA4 and GPR143 genes was carried out in each individual.
J Hum Genet
September 2016
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.
View Article and Find Full Text PDFJ Cataract Refract Surg
November 2015
From Noor Ophthalmology Research Center, Noor Eye Hospital (Farahi, Hashemi, Mehravaran), Tehran, Iran; Farabi Eye Hospital, Tehran University of Medical Sciences (Hashemi), Tehran, Iran.
Purpose: To present results of cataract surgery combined with aniridia ring implantation in patients with oculocutaneous albinism (OCA) in terms of vision, refraction, eye movements, and subjective photophobia and glare.
Setting: Anterior segment services of Noor Eye Hospital, Tehran, Iran.
Design: Consecutive clinical case series study.
Br J Ophthalmol
May 2016
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.
PLoS One
April 2016
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.
Can J Neurol Sci
September 2014
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.
View Article and Find Full Text PDFPediatr Neonatol
October 2014
Ophthalmology Group, University of Leicester, Faculty of Medicine and Biological Sciences, Leicester Royal Infirmary, Leicester, United Kingdom. Electronic address:
Nystagmus is an involuntary rhythmic oscillation of the eyes, which leads to reduced visual acuity due to the excessive motion of images on the retina. Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired nystagmus (AN), which appears later. IN can be idiopathic or associated to albinism, retinal disease, low vision, or visual deprivation in early life, for example due to congenital cataracts, optic nerve hypoplasia, and retinal dystrophies, or it can be part of neurological syndromes and neurologic diseases.
View Article and Find Full Text PDFOphthalmology
December 2013
Ophthalmology Group, University of Leicester, Leicester Royal Infirmary, Leicester, United Kingdom. Electronic address:
Objective: To investigate the feasibility of handheld (HH) ultra-high-resolution spectral-domain optical coherence tomography (SD-OCT) in young children with nystagmus, to determine its sensitivity and specificity in classifying foveal abnormalities, and to investigate its potential to determine the cause of infantile nystagmus with the use of foveal morphology.
Design: Prospective, case-control study.
Participants And Controls: A total of 50 patients with nystagmus and 50 healthy control subjects (mean age, 3.
Semin Ophthalmol
April 2014
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.
View Article and Find Full Text PDFCurr Opin Ophthalmol
September 2013
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.
J Korean Med Sci
October 2012
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.
View Article and Find Full Text PDFJ Clin Invest
October 2011
Unit on Pediatric, Developmental, and Genetic Eye Disease, National Eye Institute, NIH, Bethesda, Maryland 20892, USA.
Mutation of the tyrosinase gene (TYR) causes oculocutaneous albinism, type 1 (OCA1), a condition characterized by reduced skin and eye melanin pigmentation and by vision loss. The retinal pigment epithelium influences postnatal visual development. Therefore, increasing ocular pigmentation in patients with OCA1 might enhance visual function.
View Article and Find Full Text PDFJ AAPOS
February 2011
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.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
March 2011
Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
Am J Med Genet A
July 2010
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.
View Article and Find Full Text PDFAm J Med Genet A
August 2009
Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
X-linked ocular albinism (OA1) is the most common form of ocular albinism. Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopigmentation, macular hypoplasia, and normally pigmented skin and hair. However, OA1 has rarely been reported in China.
View Article and Find Full Text PDFInsight
November 2009
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.
View Article and Find Full Text PDFDermatol Online J
November 2008
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.
View Article and Find Full Text PDFEur J Med Genet
June 2008
INSERM U679, Hôpital de la Salpêtrière, Paris, France.
Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a partial nullisomy of the X chromosome have led to the identification of the VCX-3A gene at the MRX49 locus on Xp22.
View Article and Find Full Text PDFOrphanet J Rare Dis
November 2007
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.
View Article and Find Full Text PDFEur J Med Genet
September 2007
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.
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