5,675 results match your criteria Albinism

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

Am J Med Genet A 2021 Jun 24. Epub 2021 Jun 24.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.

From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery to the development of therapies designed to subvert biochemical defects. In this review, we highlight major milestones in the treatment and diagnosis of inborn errors of metabolism, starting with dietary therapy for phenylketonuria in the 1950s and 1960s, and ending with current approaches in genetic manipulation. Read More

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Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients.

Rev Assoc Med Bras (1992) 2021 Jan;67(1):77-82

Hospital Universitário Professor Edgard Santos, Departamento de Dermatologia - Salvador (BA), Brasil.

Objective: Oculocutaneous albinism describes a group of pigmentary disorders that lead to skin sensitivity and predisposition to skin malignances.

Aims: To analyze clinical and epidemiological data in oculocutaneous albinism patients and to determine the prevalence of malignant skin lesions, assessing possible risk factors for skin cancer.

Methods: Cross-sectional study evaluating epidemiological data, habits of sun exposure and sun protection, and clinical examination of albino patients followed in a reference dermatology outpatient clinic in Brasil. Read More

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January 2021

Bilateral pellucid marginal degeneration with oculocutaneous albinism.

BMJ Case Rep 2021 Jun 22;14(6). Epub 2021 Jun 22.

Vitreoretina, LV Prasad Eye Institute Bhubaneswar Campus, Bhubaneswar, India

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Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.

Clin Exp Allergy 2021 Jun 22. Epub 2021 Jun 22.

Université de Paris, UMRS 1124, INSERM, Paris, France.

Background: Numerous genes have been associated with the three most common allergic diseases (asthma, allergic rhinitis or eczema) but these genes explain only a part of the heritability. In the vast majority of genetic studies, complex phenotypes such as co-morbidity of two of these diseases, have not been considered. This may partly explain missing heritability. Read More

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Effect of silver nitrate and growth regulators to enhance anther culture response in wheat ( L.).

Heliyon 2021 May 28;7(5):e07075. Epub 2021 May 28.

Plant Biotechnology and Genetic Engineering Lab., Institute of Biological Sciences, University of Rajshahi, Rajshahi 6205, Bangladesh.

Application of chemical substances as stress pre-treatment factors may positively influence androgenetic responses in cereal and other crops. AgNO is an anti-ethylene compounds that played a significant role in combination with other chemicals for anther culture responses in cereal and other crop plants. For this study two local wheat cultivars . Read More

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Living with albinism in an African community: exploring the challenges of persons with albinism in Lilongwe District, Malawi.

Heliyon 2021 May 12;7(5):e07034. Epub 2021 May 12.

Department of Social Work University of Ghana, Ghana.

Background: Albinism is a genetic condition caused by a deficit in the production of the pigment called melanin, which protects the skin against ultraviolet light and provides the skin with its color production. The condition may predispose persons with albinism (PWAs) to lifelong physical and health problems, such as visual impairment and ultra-violet induced skin damage. Due to this condition, we explored the challenges faced by persons living with albinism as they socialize in Lilongwe District, Malawi. Read More

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Single organelle measurements of melanosome pH using the novel ratiometric indicator RpHiMEL.

Methods Enzymol 2021 27;654:315-344. Epub 2021 Apr 27.

Department of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI, United States. Electronic address:

Melanocytes are specialized cells that produce melanin pigments responsible for skin, hair, and eye pigmentation. The synthesis and storage of melanin occurs in unique lysosome-related organelles called melanosomes, which regulate melanin production via complex regulatory mechanisms. Maintenance of the melanosome luminal ionic environment and pH is crucial for proper function of the main melanogenic enzymes. Read More

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Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.

Transl Vis Sci Technol 2021 May;10(6):22

Department of Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.

Purpose: Adaptive optics scanning light ophthalmoscopy (AOSLO) imaging in patients with achromatopsia (ACHM) and albinism is not always successful. Here, we tested whether optical coherence tomography (OCT) measures of foveal structure differed between patients for whom AOSLO images were either quantifiable or unquantifiable.

Methods: The study included 166 subjects (84 with ACHM; 82 with albinism) with previously acquired OCT scans, AOSLO images, and best-corrected visual acuity (BCVA, if available). Read More

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Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Sci Rep 2021 Jun 2;11(1):11572. Epub 2021 Jun 2.

Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.

To describe the phenotype of Dutch patients with oculocutaneous albinism type 4 (OCA4), we collected data on pigmentation (skin, hair, and eyes), visual acuity (VA), nystagmus, foveal hypoplasia, chiasmal misrouting, and molecular analyses of nine Dutch OCA4 patients from the Bartiméus Diagnostic Center for complex visual disorders. All patients had severely reduced pigmentation of skin, hair, and eyes with iris transillumination over 360 degrees. Three unrelated OCA4 patients had normal VA, no nystagmus, no foveal hypoplasia, and no misrouting of the visual pathways. Read More

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Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.

BMC Pediatr 2021 05 31;21(1):253. Epub 2021 May 31.

Hematology Center; Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100045, Beijing, China.

Background: Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described. Read More

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A Novel BLOC1S5-Related HPS-11 Patient and Zebrafish with bloc1s5 Disruption.

Pigment Cell Melanoma Res 2021 May 31. Epub 2021 May 31.

Translation research institute of brain and brain-like intelligence, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai, China.

HPS (Hermansky-Pudlak Syndrome) cases present with a variable degree of OCA and bleeding tendency. HPS is categorized into eleven types based on eleven causative genes and disease severity varies among different types. By whole exome sequencing performed on a family trio and Sanger sequencing of candidate variants, we identified a novel homozygous variant (NM_201280. Read More

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Management of albinism: French guidelines for diagnosis and care.

J Eur Acad Dermatol Venereol 2021 Jul 27;35(7):1449-1459. Epub 2021 May 27.

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France.

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Read More

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Clinical and Electrophysiological Outcomes After Eye Muscle Surgery in 81 Adults With Infantile Nystagmus Syndrome.

J Pediatr Ophthalmol Strabismus 2021 Mar-Apr;58(2):93-104. Epub 2021 Mar 1.

Purpose: To characterize the effects of eye muscle surgery on patients older than 18 years with infantile nystagmus syndrome (INS) who have had only optical treatment.

Methods: This was a prospective, single-center, interventional case series analysis of clinical and electro-phyisological data before and after surgery. Outcome measures included: clinical characteristics, surgical procedure, and preoperative and postoperative binocular best corrected visual acuity (BCVA) in the null position, anomalous head posture (AHP), contrast sensitivity, strabismic deviation, and nystagmus acuity function (NAFX). Read More

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Chlorophyll deficiency delays but does not prevent melanogenesis in barley seed melanoplasts.

Protoplasma 2021 May 25. Epub 2021 May 25.

Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (ICG SB RAS), Novosibirsk, 630090, Russia.

Plant melanin is a dark polymerized polyphenolic substance that can by synthesized in seed tissues. Unlike well-defined enzymatic browning reaction leading to melanin synthesis in senescent and damaged plant tissues, melanin formation in intact tissues was not studied properly. Recently, melanin synthesis was demonstrated in chloroplast-derived melanoplasts in pericarp and husk cells of barley seeds. Read More

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Melanosome biogenesis in the pigmentation of mammalian skin.

Integr Comp Biol 2021 May 22. Epub 2021 May 22.

Department of Pathology & Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA USA.

Melanins, the main pigments of the skin and hair in mammals, are synthesized within membrane-bound organelles of melanocytes called melanosomes. Melanosome structure and function are determined by a cohort of resident transmembrane proteins, many of which are expressed only in pigment cells, that localize specifically to melanosomes. Defects in the genes that encode melanosome-specific proteins or components of the machinery required for their transport in and out of melanosomes underlie various forms of ocular or oculocutaneous albinism, characterized by hypopigmentation of the hair, skin and eyes and by visual impairment. Read More

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Transcriptional co-activator regulates melanocyte differentiation and oncogenesis by integrating cAMP and MAPK/ERK pathways.

Cell Rep 2021 May;35(7):109136

Clayton Foundation Laboratories for Peptide Biology, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. Electronic address:

The cyclic AMP pathway promotes melanocyte differentiation by activating CREB and the cAMP-regulated transcription co-activators 1-3 (CRTC1-3). Differentiation is dysregulated in melanomas, although the contributions of CRTC proteins is unclear. We report a selective differentiation impairment in CRTC3 KO melanocytes and melanoma cells, due to downregulation of oculo-cutaneous albinism II (OCA2) and block of melanosome maturation. Read More

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Aberrant visual population receptive fields in human albinism.

J Vis 2021 May;21(5):19

Department of Radiology, Medical College of Wisconsin, Milwaukee, WI, USA.

Retinotopic organization is a fundamental feature of visual cortex thought to play a vital role in encoding spatial information. One important aspect of normal retinotopy is the representation of the right and left hemifields in contralateral visual cortex. However, in human albinism, many temporal retinal afferents decussate aberrantly at the optic chiasm resulting in partially superimposed representations of opposite hemifields in each hemisphere of visual cortex. Read More

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Inadvertent Globe Penetration and Subretinal injection of Botulinum Toxin in an Oculocutaneous Albinism Patient.

Retin Cases Brief Rep 2021 May 12. Epub 2021 May 12.

Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia King Fahad University Hospital, Alkhobar, Kingdom of Saudi Arabia. Pediatric Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Purpose: To present a case of localized retinal detachment and mild vitreous hemorrhage in a patient with oculocutaneous albinism following accidental intraocular injection of botulinum toxin A.

Methods: Botulinum toxin A injection were administered to a 5-year old oculocutaneous albinism patient with esotropia, and resulted in an ocular penetration. Dilated fundus examination indicated a nasal retinal tear causing a mild vitreous hemorrhage and a localized retinal detachment. Read More

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Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex.

Front Pharmacol 2021 28;12:602206. Epub 2021 Apr 28.

Department of Biochemistry and Molecular Pharmacology, NYU Grossman School of Medicine, New York, NY, United States.

Tyrosinase (TYR) is a copper-containing monooxygenase central to the function of melanocytes. Alterations in its expression or activity contribute to variations in skin, hair and eye color, and underlie a variety of pathogenic pigmentary phenotypes, including several forms of oculocutaneous albinism (OCA). Many of these phenotypes are linked to individual missense mutations causing single nucleotide variants and polymorphisms (SNVs) in . Read More

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[Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):472-476

School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.

Objective: To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism.

Methods: Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Read More

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Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.

Pigment Cell Melanoma Res 2021 May 7. Epub 2021 May 7.

Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Madrid, Spain.

Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non-syndromic and syndromic types of OCA, depending on whether the gene product affected impairs essentially the function of melanosomes or, in addition, that of other lysosome-related organelles (LROs), respectively. Syndromic OCA can be more severe and associated with additional systemic consequences, beyond pigmentation and vision alterations. Read More

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Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.

Hum Genet 2021 May 6. Epub 2021 May 6.

Institute of Human Genetics, University Medical Center Hamburg Eppendorf (UKE), Martinistr. 52, 20246, Hamburg, Germany.

Infantile nystagmus syndrome (INS) denominates early-onset, involuntary oscillatory eye movements with different etiologies. Nystagmus is also one of the symptoms in oculocutaneus albinism (OCA), a heterogeneous disease mainly caused by defects in melanin synthesis or melanosome biogenesis. Dopachrome tautomerase (DCT, also called TYRP2) together with tyrosinase (TYR) and tyrosin-related protein 1 (TYRP1) is one of the key enzymes in melanin synthesis. Read More

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Foveal avascular zone in oculocutaneous albinism.

BMJ Case Rep 2021 May 4;14(5). Epub 2021 May 4.

Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon

Optical coherence tomography angiography imaging in two patients with oculocutaneous albinism, one with severe nystagmus, showed persistence of both the superficial and the deep retinal capillary plexus adding another vascular feature to the foveal hypoplasia. Read More

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Malawian mothers' experiences of raising children living with albinism: A qualitative descriptive study.

Afr J Disabil 2021 20;10:693. Epub 2021 Apr 20.

Division of Nursing and Midwifery, Department of Health and Rehabilitation Sciences, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Background: Albinism in humans is characterised by a reduced amount of pigment (melanin) present in the skin, hair follicles and the eye; approximately 7000-10 000 Malawians of all ages are affected. Children with these features face extreme forms of human rights abuses, even death.

Objectives: This study aims to describe Malawian mothers' experiences, perceptions and understanding of raising children with albinism (CWA). Read More

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Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6.

Eur J Med Genet 2021 Jun 18;64(6):104228. Epub 2021 Apr 18.

Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, China. Electronic address:

Hermansky-Pudlak syndrome is a rare, autosomal, recessive syndromic form of albinism characterized by oculocutaneous albinism, bleeding diathesis, and a series of clinical complications. It is rarely reported in China, even with its large population base. In this study, we describe the clinical phenotypes and genotypes of five unrelated Chinese Hermansky-Pudlak syndrome pedigrees following clinical observation and next-generation sequencing. Read More

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encoding porphobilinogen deaminase plays an important role in chlorophyll biosynthesis and function in albino var. leaves.

PeerJ 2021 30;9:e11118. Epub 2021 Mar 30.

College of Landscape Architecture, Sichuan Agricultural University, Chengdu, China.

Background: The chimeric leaves of var. are composed of normal green parts (Grs) and albino white parts (Whs). Although the underlying mechanism of albinism in var. Read More

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Hermansky-Pudlak Syndrome: A Rare Cause of Post-polypectomy Bleeding.

Cureus 2021 Mar 9;13(3):e13781. Epub 2021 Mar 9.

Gastroenterology, BronxCare Health System, Bronx, USA.

A colonoscopy is an effective tool for colorectal cancer screening, which aims at identifying precancerous polyps and removing them. Post-polypectomy bleeding (PPB) is one of the most common complications of endoscopic polypectomy. Here, we report a rare and interesting case of a 68-year-old man known to have Hermansky-Pudlak syndrome (HPS) who presented with two days history of rectal bleeding one day after he had a screening colonoscopy with polypectomy. Read More

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Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.

Front Pharmacol 2021 18;12:644671. Epub 2021 Mar 18.

Department of Molecular Microbiology and Immunology, Brown University, Providence, RI, United States.

Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis. HPS pulmonary fibrosis (HPS-PF) occurs in 100% of patients with subtype HPS-1 and has a similar presentation to idiopathic pulmonary fibrosis. Upon onset, individuals with HPS-PF have approximately 3 years before experiencing signs of respiratory failure and eventual death. Read More

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[Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Apr;38(4):317-320

Center of Genetic and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China.

Objective: To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family.

Methods: Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up. Read More

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Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Genes (Basel) 2021 Mar 30;12(4). Epub 2021 Mar 30.

Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, . Read More

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