89 results match your criteria: "Ocular Manifestations of Albinism"
Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum.
Cureus
August 2024
Department of Surgery, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.
Article Synopsis
- A 22-year-old male was diagnosed with ocular albinism (OA) and presented with symptoms including skin depigmentation and abnormal eye features.
- A detailed eye exam revealed issues like nystagmus (involuntary eye movement) and foveal hypoplasia (underdevelopment of the central retina).
- The report emphasizes the need for thorough exams and genetic testing for proper diagnosis and management of OA patients.
Genotype-Phenotype Correlation Model for the Spectrum of -Associated Albinism.
Diagnostics (Basel)
July 2024
University Eye Department, Reference Center of the Ministry of Health of the Republic of Croatia for Inherited Retinal Dystrophies, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, University Hospital "Sveti Duh", 10000 Zagreb, Croatia.
Article Synopsis
- Two siblings aged 3 and 5 share the same genotype but display different eye, skin, and hair colors due to pathogenic and risk-factor genetic variants.
- One child has more severe hypopigmentation and vision issues, while the other has brown eyes and some visual capabilities.
- The study proposes a model linking genotype to phenotype that suggests reduced pigmentation may impact binocular functions and strabismus, which hasn’t been previously reported.
Analysis of Lipoprotein Signaling in Iris Melanocytes.
Methods Mol Biol
July 2024
Miller School of Medicine, University of Miami, Miami, FL, USA.
Article Synopsis
- - Lipids, particularly cholesterol, play key roles in biological functions like cell structure, metabolism, and signaling, influencing processes such as melanocyte growth and melanosome maturation.
- - Deficiencies in melanogenesis and melanosome maturation, linked to cholesterol metabolism, contribute to conditions like ocular albinism and pigment dispersion syndrome, which affect the body systematically.
- - The research focuses on analyzing cholesterol levels and signaling via LDL in melanocytes using advanced methods like liquid and gas chromatography coupled with mass spectrometry, providing insights into melanin production and maturation.
Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of -Associated Retinopathy-A Case Report.
Int J Mol Sci
March 2024
Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland.
Article Synopsis
- * A case study presents a 57-year-old man with a history of eye issues, which were also observed in his grandson, detailing symptoms like nystagmus and low visual acuity, along with findings from various eye examinations.
- * Genetic testing revealed a specific mutation contributing to the patient's condition, suggesting that additional unidentified factors may influence the variability of symptoms observed in AIED and related disorders, pointing to a complex
mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.
Mol Vis
February 2024
Department of Ophthalmology, Lixiang Eye Hospital of Soochow University, Suzhou, Jiangsu, China.
Article Synopsis
- * Researchers analyzed 98 families from Southeast China, discovering 11 mutations in the gene responsible for OA1, including seven new mutations, which were linked to various phenotypes of the condition.
- * The findings enhance the understanding of the genetic landscape of INS in this population and highlight the need for genetic screening to improve clinical diagnosis and treatment for patients with atypical symptoms.
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations.
Exp Eye Res
February 2024
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, 510060, China. Electronic address:
Article Synopsis
- Oculocutaneous albinism (OCA) is a genetic disorder affecting melanin production, leading to lighter skin, hair, and eye color, with the OCA1 subtype linked to mutations in the TYR gene.* -
- A study involving 51 individuals diagnosed with OCA found that 37.3% had TYR mutations, revealing various types of genetic changes and highlighting the impact of these mutations on visual impairment.* -
- The clinical examination demonstrated that most patients experienced significant vision issues, with all showing symptoms like photophobia and nystagmus, and 100% of examined cases having severe foveal hypoplasia, suggesting serious ocular complications associated with TYR mutations.*
Copy number variations, which manifest primarily as deletions and duplications, contribute significantly to the genetic risk of schizophrenia. Specific syndromes associated with copy number variations, exemplified by the 22q11 deletion syndrome, confer both congenital abnormalities and an elevated risk of schizophrenia. We report the case of a patient with a deletion of exons 2 through 8 of GPR143.
View Article and Find Full Text PDFConcurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration.
Ophthalmic Genet
August 2023
Department of Ophthalmology, Caritas Medical Centre, Sham Shui Po, Hong Kong.
Article Synopsis
- - A Chinese patient was found to have both pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) due to specific genetic variants in the PANK2 and OCA2 genes, leading to vision issues and neurological symptoms.
- - Genetic testing using next-generation sequencing confirmed the presence of homozygous missense variants in both PANK2 and OCA2, supporting the diagnoses of PKAN and OCA.
- - The study highlights the importance of genetic analysis for diagnosing rare diseases, providing crucial information for patient management and counseling.
Phenotypic variations in ocular features among siblings with oculocutaneous albinism.
Indian J Ophthalmol
July 2022
Brien Holden Eye Research Centre, L.V.Prasad Eye Institute, Hyderabad, Telangana, India.
Article Synopsis
- - The study aimed to evaluate the clinical characteristics and eye features in siblings diagnosed with oculocutaneous albinism (OCA) over a period from 2016 to 2020.
- - Significant differences were found in the visual acuity and refractive errors among the 42 sibling pairs, with half showing a variation of over 2 lines in visual acuity and 80.95% having differing refractive statuses.
- - The findings highlight the complexity and variability in the clinical presentations of OCA, indicating that families need tailored counseling for rehabilitation services based on individual sibling needs.
Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.
Clin Ophthalmol
May 2022
Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK.
Article Synopsis
- - Albinism is a group of genetic disorders that affect melanin production and can lead to eye development issues, with common symptoms in oculocutaneous albinism (OCA) and ocular albinism (OA) like poor visual acuity and eye misrouting.
- - The study focuses on the prevalence, genetics, and ocular effects of OCA and OA, specifically discussing how these conditions can lead to abnormal development of the optic chiasm.
- - It highlights the importance of visual electrophysiology, particularly visual evoked potentials (VEP), in diagnosing chiasmal dysfunction, while also considering other potential disorders that may resemble albinism for differential diagnosis.
Detection of Variants and Phenotypes in Chinese Population: A Single-Center Study.
Front Genet
March 2022
Department of Nephrology, Children's Hospital of Chongqing Medical University, Chongqing, China.
Article Synopsis
- * Analyzed clinical data from 10 children revealed symptoms starting around age 7.2, with all patients experiencing proteinuria and bilateral kidney dysplasia, along with various eye disorders in some.
- * The research identified eight unique variants, including three new ones, and emphasizes the need for genetic testing and early kidney protective treatment due to the poor outcomes associated with these variants.
Ocular manifestations of systemic diseases in children.
Clin Exp Optom
April 2023
Department of Ophthalmology, Children's Health Queensland Hospital and Health Service, Brisbane, Queensland, Australia.
Article Synopsis
- Increased understanding of ocular diseases highlights the connection between eye health and systemic health, especially in vulnerable pediatric patients.
- Ophthalmic manifestations can serve as early indicators of systemic conditions in children, emphasizing the need for thorough eye examinations.
- The text reviews common childhood systemic disorders with eye-related complications and suggests recommendations for referral and ongoing monitoring rather than listing every possible disease.
Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
Arch Dermatol Res
March 2023
Brooklyn Campus of the VA NY Harbor Healthcare System, FACMS, 800 Poly Place, Brooklyn, NY, USA.
Article Synopsis
- - Oculocutaneous albinism (OCA) is a rare genetic condition that results in low melanin levels, leading to lighter skin, hair, and eyes, along with visual issues like nystagmus. - OCA is most common in Africa, where those affected face heightened risks for skin damage and cancers due to lack of UV protection, compounded by health and educational barriers. - The review highlights the need for greater understanding of the psychosocial issues faced by individuals with OCA and suggests that better education and treatment options could improve their overall quality of life.
New insights into the pathogenesis of Hermansky-Pudlak syndrome.
Pigment Cell Melanoma Res
May 2022
Department of Dermatology, Tongren Hospital, Capital Medical University, Beijing, China.
Hermansky-Pudlak syndrome (HPS) is characterized by defects of multiple tissue-specific lysosome-related organelles (LROs), typically manifesting with oculocutaneous albinism or ocular albinism, bleeding tendency, and in some cases with pulmonary fibrosis, inflammatory bowel disease or immunodeficiency, neuropsychological disorders. Eleven HPS subtypes in humans and at least 15 subtypes in mice have been molecularly identified. Current understanding of the underlying mechanisms of HPS is focusing on the defective biogenesis of LROs.
View Article and Find Full Text PDFIdentification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.
BMC Ophthalmol
March 2021
Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
Article Synopsis
- - The study investigates a new mutation in the GPR143 gene, linked to ocular albinism type I (OA1), which typically involves symptoms like nystagmus and hypopigmentation but presents unusually in this case.
- - Researchers examined a large Chinese family affected by this mutation, finding they had poor visual acuity and foveal hypoplasia, yet lacked common features like nystagmus and iris depigmentation.
- - The newly identified mutation (c.939G > A) leads to a protein change (p.W313X) and expands the understanding of genetic variations associated with GPR143 and its effects on eye health.
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
Ophthalmic Genet
June 2021
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Article Synopsis
- The study investigates genetic and clinical characteristics of patients with congenital nystagmus and foveal hypoplasia but with normal eye pigmentation, focusing on their vision impairment and genetic mutations.
- A total of 31 individuals with secure molecular diagnoses were analyzed, revealing that mutations in two genes accounted for 77.4% of cases, with many patients experiencing moderate to severe visual impairment.
- Accurate genetic diagnosis is crucial for understanding disease prognosis and providing appropriate counseling for patients and their families.
Current landscape of Oculocutaneous Albinism in Japan.
Pigment Cell Melanoma Res
March 2021
Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
Article Synopsis
- Oculocutaneous albinism (OCA) is an autosomal recessive disorder affecting pigmentation and is categorized into non-syndromic and syndromic types, leading to symptoms like hypopigmentation and vision problems.
- Hermansky-Pudlak syndrome (HPS) is the most common syndromic form of OCA, additionally causing bleeding issues and serious health conditions like lung disease.
- Recent genetic analysis has helped identify various subtypes of OCA in Japanese patients, revealing OCA4 as the most prevalent, along with multiple rare subtypes and specific gene variants linked to milder forms of the disorder.
Ocular findings of albinism in related intellectual disability syndrome.
Ophthalmic Genet
December 2020
UPMC Eye Center, Pittsburgh, PA, USA.
Article Synopsis
- This case report discusses a child with -related intellectual disability syndrome (DIDS) who showed unusual ocular features, specifically signs of albinism, which haven't been documented before in this condition.
- The 21-month-old female patient presented symptoms such as microcephaly, speech delays, and cardiac defects, alongside eye-related issues like myopia and strabismus, with further testing confirming her unique visual characteristics.
- The findings suggest that ocular albinism could be a new aspect of DIDS, emphasizing the need for comprehensive eye examinations in affected individuals.
Ocular albinism with infertility and late-onset sensorineural hearing loss.
Am J Med Genet A
July 2018
Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
Article Synopsis
- Ocular albinism type 1 (OA1) is linked to mutations in the GPR143 gene, affecting eye color and vision, with additional reports of late-onset hearing loss in some patients.
- A family study revealed an interstitial microdeletion on the X chromosome that includes not only GPR143 but also genes like TBL1X and SHROOM2, which might connect to infertility and hearing issues.
- The research suggests a potential link between the absence of TBL1X and hearing loss but emphasizes that more evidence is needed to confirm this and the relationship between the genetic deletion and male infertility.
[Oculocutaneous and ocular albinism].
Hautarzt
November 2017
Stiftung Hochschulmedizin Dresden, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
Article Synopsis
- - Albinism is categorized into two main types: oculocutaneous albinism (OCA), which affects skin, hair, and eyes, and ocular albinism (OA), which primarily affects the eyes and has different inheritance patterns.
- - OCA has seven subtypes, with the first four well-studied, each linked to specific gene mutations affecting melanin production, leading to varying levels of pigmentation and vision issues.
- - Management of albinism emphasizes UV protection to prevent skin cancer and specialized eye care due to common ocular symptoms, while new treatment approaches are currently being researched.
The use of contact lenses in low vision rehabilitation: optical and therapeutic applications.
Clin Exp Optom
September 2017
Contact Lens and Visual Optics Laboratory, School of Optometry and Vision Science, Queensland University of Technology, Kelvin Grove, Queensland, Australia.
Article Synopsis
- * Contact lenses are discussed as a multifaceted solution for individuals with severe visual impairments, offering not only refractive correction but also therapeutic benefits, especially in cases of congenital diseases.
- * The use of contact lenses can improve not just vision but also psychosocial aspects for low-vision patients, helping with self-esteem and social interactions compared to traditional eyewear.
DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.
Retina
March 2018
University College London Institute of Ophthalmology, University College London, London, United Kingdom.
Article Synopsis
- Albinism is a group of disorders with reduced pigmentation, affecting the eyes and skin, and can sometimes present normally in hair and skin, specifically in ocular albinism linked to mutations in GPR143.
- The study involved female carriers of GPR143 mutations, with advanced retinal imaging techniques used to explore retinal features and confirm atypical cases.
- Findings revealed a novel mutation in one family, with signs of reduced foveal autofluorescence and a unique "tapetal-like" pattern at the macula in some patients, indicating retinal pigment changes in female carriers.