Sensory - Vision Abnormalities: Difference between revisions
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* '''Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations'''<ref><pubmed>22204637</pubmed></ref>"Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M." | * '''Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations'''<ref><pubmed>22204637</pubmed></ref>"Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M." | ||
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Revision as of 19:03, 14 October 2015
Embryology - 26 Apr 2024 Expand to Translate |
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Introduction
These notes introduce the abnormal development of the eye and vision associated structures.
Anophthalmia (absence of an eye) and microphthalmia (small eye within the orbit) have a combined birth prevalence of approximately 30 per 100,000 population.[2]
Genetic factors include developmental transcription factors required for inductive/developmental events in the structure of the eye and retina development.
Many environmental factors during development can lead to vision abnormalities, including gestational-acquired infections, maternal vitamin A deficiency, smoking, X-ray exposure, solvent misuse and thalidomide exposure. A pregnancy Rubella viral infection example may cause blindness associated with congenital rubella syndrome.
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Developmental Vision Abnormalities <pubmed limit=5>Developmental Vision Abnormalities</pubmed> |
Neonatal Vision
Vision in the developing infant can be assessed by a number of tests for: central vision, stereoscopic (binocular) vision, refraction, color vision, contrast vision, scotopic/photopic (dark/light) vision (retina/rods), and tracking (following and saccades), (retina, oculomotor muscles).
Preterm infants have been shown to develop a number of vision related abnormalities including: visual impairment, oculomotor abnormalities, and refractive error.[6]
normal behaviour | cranial nerves |
Anophthalmia
Anophthalmia is clinical description for the absence of an eye. Gene mutation of SOX2, a developmental transcription factor, has been associated with this condition.
Microphthalmia
Microphthalmia is clinical description for the presence of a small eye within the orbit and occurs in up to 11% of blind children.
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000 Aug;25(4):397-401.
Syndromic microphthalmia-9 can be caused by mutations in the Stimulated by Retinoic Acid 6 (STRA6) gene. OMIM - MCOPS9
Bardet-Biedl Syndrome
(BBS) is an abnormality with triallelic inheritance and is characterized by a range of multisystem abnormalities incliuding postnatal developmental blindness.
cone-rod dystrophy truncal obesity postaxial polydactyly cognitive impairment neural development male hypogonadotrophic hypogonadism female genitourinary malformations renal dysfunction (More? OMIM - Bardet-Biedl syndrome | GeneReviews - Bardet-Biedl syndrome)
Pax6 Mutation
Phenotypes of wild-type (top) and PAX6 ortholog mutations (bottom) in human, mouse, zebrafish, and fly.[7]
Human mutations may result in aniridia (absence of iris), corneal opacity (aniridia-related keratopathy), cataract (lens clouding), glaucoma, and long-term retinal degeneration.
Congenital Rubella Syndrome
Congenital rubella syndrome (CRS) occurs as a result of a maternal rubella infection during the first trimester of pregnancy and is most commonly associated neural, cardiac and sensory abnormalities. Approximately 25% suffer from congenital cataracts and other eye abnormalities include pigmentary retinopathy and iris hypoplasia.
World Statistics
Sweden
Rate of anophthalmia decreased from the early 1970s from 0.4 to 0.2 per 10,000 births. Non-eye malformations were more common at anophthalmia (63%) than at microphthalmia (30%) Maternal smoking in early pregnancy seemed to increase the risk for anophthalmia or microphthalmia in the absence of a coloboma.[8]
United Kingdom
1988-94 prevalence of anophthalmia and microphthalmia was 1.0 per 10,000 births.[9]
USA California
1989-1997 prevalence per 10,000 livebirths and stillbirths for anophthalmia was 0.18 and for bilateral microphthalmia was 0.22. Risk of anophthalmia was approximately twofold among multiple births compared to singletons. (More? Shaw GM, etal., 2005)
References
- ↑ <pubmed>25525427</pubmed>| PMC4262751 | Int J Telemed Appl. 2
- ↑ <pubmed>18039390</pubmed>
- ↑ <pubmed22432014 </pubmed>
- ↑ <pubmed>22450217</pubmed>
- ↑ <pubmed>22204637</pubmed>
- ↑ <pubmed>12014889</pubmed>
- ↑ <pubmed>19956802</pubmed>| PLoS Biol.
- ↑ <pubmed>15971507</pubmed>
- ↑ <pubmed>10194985</pubmed>
Online Textbooks
- Developmental Biology (6th ed.) Gilbert, Scott F. Sunderland (MA): Sinauer Associates, Inc.; c2000. | Chick embryo rhombomere neural crest cells | Some derivatives of the pharyngeal arches | Formation of the Neural Tube | Differentiation of the Neural Tube | Tissue Architecture of the Central Nervous System | Neuronal Types | Snapshot Summary: Central Nervous System and Epidermis
- Neuroscience Purves, Dale; Augustine, George J.; Fitzpatrick, David; Katz, Lawrence C.; LaMantia, Anthony-Samuel; McNamara, James O.; Williams, S. Mark. Sunderland (MA): Sinauer Associates, Inc. ; c2001 Early Brain Development | Construction of Neural Circuits | Modification of Brain Circuits as a Result of Experience
- Molecular Biology of the Cell (4th Edn) Alberts, Bruce; Johnson, Alexander; Lewis, Julian; Raff, Martin; Roberts, Keith; Walter, Peter. New York: Garland Publishing; 2002. Neural Development | The three phases of neural development
- Clinical Methods 63. Cranial Nerves IX and X: The Glossopharyngeal and Vagus Nerves | The Tongue | 126. The Ear and Auditory System | An Overview of the Head and Neck - Ears and Hearing | Audiometry
- Health Services/Technology Assessment Text (HSTAT) Bethesda (MD): National Library of Medicine (US), 2003 Oct. Developmental Disorders Associated with Failure to Thrive
- Eurekah Bioscience CollectionCranial Neural Crest and Development of the Head Skeleton
Reviews
Bookshelf vision development
Search Pubmed
- Pubmed vision developmental abnormalities | Congenital Rubella Blindness | Anophthalmia | Microphthalmia | retinal stem cell therapy
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Cite this page: Hill, M.A. (2024, April 26) Embryology Sensory - Vision Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Sensory_-_Vision_Abnormalities
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G