Sensory - Vision Abnormalities
|Embryology - 18 Nov 2017 Expand to Translate|
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- 1 Introduction
- 2 Some Recent Findings
- 3 Neonatal Vision
- 4 Anophthalmia
- 5 Microphthalmia
- 6 Bardet-Biedl Syndrome
- 7 Pax6 Mutation
- 8 Congenital Rubella Syndrome
- 9 Retinopathy of Prematurity
- 10 World Statistics
- 11 Colour Blindness
- 12 References
- 13 External Links
- 14 Glossary Links
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.
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
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Edward Bloch, Maria Pefkianaki, Jamil Hakim An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis. Eur J Ophthalmol: 2017; PubMed 29148029
Tanya L Dilan, Ratnesh K Singh, Thamaraiselvi Saravanan, Abigail Moye, Andrew F X Goldberg, Peter Stoilov, Visvanathan Ramamurthy Bardet-Biedl Syndrome -8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. Hum. Mol. Genet.: 2017; PubMed 29126234
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. Am. J. Hum. Genet.: 2017, 101(5);803-814 PubMed 29100091
Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. Front Genet: 2017, 8;143 PubMed 29062322
Tolulope Adebanjo, Shana Godfred-Cato, Laura Viens, Marc Fischer, J Erin Staples, Wendi Kuhnert-Tallman, Henry Walke, Titilope Oduyebo, Kara Polen, Georgina Peacock, Dana Meaney-Delman, Margaret A Honein, Sonja A Rasmussen, Cynthia A Moore, Contributors Update: Interim Guidance for the Diagnosis, Evaluation, and Management of Infants with Possible Congenital Zika Virus Infection - United States, October 2017. MMWR Morb. Mortal. Wkly. Rep.: 2017, 66(41);1089-1099 PubMed 29049277
Vision in the developing infant can be assessed by a number of tests for: central vision, stereoscopic (binocular) vision, refraction, colour 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.
|normal behaviour||cranial nerves|
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 is clinical description for the presence of a small eye within the orbit and occurs in up to 11% of blind children. A human study has identified microphthalmia can be associated with mutations in the retinal homeobox gene (CHX10). Syndromic microphthalmia-9 can be also be caused by mutations in the Stimulated by Retinoic Acid 6 (STRA6) gene. OMIM - MCOPS9
(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)
Phenotypes of wild-type (top) and PAX6 ortholog mutations (bottom) in human, mouse, zebrafish, and fly.
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.
Retinopathy of Prematurity
(ROP) A vascular proliferative disorder that affects the incompletely vascularized retina in premature neonates, birth weight 1250 grams or less and born before 31 weeks gestation GA are at highest risk. Classified as type 2 progressing to type 1, this is a primary cause of childhood blindness. Due to retinal immaturity, neovascularization occurs leading to retinal traction and retinal detachment, eventually affecting vision.
- 14,000-16,000 of low birthweight (<1.25 kg) infants are affected by some degree of ROP.
- disease improves and leaves no permanent damage in milder cases of ROP.
- 90% of all infants with ROP are in the milder category and do not need treatment.
- About 1,100-1,500 infants annually develop ROP that is severe enough to require medical treatment.
- About 400-600 infants each year in the US become legally blind from ROP.
(Data NIH - National Eye Institute)
- Links: Vision Abnormalities | Birth - Preterm | Sensory - Vision Development | NIH - ROP | American Association for Pediatric Ophthalmology)
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.
1988-94 prevalence of anophthalmia and microphthalmia was 1.0 per 10,000 births.
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)
Most common types of hereditary colour blindness are due to the loss or limited function of red cone (protan) or green cone (deutran) photopigments. This kind of colour blindness is commonly referred to as red-green colour blindness. (note the US spelling color)
- Deuteranomaly In males with deuteranomaly, the green cone photopigment is abnormal. Yellow and green appear redder and it is difficult to tell violet from blue. This condition is mild and doesn’t interfere with daily living. Deuteranomaly is the most common form of colour blindness and is an X-linked disorder affecting 5 percent of males.
- Deuteranopia In males with deuteranopia, there are no working green cone cells. They tend to see reds as brownish-yellow and greens as beige. Deuteranopia is an X-linked disorder that affects about 1 percent of males.
- Protanomaly In males with protanomaly, the red cone photopigment is abnormal. Red, orange, and yellow appear greener and colours are not as bright. This condition is mild and doesn’t usually interfere with daily living. Protanomaly is an X-linked disorder estimated to affect 1 percent of males.
- Protanopia In males with protanopia, there are no working red cone cells. Red appears as black. Certain shades of orange, yellow, and green all appear as yellow. Protanopia is an X-linked disorder that is estimated to affect 1 percent of males.
- Inheritance Pattern images: Autosomal dominant inheritance | Autosomal recessive inheritance | X-Linked dominant (affected father) | X-Linked dominant (affected mother) | X-Linked recessive (affected father) | X-Linked recessive (carrier mother) | Mitochondrial genome inheritance | Codominant inheritance | Genogram symbols | Genetics
- Imran Jivraj, Chris J Rudnisky, Emmanuel Tambe, Graham Tipple, Matthew T S Tennant Identification of ocular and auditory manifestations of congenital rubella syndrome in mbingo. Int J Telemed Appl: 2014, 2014;981312 PubMed 25525427 | PMC4262751 | Int J Telemed Appl. 2
- Amit S Verma, David R Fitzpatrick Anophthalmia and microphthalmia. Orphanet J Rare Dis: 2007, 2;47 PubMed 18039390
- <pubmed22432014 </pubmed>
- Michael D Tibbetts, Michael A Samuel, Tom S Chang, Allen C Ho Stem cell therapy for retinal disease. Curr Opin Ophthalmol: 2012, 23(3);226-34 PubMed 22450217
- Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr, Anne M Slavotinek Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med. Genet.: 2011, 12;172 PubMed 22204637
- E E Birch, A R O'Connor Preterm birth and visual development. Semin Neonatol: 2001, 6(6);487-97 PubMed 12014889
- E Ferda Percin, L A Ploder, J J Yu, K Arici, D J Horsford, A Rutherford, B Bapat, D W Cox, A M Duncan, V I Kalnins, A Kocak-Altintas, J C Sowden, E Traboulsi, M Sarfarazi, R R McInnes Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat. Genet.: 2000, 25(4);397-401 PubMed 10932181
- Nicole L Washington, Melissa A Haendel, Christopher J Mungall, Michael Ashburner, Monte Westerfield, Suzanna E Lewis Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol.: 2009, 7(11);e1000247 PubMed 19956802 | PLoS Biol.
- Salil S Gadkari, Sucheta R Kulkarni, Rushita R Kamdar, Madan Deshpande Successful Surgical Management of Retinopathy of Prematurity Showing Rapid Progression despite Extensive Retinal Photocoagulation. Middle East Afr J Ophthalmol: 2015, 22(3);393-5 PubMed 26180484
- Bengt Källén, Kristina Tornqvist The epidemiology of anophthalmia and microphthalmia in Sweden. Eur. J. Epidemiol.: 2005, 20(4);345-50 PubMed 15971507
- A Busby, H Dolk, R Collin, R B Jones, R Winter Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. Arch. Dis. Child. Fetal Neonatal Ed.: 1998, 79(3);F168-73 PubMed 10194985
- 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
Bookshelf vision development
- Pubmed vision developmental abnormalities | Congenital Rubella Blindness | Anophthalmia | Microphthalmia | retinal stem cell therapy
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Cite this page: Hill, M.A. 2017 Embryology Sensory - Vision Abnormalities. Retrieved November 18, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Sensory_-_Vision_Abnormalities
- © Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G