Sensory - Vision Abnormalities

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Congenital rubella syndrome retinopathy
Retinopathy associated with congenital rubella syndrome.[1]

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.

Vision Links: vision | lens | retina | placode | extraocular muscle | cornea | eyelid | vision abnormalities | Student project 1 | Student project 2 | Category:Vision | sensory
Historic Vision 
Historic Embryology: 1906 Eye Embryology | 1907 Development Atlas | 1912 Eye Development | 1912 Nasolacrimal Duct | 1918 Grays Anatomy | 1921 Eye Development | 1922 Optic Primordia | 1925 Iris | 1927 Oculomotor | 1928 Human Retina | 1928 Retina | 1928 Hyaloid Canal | Historic Disclaimer

Some Recent Findings

  • Functional and Molecular Characterization of Rod-like Cells from Retinal Stem Cells Derived from the Adult Ciliary Epithelium[3] "In vitro generation of photoreceptors from stem cells is of great interest for the development of regenerative medicine approaches for patients affected by retinal degeneration and for high throughput drug screens for these diseases. In this study, we show unprecedented high percentages of rod-fated cells from retinal stem cells of the adult ciliary epithelium. Molecular characterization of rod-like cells demonstrates that they lose ciliary epithelial characteristics but acquire photoreceptor features. Rod maturation was evaluated at two levels: gene expression and electrophysiological functionality. Here we present a strong correlation between phototransduction protein expression and functionality of the cells in vitro. We demonstrate that in vitro generated rod-like cells express cGMP-gated channels that are gated by endogenous cGMP. We also identified voltage-gated channels necessary for rod maturation and viability. This level of analysis for the first time provides evidence that adult retinal stem cells can generate highly homogeneous rod-fated cells."
  • Stem cell therapy for retinal disease[4] "Stem cells can now be directed to specific retinal cell fates with high yields and acceptable purity for clinical trials. New stem cell sources have been discovered including induced pluripotent stem cells that can be derived from adult tissues then differentiated into multiple retinal cell types. The initial results of clinical trials of subretinal transplantation of human embryonic stem cell-derived retinal pigment epithelium cells in patients with Stargardt's macular dystrophy and dry age-related macular degeneration showed preliminary safety and possible visual acuity benefits. A phase I trial of intravitreally injected autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy demonstrated no evidence of toxicity with possible visual acuity benefits but no structural or functional changes. Ongoing trials are examining the trophic effects of undifferentiated umbilical cells for the treatment of geographic atrophy in age-related macular degeneration."
  • Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations[5] "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."
More recent papers  
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Search term: Developmental Vision Abnormalities | Congenital Blindness | Anophthalmia | Microphthalmia | Bardet-Biedl Syndrome

Neonatal Vision

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.[6]

Newborn-normal-behaviour.jpg Newborn n 02.jpg
normal behaviour cranial nerves

Links: Movie - Newborn normal behaviour
Anophthalmia and microphthalmia


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).[7] Syndromic microphthalmia-9 can be also 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

Pax6 eye phenotypes.jpg

Phenotypes of wild-type (top) and PAX6 ortholog mutations (bottom) in human, mouse, zebrafish, and fly.[8]

Human mutations may result in aniridia (absence of iris), corneal opacity (aniridia-related keratopathy), cataract (lens clouding), glaucoma, and long-term retinal degeneration.

Links: PAX

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.

Links: rubella virus

Retinopathy of Prematurity

Retinopathy of prematurity in the right eye
Retinopathy of prematurity in the right eye. (Arrows show flat neovascularization)[9]

(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.

USA Statistics

  • 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)

World Statistics


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.[10]

United Kingdom

1988-94 prevalence of anophthalmia and microphthalmia was 1.0 per 10,000 births.[11]

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)

Colour Blindness

Colourblindness red-green
Colour blindness red-green

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: Genetic Abnormalities | 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
Links: GeneReviews | PubMed Health | NIH - Facts About Color Blindness


  1. Jivraj I, Rudnisky CJ, Tambe E, Tipple G & Tennant MT. (2014). Identification of ocular and auditory manifestations of congenital rubella syndrome in mbingo. Int J Telemed Appl , 2014, 981312. PMID: 25525427 DOI.
  2. Verma AS & Fitzpatrick DR. (2007). Anophthalmia and microphthalmia. Orphanet J Rare Dis , 2, 47. PMID: 18039390 DOI.
  3. Demontis GC, Aruta C, Comitato A, De Marzo A & Marigo V. (2012). Functional and molecular characterization of rod-like cells from retinal stem cells derived from the adult ciliary epithelium. PLoS ONE , 7, e33338. PMID: 22432014 DOI.
  4. Tibbetts MD, Samuel MA, Chang TS & Ho AC. (2012). Stem cell therapy for retinal disease. Curr Opin Ophthalmol , 23, 226-34. PMID: 22450217 DOI.
  5. Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH & Slavotinek AM. (2011). Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med. Genet. , 12, 172. PMID: 22204637 DOI.
  6. Birch EE & O'Connor AR. (2001). Preterm birth and visual development. Semin Neonatol , 6, 487-97. PMID: 12014889 DOI.
  7. 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. (2000). Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat. Genet. , 25, 397-401. PMID: 10932181 DOI.
  8. Washington NL, Haendel MA, Mungall CJ, Ashburner M, Westerfield M & Lewis SE. (2009). Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol. , 7, e1000247. PMID: 19956802 DOI.
  9. Gadkari SS, Kulkarni SR, Kamdar RR & Deshpande M. (2015). Successful Surgical Management of Retinopathy of Prematurity Showing Rapid Progression despite Extensive Retinal Photocoagulation. Middle East Afr J Ophthalmol , 22, 393-5. PMID: 26180484 DOI.
  10. Källén B & Tornqvist K. (2005). The epidemiology of anophthalmia and microphthalmia in Sweden. Eur. J. Epidemiol. , 20, 345-50. PMID: 15971507
  11. Busby A, Dolk H, Collin R, Jones RB & Winter R. (1998). Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. Arch. Dis. Child. Fetal Neonatal Ed. , 79, F168-73. PMID: 10194985

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Cite this page: Hill, M.A. (2019, February 19) Embryology Sensory - Vision Abnormalities. Retrieved from

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