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Congenital blindness

MedGen UID:
2288
Concept ID:
C0005754
Congenital Abnormality
Synonym: Congenital amaurosis
SNOMED CT: Congenital blindness (95486002)
 
HPO: HP:0007875

Definition

Blindness with onset at birth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Congenital blindness

Conditions with this feature

Osteoporosis with pseudoglioma
MedGen UID:
98480
Concept ID:
C0432252
Disease or Syndrome
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).\n\nMost affected individuals have impaired vision at birth or by early infancy and are blind by young adulthood. Vision problems are usually caused by one of several eye conditions, grouped together as pseudoglioma, that affect the light-sensitive tissue at the back of the eye (the retina), although other eye conditions have been identified in affected individuals. Pseudogliomas are so named because, on examination, the conditions resemble an eye tumor known as a retinal glioma.\n\nRarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.
AICA-ribosiduria
MedGen UID:
332474
Concept ID:
C1837530
Disease or Syndrome
AICA-ribosiduria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis (Ramond et al., 2020).
Senior-loken syndrome 3
MedGen UID:
335569
Concept ID:
C1846980
Disease or Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.\n\nNephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively.\n\nLeber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
Leber congenital amaurosis 12
MedGen UID:
347535
Concept ID:
C1857743
Disease or Syndrome
Leber congenital amaurosis-12 (LCA12) is characterized by congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit from birth, early onset and long-lasting digitoocular signs of Franceschetti, and mild to moderate hyperopia. Photoaversion is usually present. Visual acuity, when measurable, is reduced to counting fingers, hand movements, or light perception (summary by Perrault et al., 2013).
Joubert syndrome 5
MedGen UID:
347545
Concept ID:
C1857780
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Leber congenital amaurosis 14
MedGen UID:
442375
Concept ID:
C2750063
Disease or Syndrome
Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.

Professional guidelines

PubMed

Kondkar AA, Abu-Amero KK
Exp Eye Res 2019 Dec;189:107834. Epub 2019 Oct 19 doi: 10.1016/j.exer.2019.107834. PMID: 31639339
Papadopoulos I, Bountouvi E, Attilakos A, Gole E, Dinopoulos A, Peppa M, Nikolaidou P, Papadopoulou A
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Gene Ther 2011 Feb;18(2):117-27. Epub 2010 Oct 21 doi: 10.1038/gt.2010.138. PMID: 20962871

Recent clinical studies

Etiology

Sen S, Khalsa NN, Tong N, Ovadia-Caro S, Wang X, Bi Y, Striem-Amit E
J Neurosci 2022 Jun 22;42(25):5070-5084. Epub 2022 May 19 doi: 10.1523/JNEUROSCI.1700-21.2022. PMID: 35589393Free PMC Article
Guerreiro MJS, Linke M, Lingareddy S, Kekunnaya R, Röder B
Sci Rep 2021 Jun 14;11(1):12433. doi: 10.1038/s41598-021-91976-9. PMID: 34127748Free PMC Article
Röder B, Kekunnaya R
Curr Opin Neurobiol 2021 Apr;67:155-162. Epub 2020 Dec 16 doi: 10.1016/j.conb.2020.11.011. PMID: 33340877
Lubetzky AV, Gospodarek M, Arie L, Kelly J, Roginska A, Cosetti M
JAMA Otolaryngol Head Neck Surg 2020 May 1;146(5):480-487. doi: 10.1001/jamaoto.2020.0032. PMID: 32163114
Gagnon L, Ismaili AR, Ptito M, Kupers R
PLoS One 2015;10(3):e0122567. Epub 2015 Mar 30 doi: 10.1371/journal.pone.0122567. PMID: 25822780Free PMC Article

Diagnosis

Huang L, Zhang L, Li X, Lu J, Sun L, Chen L, Ding X, Li Z
Mol Vis 2022;28:29-38. Epub 2022 Mar 25 PMID: 35656167Free PMC Article
Röder B, Kekunnaya R
Curr Opin Neurobiol 2021 Apr;67:155-162. Epub 2020 Dec 16 doi: 10.1016/j.conb.2020.11.011. PMID: 33340877
Burciaga-Flores M, Reyes-Galeana M, Camacho-Villegas TA, Gutiérrez-Ortega A, Elizondo-Quiroga DE
Rev Invest Clin 2020 Dec 22;72(6):344-352. doi: 10.24875/RIC.20000160. PMID: 33053568
Mirochnik RM, Pezaris JS
Mil Med Res 2019 Jun 5;6(1):19. doi: 10.1186/s40779-019-0206-9. PMID: 31167653Free PMC Article
Gagnon L, Kupers R, Ptito M
Chem Senses 2013 Jul;38(6):509-17. Epub 2013 May 10 doi: 10.1093/chemse/bjt021. PMID: 23667250

Therapy

Karakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F
Am J Med Genet A 2022 Jul;188(7):2061-2070. Epub 2022 Apr 8 doi: 10.1002/ajmg.a.62742. PMID: 35393770
Sahu B, Chug I, Khanna H
Biomolecules 2021 Aug 1;11(8) doi: 10.3390/biom11081135. PMID: 34439800Free PMC Article
Mirochnik RM, Pezaris JS
Mil Med Res 2019 Jun 5;6(1):19. doi: 10.1186/s40779-019-0206-9. PMID: 31167653Free PMC Article
AlSalloum A, El Mouzan MI, AlHerbish A, AlOmer A, Qurashi M
Ann Saudi Med 2015 Mar-Apr;35(2):107-10. doi: 10.5144/0256-4947.2015.107. PMID: 26336015Free PMC Article
Chen ZY, Denney RM, Breakefield XO
Hum Mol Genet 1995;4 Spec No:1729-37. doi: 10.1093/hmg/4.suppl_1.1729. PMID: 8541872

Prognosis

Piller S, Senna I, Wiebusch D, Ben-Zion I, Ernst MO
Curr Biol 2023 May 22;33(10):2104-2110.e4. Epub 2023 May 1 doi: 10.1016/j.cub.2023.04.017. PMID: 37130520
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M
JCI Insight 2022 Feb 8;7(3) doi: 10.1172/jci.insight.148586. PMID: 35132964Free PMC Article
Chebat DR, Schneider FC, Ptito M
Sci Rep 2020 Jan 16;10(1):495. doi: 10.1038/s41598-019-57217-w. PMID: 31949207Free PMC Article
Borchert M
J Neuroophthalmol 2012 Mar;32(1):58-67. doi: 10.1097/WNO.0b013e31824442b8. PMID: 22330852
Allocca M, Tessitore A, Cotugno G, Auricchio A
Expert Opin Biol Ther 2006 Dec;6(12):1279-94. doi: 10.1517/14712598.6.12.1279. PMID: 17223737

Clinical prediction guides

Piller S, Senna I, Wiebusch D, Ben-Zion I, Ernst MO
Curr Biol 2023 May 22;33(10):2104-2110.e4. Epub 2023 May 1 doi: 10.1016/j.cub.2023.04.017. PMID: 37130520
Marins TF, Russo M, Rodrigues EC, Monteiro M, Moll J, Felix D, Bouzas J, Arcanjo H, Vargas CD, Tovar-Moll F
Hum Brain Mapp 2023 Apr 1;44(5):2039-2049. Epub 2023 Jan 20 doi: 10.1002/hbm.26192. PMID: 36661404Free PMC Article
Lubetzky AV, Gospodarek M, Arie L, Kelly J, Roginska A, Cosetti M
JAMA Otolaryngol Head Neck Surg 2020 May 1;146(5):480-487. doi: 10.1001/jamaoto.2020.0032. PMID: 32163114
Abboud S, Maidenbaum S, Dehaene S, Amedi A
Nat Commun 2015 Jan 23;6:6026. doi: 10.1038/ncomms7026. PMID: 25613599Free PMC Article
Gagnon L, Kupers R, Ptito M
Chem Senses 2013 Jul;38(6):509-17. Epub 2013 May 10 doi: 10.1093/chemse/bjt021. PMID: 23667250

Recent systematic reviews

Parreira RB, Grecco LAC, Oliveira CS
Gait Posture 2017 Sep;57:161-167. Epub 2017 Jun 12 doi: 10.1016/j.gaitpost.2017.06.008. PMID: 28641161

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