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Leber congenital amaurosis 11(LCA11)

MedGen UID:
326698
Concept ID:
C1840284
Disease or Syndrome
Synonyms: Amaurosis congenita of Leber, type 11; IMPDH1-Related Leber Congenital Amaurosis; LCA11; Leber congenital amaurosis type 11
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: IMPDH1
Cytogenetic location: 7q32.1
OMIM®: 613837

Definition

Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus. A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Researchers suspect that this behavior may contribute to deep-set eyes and keratoconus in affected children. In rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. However, researchers are uncertain whether these individuals actually have Leber congenital amaurosis or another syndrome with similar signs and symptoms. At least 13 types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
[from GHR]

Clinical features

Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding

Recent clinical studies

Etiology

Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA
Lancet 2014 Oct 25;384(9953):1513-20. Epub 2014 Jul 13 doi: 10.1016/S0140-6736(14)60153-7. [Epub ahead of print] PMID: 25030840
Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ
Br J Ophthalmol 2014 Dec;98(12):1724-8. Epub 2014 Jul 4 doi: 10.1136/bjophthalmol-2014-305122. [Epub ahead of print] PMID: 24997176
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK
Hum Mutat 2013 Nov;34(11):1537-46. Epub 2013 Sep 17 doi: 10.1002/humu.22398. [Epub ahead of print] PMID: 23946133Free PMC Article
Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG
Invest Ophthalmol Vis Sci 2013 Feb 15;54(2):1378-83. doi: 10.1167/iovs.12-11341. PMID: 23341016Free PMC Article
Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW
Arch Ophthalmol 2012 Jan;130(1):9-24. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.298. [Epub ahead of print] PMID: 21911650Free PMC Article

Diagnosis

Ripamonti C, Henning GB, Ali RR, Bainbridge JW, Robbie SJ, Sundaram V, Luong VA, van den Born LI, Casteels I, de Ravel TJ, Moore AT, Stockman A
Invest Ophthalmol Vis Sci 2014 Sep 25;55(10):6817-28. doi: 10.1167/iovs.14-14923. PMID: 25257057
Khan AO, Al-Mesfer S, Al-Turkmani S, Bergmann C, Bolz HJ
Br J Ophthalmol 2014 Dec;98(12):1724-8. Epub 2014 Jul 4 doi: 10.1136/bjophthalmol-2014-305122. [Epub ahead of print] PMID: 24997176
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK
Hum Mutat 2013 Nov;34(11):1537-46. Epub 2013 Sep 17 doi: 10.1002/humu.22398. [Epub ahead of print] PMID: 23946133Free PMC Article
Xu F, Dong Q, Liu L, Li H, Liang X, Jiang R, Sui R, Dong F
Mol Vis 2012;18:744-50. Epub 2012 Mar 28 PMID: 22509104Free PMC Article
Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW
Arch Ophthalmol 2012 Jan;130(1):9-24. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.298. [Epub ahead of print] PMID: 21911650Free PMC Article

Therapy

Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA
Lancet 2014 Oct 25;384(9953):1513-20. Epub 2014 Jul 13 doi: 10.1016/S0140-6736(14)60153-7. [Epub ahead of print] PMID: 25030840
Melillo P, Pecchia L, Testa F, Rossi S, Bennett J, Simonelli F
Biomed Eng Online 2012 Jul 19;11:40. doi: 10.1186/1475-925X-11-40. [Epub ahead of print] PMID: 22812667Free PMC Article
Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW
Arch Ophthalmol 2012 Jan;130(1):9-24. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.298. [Epub ahead of print] PMID: 21911650Free PMC Article
Stein L, Roy K, Lei L, Kaushal S
Expert Opin Biol Ther 2011 Mar;11(3):429-39. doi: 10.1517/14712598.2011.557358. PMID: 21299439
Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J
Lancet 2009 Nov 7;374(9701):1597-605. Epub 2009 Oct 23 doi: 10.1016/S0140-6736(09)61836-5. [Epub ahead of print] PMID: 19854499

Prognosis

Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW
Arch Ophthalmol 2012 Jan;130(1):9-24. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.298. [Epub ahead of print] PMID: 21911650Free PMC Article
Zhang T, Zhang N, Baehr W, Fu Y
Proc Natl Acad Sci U S A 2011 May 24;108(21):8879-84. Epub 2011 May 9 doi: 10.1073/pnas.1017127108. [Epub ahead of print] PMID: 21555576Free PMC Article
Galvin JA, Fishman GA, Stone EM, Koenekoop RK
Retina 2005 Oct-Nov;25(7):919-29. PMID: 16205573
Koenekoop RK, Loyer M, Dembinska O, Beneish R
Ophthalmic Genet 2002 Mar;23(1):49-59. PMID: 11910559
Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH
Ophthalmic Genet 2000 Sep;21(3):135-50. PMID: 11035546

Clinical prediction guides

Ripamonti C, Henning GB, Ali RR, Bainbridge JW, Robbie SJ, Sundaram V, Luong VA, van den Born LI, Casteels I, de Ravel TJ, Moore AT, Stockman A
Invest Ophthalmol Vis Sci 2014 Sep 25;55(10):6817-28. doi: 10.1167/iovs.14-14923. PMID: 25257057
Ko AC, Hernández J, Brinton JP, Faidley EA, Mugge SA, Mets MB, Kardon RH, Folk JC, Mullins RF, Stone EM
Arch Ophthalmol 2010 Dec;128(12):1590-5. doi: 10.1001/archophthalmol.2010.295. PMID: 21149784Free PMC Article
Galvin JA, Fishman GA, Stone EM, Koenekoop RK
Retina 2005 Oct-Nov;25(7):919-29. PMID: 16205573
Fazzi E, Signorini SG, Uggetti C, Bianchi PE, Lanners J, Lanzi G
Am J Med Genet A 2005 Jan 1;132A(1):13-9. doi: 10.1002/ajmg.a.30301. PMID: 15580639
Koenekoop RK, Loyer M, Dembinska O, Beneish R
Ophthalmic Genet 2002 Mar;23(1):49-59. PMID: 11910559

Recent systematic reviews

Stein L, Roy K, Lei L, Kaushal S
Expert Opin Biol Ther 2011 Mar;11(3):429-39. doi: 10.1517/14712598.2011.557358. PMID: 21299439

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