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Leber congenital amaurosis 7(LCA7)

MedGen UID:
462542
Concept ID:
C3151192
Disease or Syndrome
Synonyms: CRX-Related Leber Congenital Amaurosis; LCA7; Leber Congenital Amaurosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CRX (19q13.33)
OMIM®: 613829

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

Keratoconus
MedGen UID:
44015
Concept ID:
C0022578
Disease or Syndrome
A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary factors may play a role. The -conus refers to the cone shape of the corneal protrusion. (From Dorland, 27th ed)
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.).
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are. -Blurry vision. -Colors that seem faded. -Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. -Not being able to see well at night. -Double vision . -Frequent prescription changes in your eye wear . Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute.
Pendular nystagmus
MedGen UID:
78770
Concept ID:
C0271388
Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Extinguished electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.

Recent clinical studies

Etiology

Ashtari M, Zhang H, Cook PA, Cyckowski LL, Shindler KS, Marshall KA, Aravand P, Vossough A, Gee JC, Maguire AM, Baker CI, Bennett J
Sci Transl Med 2015 Jul 15;7(296):296ra110. doi: 10.1126/scitranslmed.aaa8791. PMID: 26180100Free PMC Article
Wang H, Wang X, Zou X, Xu S, Li H, Soens ZT, Wang K, Li Y, Dong F, Chen R, Sui R
Invest Ophthalmol Vis Sci 2015 Jun;56(6):3642-55. doi: 10.1167/iovs.14-15972. PMID: 26047050Free PMC Article
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
Zheng Q, Ren Y, Tzekov R, Zhang Y, Chen B, Hou J, Zhao C, Zhu J, Zhang Y, Dai X, Ma S, Li J, Pang J, Qu J, Li W
PLoS One 2012;7(8):e44855. Epub 2012 Aug 31 doi: 10.1371/journal.pone.0044855. PMID: 22953002Free PMC Article
Li L, Xiao X, Li S, Jia X, Wang P, Guo X, Jiao X, Zhang Q, Hejtmancik JF
PLoS One 2011;6(5):e19458. Epub 2011 May 13 doi: 10.1371/journal.pone.0019458. PMID: 21602930Free PMC Article

Diagnosis

Wang H, Wang X, Zou X, Xu S, Li H, Soens ZT, Wang K, Li Y, Dong F, Chen R, Sui R
Invest Ophthalmol Vis Sci 2015 Jun;56(6):3642-55. doi: 10.1167/iovs.14-15972. PMID: 26047050Free PMC Article
Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT
PLoS One 2012;7(3):e32330. Epub 2012 Mar 6 doi: 10.1371/journal.pone.0032330. PMID: 22412862Free PMC Article
Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT
Invest Ophthalmol Vis Sci 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025. PMID: 21310915
Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG
Arch Ophthalmol 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. PMID: 21220633Free PMC Article
Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M
Invest Ophthalmol Vis Sci 2010 May;51(5):2608-14. Epub 2009 Dec 3 doi: 10.1167/iovs.09-3734. [Epub ahead of print] PMID: 19959640Free 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
Perusek L, Maeda T
Nutrients 2013 Jul 12;5(7):2646-66. doi: 10.3390/nu5072646. PMID: 23857173Free PMC Article
Boye SL, Peshenko IV, Huang WC, Min SH, McDoom I, Kay CN, Liu X, Dyka FM, Foster TC, Umino Y, Karan S, Jacobson SG, Baehr W, Dizhoor A, Hauswirth WW, Boye SE
Hum Gene Ther 2013 Feb;24(2):189-202. doi: 10.1089/hum.2012.193. PMID: 23210611Free PMC Article
Zheng Q, Ren Y, Tzekov R, Zhang Y, Chen B, Hou J, Zhao C, Zhu J, Zhang Y, Dai X, Ma S, Li J, Pang J, Qu J, Li W
PLoS One 2012;7(8):e44855. Epub 2012 Aug 31 doi: 10.1371/journal.pone.0044855. PMID: 22953002Free PMC Article
Bennett J, Ashtari M, Wellman J, Marshall KA, Cyckowski LL, Chung DC, McCague S, Pierce EA, Chen Y, Bennicelli JL, Zhu X, Ying GS, Sun J, Wright JF, Auricchio A, Simonelli F, Shindler KS, Mingozzi F, High KA, Maguire AM
Sci Transl Med 2012 Feb 8;4(120):120ra15. doi: 10.1126/scitranslmed.3002865. PMID: 22323828Free PMC Article

Prognosis

Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT
PLoS One 2012;7(3):e32330. Epub 2012 Mar 6 doi: 10.1371/journal.pone.0032330. PMID: 22412862Free PMC Article
Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT
Mol Vis 2011;17:2706-16. Epub 2011 Oct 19 PMID: 22065924Free PMC Article
Galvin JA, Fishman GA, Stone EM, Koenekoop RK
Retina 2005 Oct-Nov;25(7):919-29. PMID: 16205573
Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH
Arch Ophthalmol 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. PMID: 15249368
Curless RG, Flynn JT, Olsen KR, Post MJ
Pediatr Neurol 1991 May-Jun;7(3):223-5. PMID: 1878105

Clinical prediction guides

Pattnaik BR, Shahi PK, Marino MJ, Liu X, York N, Brar S, Chiang J, Pillers DA, Traboulsi EI
Hum Mutat 2015 Jul;36(7):720-7. Epub 2015 May 20 doi: 10.1002/humu.22807. [Epub ahead of print] PMID: 25921210
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM
J Inherit Metab Dis 2015 Jan;38(1):19-40. Epub 2014 Nov 21 doi: 10.1007/s10545-014-9776-6. [Epub ahead of print] PMID: 25413954
Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT
PLoS One 2012;7(3):e32330. Epub 2012 Mar 6 doi: 10.1371/journal.pone.0032330. PMID: 22412862Free PMC Article
Stone EM, Cideciyan AV, Aleman TS, Scheetz TE, Sumaroka A, Ehlinger MA, Schwartz SB, Fishman GA, Traboulsi EI, Lam BL, Fulton AB, Mullins RF, Sheffield VC, Jacobson SG
Arch Ophthalmol 2011 Jan;129(1):81-7. doi: 10.1001/archophthalmol.2010.330. PMID: 21220633Free PMC Article
Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M
Invest Ophthalmol Vis Sci 2010 May;51(5):2608-14. Epub 2009 Dec 3 doi: 10.1167/iovs.09-3734. [Epub ahead of print] PMID: 19959640Free PMC Article

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