U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Leber congenital amaurosis 7(LCA7)

MedGen UID:
462542
Concept ID:
C3151192
Disease or Syndrome
Synonyms: CRX-Related Leber Congenital Amaurosis; LCA7
 
Gene (location): CRX (19q13.33)
 
Monarch Initiative: MONDO:0013449
OMIM®: 613829

Definition

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. [from OMIM]

Additional description

From MedlinePlus Genetics
At least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.

In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.

A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.

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.

Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition 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 at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.  https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Keratoconus
MedGen UID:
44015
Concept ID:
C0022578
Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
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.
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Professional guidelines

PubMed

Leinonen H, Zhang J, Occelli LM, Seemab U, Choi EH, L P Marinho LF, Querubin J, Kolesnikov AV, Galinska A, Kordecka K, Hoang T, Lewandowski D, Lee TT, Einstein EE, Einstein DE, Dong Z, Kiser PD, Blackshaw S, Kefalov VJ, Tabaka M, Foik A, Petersen-Jones SM, Palczewski K
Nat Commun 2024 Jul 15;15(1):5943. doi: 10.1038/s41467-024-50033-5. PMID: 39009597Free PMC Article
Perusek L, Maeda T
Nutrients 2013 Jul 12;5(7):2646-66. doi: 10.3390/nu5072646. PMID: 23857173Free PMC Article
Galvin JA, Fishman GA, Stone EM, Koenekoop RK
Retina 2005 Oct-Nov;25(7):919-29. doi: 10.1097/00006982-200510000-00016. PMID: 16205573

Recent clinical studies

Etiology

Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV
Int J Mol Sci 2021 Feb 18;22(4) doi: 10.3390/ijms22042031. PMID: 33670772Free PMC Article
Xu K, Xie Y, Sun T, Zhang X, Chen C, Li Y
Br J Ophthalmol 2020 Jul;104(7):932-937. Epub 2019 Oct 19 doi: 10.1136/bjophthalmol-2019-314281. PMID: 31630094
Xiao X, Sun W, Li S, Jia X, Zhang Q
Mol Vis 2019;25:821-833. Epub 2019 Dec 2 PMID: 31908400Free PMC Article
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Diagnosis

Kay C, Audo I, Naujoks C, Spera C, Fischer MD, Green J, Durham T, Williamson N, Bradley H, Barclay M, Sims J, Banhazi J, Patalano F
J Patient Rep Outcomes 2023 Jul 19;7(1):74. doi: 10.1186/s41687-023-00610-x. PMID: 37466759Free PMC Article
Georgiou M, Fujinami K, Michaelides M
Clin Exp Ophthalmol 2021 Apr;49(3):270-288. Epub 2021 Mar 20 doi: 10.1111/ceo.13917. PMID: 33686777
Li S, Gordon WC, Bazan NG, Jin M
Proc Natl Acad Sci U S A 2020 Dec 15;117(50):32114-32123. Epub 2020 Nov 30 doi: 10.1073/pnas.2012623117. PMID: 33257550Free PMC Article
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R
Retina 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. PMID: 30134391
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

Therapy

Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Wu V, Swider M, Sheplock R, Krishnan AK, Garafalo AV
Int J Mol Sci 2021 Feb 18;22(4) doi: 10.3390/ijms22042031. PMID: 33670772Free PMC Article
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, Webster AR, Moore AT, Michaelides M
Ophthalmology 2018 Jun;125(6):894-903. Epub 2018 Feb 3 doi: 10.1016/j.ophtha.2017.12.013. PMID: 29398085Free PMC Article
Perusek L, Maeda T
Nutrients 2013 Jul 12;5(7):2646-66. doi: 10.3390/nu5072646. PMID: 23857173Free PMC Article
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800

Prognosis

Rhiu S, Chang JH, Park TK, Lee YW, Lee JB, Youn I, Han SY
Jpn J Ophthalmol 2024 May;68(3):243-249. Epub 2024 Apr 3 doi: 10.1007/s10384-024-01058-2. PMID: 38568447
Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, Webster AR, Moore AT, Michaelides M
Ophthalmology 2018 Jun;125(6):894-903. Epub 2018 Feb 3 doi: 10.1016/j.ophtha.2017.12.013. PMID: 29398085Free PMC Article
Brecelj J, Stirn-Kranjc B
Eye (Lond) 1999;13 ( Pt 1):47-54. doi: 10.1038/eye.1999.10. PMID: 10396384
Ferrucci S, Anderson SF, Townsend JC
Optom Vis Sci 1998 Aug;75(8):560-70. doi: 10.1097/00006324-199808000-00021. PMID: 9734800
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF
Ophthalmology 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. PMID: 9663233

Clinical prediction guides

Kanzaki Y, Fujita H, Sato K, Hosokawa M, Matsumae H, Morizane Y, Ohuchi H
Invest Ophthalmol Vis Sci 2022 Nov 1;63(12):29. doi: 10.1167/iovs.63.12.29. PMID: 36413373Free PMC Article
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R
Retina 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. PMID: 30134391
Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, Hauswirth WW, Chulay JD, Stout JT
Ophthalmology 2016 Jul;123(7):1606-20. Epub 2016 Apr 19 doi: 10.1016/j.ophtha.2016.03.003. PMID: 27102010
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

Recent systematic reviews

Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD
Adv Ther 2022 Mar;39(3):1179-1198. Epub 2022 Jan 30 doi: 10.1007/s12325-021-02036-7. PMID: 35098484Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...