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Leber congenital amaurosis 14(LCA14)

MedGen UID:
442375
Concept ID:
C2750063
Disease or Syndrome
Synonyms: LCA14; LRAT-Related Leber Congenital Amaurosis
 
Gene (location): LRAT (4q32.1)
 
Monarch Initiative: MONDO:0013231
OMIM®: 613341

Definition

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. [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.
Falls
MedGen UID:
39084
Concept ID:
C0085639
Finding
A sudden movement downward, usually resulting in injury.
Pallor
MedGen UID:
10547
Concept ID:
C0030232
Finding
Abnormally pale skin.
Congenital blindness
MedGen UID:
2288
Concept ID:
C0005754
Congenital Abnormality
Blindness with onset at birth.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Decreased light- and dark-adapted electroretinogram amplitude
MedGen UID:
326793
Concept ID:
C1839025
Finding
Descreased amplitude of eletrical response upon electroretinography.
Undetectable electroretinogram
MedGen UID:
383742
Concept ID:
C1855685
Finding
Lack of any response to stimulation upon electroretinography.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Professional guidelines

PubMed

Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG
Graefes Arch Clin Exp Ophthalmol 2022 May;260(5):1543-1550. Epub 2022 Jan 10 doi: 10.1007/s00417-021-05508-2. PMID: 35001204Free PMC Article
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Yi Z, Xiao X, Li S, Sun W, Zhang Q
Exp Eye Res 2019 Dec;189:107846. Epub 2019 Oct 15 doi: 10.1016/j.exer.2019.107846. PMID: 31626798

Recent clinical studies

Etiology

Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF
Ophthalmol Retina 2022 Aug;6(8):711-722. Epub 2022 Mar 18 doi: 10.1016/j.oret.2022.03.008. PMID: 35314386
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
Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free 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
Alkharashi M, Fulton AB
Semin Ophthalmol 2017;32(1):14-21. Epub 2016 Sep 29 doi: 10.1080/08820538.2016.1228383. PMID: 27686653

Diagnosis

Hahn LC, Georgiou M, Almushattat H, van Schooneveld MJ, de Carvalho ER, Wesseling NL, Ten Brink JB, Florijn RJ, Lissenberg-Witte BI, Strubbe I, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Mukherjee R, McKibbin M, Meester-Smoor MA, Thiadens AAHJ, Al-Khuzaei S, Akyol E, Lotery AJ, van Genderen MM, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, Klaver CCW, Downes SM, Bergen AA, Leroy BP, Michaelides M, Boon CJF
Ophthalmol Retina 2022 Aug;6(8):711-722. Epub 2022 Mar 18 doi: 10.1016/j.oret.2022.03.008. PMID: 35314386
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
Sato S, Morimoto T, Tanaka S, Hotta K, Fujikado T, Tsujikawa M, Nishida K
BMC Ophthalmol 2020 Jul 31;20(1):313. doi: 10.1186/s12886-020-01577-9. PMID: 32736544Free PMC Article
Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free PMC Article
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article

Therapy

Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG
Graefes Arch Clin Exp Ophthalmol 2022 May;260(5):1543-1550. Epub 2022 Jan 10 doi: 10.1007/s00417-021-05508-2. PMID: 35001204Free PMC Article
Wang X, Yu C, Tzekov RT, Zhu Y, Li W
Orphanet J Rare Dis 2020 Feb 14;15(1):49. doi: 10.1186/s13023-020-1304-1. PMID: 32059734Free 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. PMID: 25030840
Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Surace EM, Sun J, Acerra C, Wright JF, Wellman J, High KA, Auricchio A, Bennett J, Simonelli F
Ophthalmology 2013 Jun;120(6):1283-91. Epub 2013 Mar 6 doi: 10.1016/j.ophtha.2012.11.048. PMID: 23474247Free PMC Article
Ashtari M, Cyckowski LL, Monroe JF, Marshall KA, Chung DC, Auricchio A, Simonelli F, Leroy BP, Maguire AM, Shindler KS, Bennett J
J Clin Invest 2011 Jun;121(6):2160-8. Epub 2011 May 23 doi: 10.1172/JCI57377. PMID: 21606598Free PMC Article

Prognosis

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Kannabiran C
Ophthalmic Genet 2020 Dec;41(6):513-517. Epub 2020 Aug 17 doi: 10.1080/13816810.2020.1807025. PMID: 32799588
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA
JAMA Ophthalmol 2013 Feb;131(2):178-82. doi: 10.1001/2013.jamaophthalmol.354. PMID: 23411883Free PMC Article
McKibbin M, Ali M, Mohamed MD, Booth AP, Bishop F, Pal B, Springell K, Raashid Y, Jafri H, Inglehearn CF
Arch Ophthalmol 2010 Jan;128(1):107-13. doi: 10.1001/archophthalmol.2010.309. PMID: 20065226

Clinical prediction guides

Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article
Kannabiran C
Ophthalmic Genet 2020 Dec;41(6):513-517. Epub 2020 Aug 17 doi: 10.1080/13816810.2020.1807025. PMID: 32799588
Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L
Sci Rep 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. PMID: 32641690Free PMC Article
Uyhazi KE, Aravand P, Bell BA, Wei Z, Leo L, Serrano LW, Pearson DJ, Shpylchak I, Pham J, Vasireddy V, Bennett J, Aleman TS
Invest Ophthalmol Vis Sci 2020 May 11;61(5):30. doi: 10.1167/iovs.61.5.30. PMID: 32428231Free PMC Article
Wang S, Zhang Q, Zhang X, Wang Z, Zhao P
Graefes Arch Clin Exp Ophthalmol 2016 Nov;254(11):2227-2238. Epub 2016 Jul 16 doi: 10.1007/s00417-016-3428-5. PMID: 27422788

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
Wang X, Yu C, Tzekov RT, Zhu Y, Li W
Orphanet J Rare Dis 2020 Feb 14;15(1):49. doi: 10.1186/s13023-020-1304-1. PMID: 32059734Free PMC Article

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