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Leber congenital amaurosis 16(LCA16)

MedGen UID:
481692
Concept ID:
C3280062
Disease or Syndrome
Synonyms: KCNJ13-Related Leber Congenital Amaurosis; LCA16
 
Gene (location): KCNJ13 (2q37.1)
 
Monarch Initiative: MONDO:0013613
OMIM®: 614186

Definition

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.

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.

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.

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.

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. [from MedlinePlus Genetics]

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.
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.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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.
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 disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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.
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.

Professional guidelines

PubMed

Aoun M, Passerini I, Chiurazzi P, Karali M, De Rienzo I, Sartor G, Murro V, Filimonova N, Seri M, Banfi S
Int J Mol Sci 2021 Jul 5;22(13) doi: 10.3390/ijms22137207. PMID: 34281261Free PMC Article
Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777
Sumaroka A, Garafalo AV, Semenov EP, Sheplock R, Krishnan AK, Roman AJ, Jacobson SG, Cideciyan AV
Invest Ophthalmol Vis Sci 2019 Jun 3;60(7):2551-2562. doi: 10.1167/iovs.19-27156. PMID: 31212307Free PMC Article

Recent clinical studies

Etiology

Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2023 May 17;24(10) doi: 10.3390/ijms24108915. PMID: 37240262Free PMC Article
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Feb;246:107-121. Epub 2022 Sep 12 doi: 10.1016/j.ajo.2022.09.002. PMID: 36099972Free 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
Bertsch M, Floyd M, Kehoe T, Pfeifer W, Drack AV
Ophthalmic Genet 2017 Jan-Feb;38(1):22-33. doi: 10.1080/13816810.2016.1266667. PMID: 28177849Free PMC Article

Diagnosis

Bommakanti N, Young BK, Sisk RA, Berrocal AM, Duncan JL, Bakall B, Mathias MT, Ahmed I, Chorfi S, Comander J, Nagiel A, Besirli CG
Ophthalmol Retina 2024 Jan;8(1):42-48. Epub 2023 Sep 3 doi: 10.1016/j.oret.2023.08.017. PMID: 37660736Free PMC Article
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S
Int J Mol Sci 2023 May 17;24(10) doi: 10.3390/ijms24108915. PMID: 37240262Free PMC Article
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M
Am J Ophthalmol 2023 Feb;246:107-121. Epub 2022 Sep 12 doi: 10.1016/j.ajo.2022.09.002. PMID: 36099972Free PMC Article
Weiss S, Cohen L, Ben-Yosef T, Ehrenberg M, Goldenberg-Cohen N
Ophthalmic Genet 2019 Feb;40(1):7-11. Epub 2019 Jan 2 doi: 10.1080/13816810.2018.1561900. PMID: 30600744
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

Therapy

Bommakanti N, Young BK, Sisk RA, Berrocal AM, Duncan JL, Bakall B, Mathias MT, Ahmed I, Chorfi S, Comander J, Nagiel A, Besirli CG
Ophthalmol Retina 2024 Jan;8(1):42-48. Epub 2023 Sep 3 doi: 10.1016/j.oret.2023.08.017. PMID: 37660736Free PMC Article
Maurya S, Mary B, Jayandharan GR
Hum Gene Ther 2019 Dec;30(12):1461-1476. Epub 2019 Nov 26 doi: 10.1089/hum.2019.164. PMID: 31642343Free PMC Article
Hirsch ML, Wolf SJ, Samulski RJ
Methods Mol Biol 2016;1382:21-39. doi: 10.1007/978-1-4939-3271-9_2. PMID: 26611576Free PMC Article
Koirala A, Conley SM, Makkia R, Liu Z, Cooper MJ, Sparrow JR, Naash MI
J Control Release 2013 Dec 28;172(3):745-52. Epub 2013 Sep 11 doi: 10.1016/j.jconrel.2013.08.299. PMID: 24035979Free PMC Article
Kumar-Singh R
Vision Res 2008 Jul;48(16):1671-1680. Epub 2008 Jun 18 doi: 10.1016/j.visres.2008.05.005. PMID: 18565565Free PMC Article

Prognosis

Lorenz B, Tavares J, van den Born LI, Marques JP, Scholl HPN; EVICR.net Group
Ophthalmic Res 2021;64(5):740-753. Epub 2021 Mar 8 doi: 10.1159/000515688. PMID: 33684911
Siddiqah IM, Manandhar SP, Cocca SM, Hsueh T, Cervantes V, Gharakhanian E
Curr Genet 2017 Dec;63(6):1053-1072. Epub 2017 May 24 doi: 10.1007/s00294-017-0702-y. PMID: 28540421Free PMC Article
Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF
Ophthalmology 2017 Jun;124(6):884-895. Epub 2017 Mar 21 doi: 10.1016/j.ophtha.2017.01.047. PMID: 28341475
Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y
PLoS One 2012;7(2):e31036. Epub 2012 Feb 17 doi: 10.1371/journal.pone.0031036. PMID: 22363543Free PMC Article
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

Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M
Int J Mol Sci 2023 Sep 11;24(18) doi: 10.3390/ijms241813932. PMID: 37762234Free PMC Article
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
Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T
Doc Ophthalmol 2014 Jun;128(3):219-28. Epub 2014 Apr 22 doi: 10.1007/s10633-014-9436-z. PMID: 24752437
Kumar-Singh R
Vision Res 2008 Jul;48(16):1671-1680. Epub 2008 Jun 18 doi: 10.1016/j.visres.2008.05.005. PMID: 18565565Free PMC Article
Galvin JA, Fishman GA, Stone EM, Koenekoop RK
Ophthalmology 2005 Feb;112(2):349-56. doi: 10.1016/j.ophtha.2004.08.023. PMID: 15691574

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

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