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Leber congenital amaurosis 13(LCA13)

MedGen UID:
382544
Concept ID:
C2675186
Disease or Syndrome
Synonyms: LCA13; RDH12-Related Leber Congenital Amaurosis
 
Gene (location): RDH12 (14q24.1)
 
Monarch Initiative: MONDO:0012990
OMIM®: 612712

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
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.
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.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding

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
Chung DC, Traboulsi EI
J AAPOS 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. PMID: 20006823

Recent clinical studies

Etiology

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
Gange WS, Sisk RA, Besirli CG, Lee TC, Havunjian M, Schwartz H, Borchert M, Sengillo JD, Mendoza C, Berrocal AM, Nagiel A
Ophthalmol Retina 2022 Jan;6(1):58-64. Epub 2021 Apr 8 doi: 10.1016/j.oret.2021.03.016. PMID: 33838313Free PMC Article
Thanitcul C, Varadaraj V, Canner JK, Woreta FA, Soiberman US, Srikumaran D
Am J Ophthalmol 2021 Nov;231:11-18. Epub 2021 May 26 doi: 10.1016/j.ajo.2021.05.013. PMID: 34048803
Chung DC, Traboulsi EI
J AAPOS 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. PMID: 20006823
Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J
N Engl J Med 2008 May 22;358(21):2240-8. Epub 2008 Apr 27 doi: 10.1056/NEJMoa0802315. PMID: 18441370Free PMC Article

Diagnosis

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
Gange WS, Sisk RA, Besirli CG, Lee TC, Havunjian M, Schwartz H, Borchert M, Sengillo JD, Mendoza C, Berrocal AM, Nagiel A
Ophthalmol Retina 2022 Jan;6(1):58-64. Epub 2021 Apr 8 doi: 10.1016/j.oret.2021.03.016. PMID: 33838313Free 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
Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R
Acta Ophthalmol 2020 May;98(3):286-295. Epub 2019 Aug 19 doi: 10.1111/aos.14218. PMID: 31429209
Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G
Eur J Paediatr Neurol 2003;7(1):13-22. doi: 10.1016/s1090-3798(02)00135-6. PMID: 12615170

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
Wu S, Yuan Z, Sun Z, Yao F, Sui R
Am J Med Genet A 2022 Mar;188(3):948-952. Epub 2021 Nov 25 doi: 10.1002/ajmg.a.62582. PMID: 34821467
Kumaran N, Michaelides M, Smith AJ, Ali RR, Bainbridge JWB
Br Med Bull 2018 Jun 1;126(1):13-25. doi: 10.1093/bmb/ldy005. PMID: 29506236
Chung DC, Traboulsi EI
J AAPOS 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. PMID: 20006823
Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J
N Engl J Med 2008 May 22;358(21):2240-8. Epub 2008 Apr 27 doi: 10.1056/NEJMoa0802315. PMID: 18441370Free PMC Article

Prognosis

Miraldi Utz V, Ebert JJ, Brightman DS, Simpson BN, Benoit S, Sisk RA
Ophthalmic Genet 2023 Feb;44(1):89-92. Epub 2022 Nov 25 doi: 10.1080/13816810.2022.2090011. PMID: 36426739
Thanitcul C, Varadaraj V, Canner JK, Woreta FA, Soiberman US, Srikumaran D
Am J Ophthalmol 2021 Nov;231:11-18. Epub 2021 May 26 doi: 10.1016/j.ajo.2021.05.013. PMID: 34048803
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
Kumaran N, Rubin GS, Kalitzeos A, Fujinami K, Bainbridge JWB, Weleber RG, Michaelides M
Invest Ophthalmol Vis Sci 2018 Jul 2;59(8):3330-3339. doi: 10.1167/iovs.18-23873. PMID: 30025081Free PMC Article
Chung DC, Traboulsi EI
J AAPOS 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. PMID: 20006823

Clinical prediction guides

Hernandez CC, Gimenez LE, Dahir NS, Peisley A, Cone RD
Am J Physiol Cell Physiol 2023 Mar 1;324(3):C694-C706. Epub 2023 Jan 30 doi: 10.1152/ajpcell.00335.2022. PMID: 36717105Free PMC Article
Thanitcul C, Varadaraj V, Canner JK, Woreta FA, Soiberman US, Srikumaran D
Am J Ophthalmol 2021 Nov;231:11-18. Epub 2021 May 26 doi: 10.1016/j.ajo.2021.05.013. PMID: 34048803
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
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
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

Recent systematic reviews

Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096Free PMC Article
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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