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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
 
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

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
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
Xiao X, Sun W, Li S, Jia X, Zhang Q
Mol Vis 2019;25:821-833. Epub 2019 Dec 2 PMID: 31908400Free PMC Article

Recent clinical studies

Etiology

Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M
Am J Ophthalmol 2023 Oct;254:87-103. Epub 2023 Jun 15 doi: 10.1016/j.ajo.2023.05.015. PMID: 37327959
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
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
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
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

Diagnosis

Rodilla C, Martín-Merida I, Blanco-Kelly F, Trujillo-Tiebas MJ, Avila-Fernandez A, Riveiro-Alvarez R, Del Pozo-Valero M, Perea-Romero I, Swafiri ST, Zurita O, Villaverde C, López MÁ, Romero R, Iancu IF, Núñez-Moreno G, Jiménez-Rolando B, Martin-Gutierrez MP, Carreño E, Minguez P, García-Sandoval B, Ayuso C, Corton M
Am J Ophthalmol 2023 Oct;254:87-103. Epub 2023 Jun 15 doi: 10.1016/j.ajo.2023.05.015. PMID: 37327959
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
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166
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
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
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
Patrício MI, Barnard AR, Xue K, MacLaren RE
Expert Opin Biol Ther 2018 Jul;18(7):807-820. Epub 2018 Jun 22 doi: 10.1080/14712598.2018.1484448. PMID: 29932012
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

Prognosis

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
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
Skorczyk-Werner A, Niedziela Z, Stopa M, Krawczyński MR
Orphanet J Rare Dis 2020 Dec 11;15(1):345. doi: 10.1186/s13023-020-01634-y. PMID: 33308271Free PMC Article
Kannabiran C
Ophthalmic Genet 2020 Dec;41(6):513-517. Epub 2020 Aug 17 doi: 10.1080/13816810.2020.1807025. PMID: 32799588
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

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
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
Skorczyk-Werner A, Niedziela Z, Stopa M, Krawczyński MR
Orphanet J Rare Dis 2020 Dec 11;15(1):345. doi: 10.1186/s13023-020-01634-y. PMID: 33308271Free PMC Article
Kannabiran C
Ophthalmic Genet 2020 Dec;41(6):513-517. Epub 2020 Aug 17 doi: 10.1080/13816810.2020.1807025. PMID: 32799588
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166

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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