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Retinal dystrophy, early-onset severe

MedGen UID:
387980
•Concept ID:
C1858080
•
Disease or Syndrome
Synonym: Retinal Dystrophy, Early Onset Severe
SNOMED CT: Severe early childhood onset retinal dystrophy (716663009); SECORD - Severe early childhood onset retinal dystrophy (716663009)
 
OMIM®: 248200; 601691

Definition

An inherited retinal dystrophy with manifestation of severe congenital night blindness, progressive retinal dystrophy and nystagmus. Blindness is often complete by the age of 30 years. [from SNOMEDCT_US]

Professional guidelines

PubMed

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M
Br J Ophthalmol 2022 Apr;106(4):445-451. Epub 2021 Mar 12 doi: 10.1136/bjophthalmol-2020-318483. PMID: 33712480Free PMC Article
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
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
Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
Li S, Shen T, Xiao X, Guo X, Zhang Q
Int J Mol Med 2014 Apr;33(4):913-8. Epub 2014 Feb 12 doi: 10.3892/ijmm.2014.1655. PMID: 24535598

Recent clinical studies

Etiology

Foveal Hypoplasia in CRB1-Related Retinopathies.
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
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
Huckfeldt RM, Grigorian F, Place E, Comander JI, Vavvas D, Young LH, Yang P, Shurygina M, Pierce EA, Pennesi ME
Mol Vis 2020;26:423-433. Epub 2020 Jun 3 PMID: 32565670Free PMC Article
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.
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
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT, Bouzia Z, Branham KH, Kumaran N, Vargas ME, Feathers KL, Perera ND, Young K, Khan NW, Heckenlively JR, Webster AR, Pennesi ME, Ali RR, Thompson DA, Michaelides M
Br J Ophthalmol 2019 Dec;103(12):1789-1796. Epub 2019 Apr 12 doi: 10.1136/bjophthalmol-2018-313580. PMID: 30979730Free PMC Article

Diagnosis

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S, Zheng Y, Yi Z, Wang Y, Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Wang P, Zhang Q
Genes (Basel) 2023 Apr 21;14(4) doi: 10.3390/genes14040952. PMID: 37107710Free PMC Article
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M
Br J Ophthalmol 2022 Apr;106(4):445-451. Epub 2021 Mar 12 doi: 10.1136/bjophthalmol-2020-318483. PMID: 33712480Free PMC Article
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
Kumaran N, Moore AT, Weleber RG, Michaelides M
Br J Ophthalmol 2017 Sep;101(9):1147-1154. Epub 2017 Jul 8 doi: 10.1136/bjophthalmol-2016-309975. PMID: 28689169Free PMC Article
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P
Graefes Arch Clin Exp Ophthalmol 2016 Sep;254(9):1833-9. Epub 2016 Apr 25 doi: 10.1007/s00417-016-3358-2. PMID: 27113771

Therapy

Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
Daich Varela M, Cabral de Guimaraes TA, Georgiou M, Michaelides M
Br J Ophthalmol 2022 Apr;106(4):445-451. Epub 2021 Mar 12 doi: 10.1136/bjophthalmol-2020-318483. PMID: 33712480Free PMC Article
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT, Bouzia Z, Branham KH, Kumaran N, Vargas ME, Feathers KL, Perera ND, Young K, Khan NW, Heckenlively JR, Webster AR, Pennesi ME, Ali RR, Thompson DA, Michaelides M
Br J Ophthalmol 2019 Dec;103(12):1789-1796. Epub 2019 Apr 12 doi: 10.1136/bjophthalmol-2018-313580. PMID: 30979730Free PMC Article

Prognosis

Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.
Ellingford JM, Sergouniotis PI, Lennon R, Bhaskar S, Williams SG, Hillman KA, O'Sullivan J, Hall G, Ramsden SC, Lloyd IC, Woolf AS, Black GC
Lancet 2015 May 9;385(9980):1916. doi: 10.1016/S0140-6736(15)60496-2. PMID: 25987160Free PMC Article
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
Kuniyoshi K, Ikeo K, Sakuramoto H, Furuno M, Yoshitake K, Hatsukawa Y, Nakao A, Tsunoda K, Kusaka S, Shimomura Y, Iwata T
Doc Ophthalmol 2015 Feb;130(1):49-55. Epub 2014 Oct 17 doi: 10.1007/s10633-014-9464-8. PMID: 25323024

Clinical prediction guides

Foveal Hypoplasia in CRB1-Related Retinopathies.
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
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S, Zheng Y, Yi Z, Wang Y, Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Wang P, Zhang Q
Genes (Basel) 2023 Apr 21;14(4) doi: 10.3390/genes14040952. PMID: 37107710Free PMC Article
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM
Int J Mol Sci 2021 Jun 15;22(12) doi: 10.3390/ijms22126410. PMID: 34203883Free PMC Article
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N, Georgiou M, Bainbridge JWB, Bertelsen M, Larsen M, Blanco-Kelly F, Ayuso C, Tran HV, Munier FL, Kalitzeos A, Michaelides M
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):47. doi: 10.1167/iovs.61.4.47. PMID: 32347917Free PMC Article
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P
Graefes Arch Clin Exp Ophthalmol 2016 Sep;254(9):1833-9. Epub 2016 Apr 25 doi: 10.1007/s00417-016-3358-2. PMID: 27113771

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