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Goldmann-Favre syndrome

MedGen UID:
87387
•Concept ID:
C0339541
•
Disease or Syndrome
Synonyms: Favre Hyaloideoretinal Degeneration; Goldmann-Favre Syndrome; Retinoschisis with Early Hemeralopia
SNOMED CT: Goldmann-Favre syndrome (232065000); Enhanced S-cone syndrome (232065000); Retinoschisis with early nyctalopia (232065000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0100289
OMIM®: 268100; 604485
Orphanet: ORPHA53540

Definition

A vitreoretinal dystrophy with characteristics of early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). The onset is usually in childhood. Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. Inherited as an autosomal recessive trait and has a progressive course. [from SNOMEDCT_US]

Professional guidelines

PubMed

Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730

Recent clinical studies

Etiology

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M, Ward N, Moosajee M
Genes (Basel) 2023 Jun 23;14(7) doi: 10.3390/genes14071325. PMID: 37510230Free PMC Article
Recognizable Patterns of Submacular Fibrosis in Enhanced S-Cone Syndrome.
Alsalamah AK, Khan AO, Bakar AA, Schatz P, Nowilaty SR
Ophthalmol Retina 2021 Sep;5(9):918-927. Epub 2021 Apr 2 doi: 10.1016/j.oret.2021.03.014. PMID: 33819700
A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
Manayath GJ, Namburi P, Periasamy S, Kale JA, Narendran V, Ganesh A
Mol Vis 2014;20:724-31. Epub 2014 May 29 PMID: 24891813Free PMC Article
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
Udar N, Small K, Chalukya M, Silva-Garcia R, Marmor M
Mol Vis 2011 Feb 17;17:519-25. PMID: 21364904Free PMC Article
Macular function assessed by microperimetry in patients with enhanced S-cone syndrome.
Sohn EH, Chen FK, Rubin GS, Moore AT, Webster AR, MacLaren RE
Ophthalmology 2010 Jun;117(6):1199-1206.e1. Epub 2010 Feb 19 doi: 10.1016/j.ophtha.2009.10.046. PMID: 20171741

Diagnosis

Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.
Toms M, Ward N, Moosajee M
Genes (Basel) 2023 Jun 23;14(7) doi: 10.3390/genes14071325. PMID: 37510230Free PMC Article
Recognizable Patterns of Submacular Fibrosis in Enhanced S-Cone Syndrome.
Alsalamah AK, Khan AO, Bakar AA, Schatz P, Nowilaty SR
Ophthalmol Retina 2021 Sep;5(9):918-927. Epub 2021 Apr 2 doi: 10.1016/j.oret.2021.03.014. PMID: 33819700
Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).
Tsang SH, Sharma T
Adv Exp Med Biol 2018;1085:153-156. doi: 10.1007/978-3-319-95046-4_28. PMID: 30578501
Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF, Escher P
Hum Mutat 2009 Nov;30(11):1475-85. doi: 10.1002/humu.21096. PMID: 19718767

Therapy

Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade.
Bechet L, Atia R, Zeitz C, Mohand-Saïd S, Sahel JA, Barale PO, Audo I
Ophthalmic Genet 2021 Oct;42(5):615-618. Epub 2021 May 10 doi: 10.1080/13816810.2021.1925927. PMID: 33970758
Bilateral giant macular schisis in a case of Goldmann-Favre syndrome.
Chawla R, Banerjee M
BMJ Case Rep 2019 Sep 26;12(9) doi: 10.1136/bcr-2019-230351. PMID: 31558488Free PMC Article
Treatment of cystic macular lesions in hereditary retinal dystrophies.
Salvatore S, Fishman GA, Genead MA
Surv Ophthalmol 2013 Nov-Dec;58(6):560-84. doi: 10.1016/j.survophthal.2012.11.006. PMID: 24160730

Prognosis

New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y
Jpn J Ophthalmol 2016 Nov;60(6):476-485. Epub 2016 Aug 13 doi: 10.1007/s10384-016-0470-0. PMID: 27522502
Phenotypic features of patients with NR2E3 mutations.
Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA
Arch Ophthalmol 2009 Jan;127(1):71-5. doi: 10.1001/archophthalmol.2008.534. PMID: 19139342

Clinical prediction guides

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Al-Khuzaei S, Broadgate S, Halford S, Jolly JK, Shanks M, Clouston P, Downes SM
Genes (Basel) 2020 Oct 29;11(11) doi: 10.3390/genes11111288. PMID: 33138239Free PMC Article
A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
Manayath GJ, Namburi P, Periasamy S, Kale JA, Narendran V, Ganesh A
Mol Vis 2014;20:724-31. Epub 2014 May 29 PMID: 24891813Free PMC Article
Retinal pathology of a patient with Goldmann-Favre syndrome.
Bonilha VL, Fishman GA, Rayborn ME, Hollyfield JG
Ophthalmic Genet 2009 Dec;30(4):172-80. doi: 10.3109/13816810903176765. PMID: 19852574Free PMC Article
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).
Schorderet DF, Escher P
Hum Mutat 2009 Nov;30(11):1475-85. doi: 10.1002/humu.21096. PMID: 19718767
Goldmann-Favre syndrome in a four-year-old-girl.
Izumi K, Matsuhashi M
Doc Ophthalmol 1987 Jun;66(3):219-26. doi: 10.1007/BF00145235. PMID: 3428076

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