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Chorioretinal lacunae

MedGen UID:
375497
Concept ID:
C1844751
Finding
Synonym: Lacunar retinal depigmentation
 
HPO: HP:0007858

Definition

Punched out lesions in the pigmented layer of the retina. [from HPO]

Term Hierarchy

Conditions with this feature

Aicardi syndrome
MedGen UID:
61236
Concept ID:
C0175713
Disease or Syndrome
Aicardi syndrome is a neurodevelopmental disorder that affects primarily females. Initially it was characterized by a typical triad of agenesis of the corpus callosum, central chorioretinal lacunae, and infantile spasms. As more affected individuals have been ascertained, it has become clear that not all affected girls have all three features of the classic triad and that other neurologic and systemic defects are common, including other brain malformations, optic nerve abnormalities, other seizure types, intellectual disability of varying severity, and scoliosis.
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MedGen UID:
320559
Concept ID:
C1835265
Disease or Syndrome
Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, 133780). Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016). Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see 251270). See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and impaired intellectual development; 268050).
Neuromuscular disease and ocular or auditory anomalies with or without seizures
MedGen UID:
1684689
Concept ID:
C5231483
Disease or Syndrome

Recent clinical studies

Etiology

Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P; Aicardi Syndrome International Study Group
Neurology 2021 Mar 2;96(9):e1319-e1333. Epub 2020 Dec 4 doi: 10.1212/WNL.0000000000011237. PMID: 33277420Free PMC Article
Masnada S, Gibelli D, Dolci C, De Giorgis V, Cappella A, Veggiotti P, Sforza C; Italian Aicardi Study Group
Am J Med Genet A 2020 Oct;182(10):2325-2332. Epub 2020 Aug 15 doi: 10.1002/ajmg.a.61791. PMID: 32798292
Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA
J AAPOS 2012 Jun;16(3):238-41. doi: 10.1016/j.jaapos.2012.01.008. PMID: 22681940Free PMC Article
Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G
Am J Med Genet A 2008 Nov 15;146A(22):2871-8. doi: 10.1002/ajmg.a.32537. PMID: 18925666Free PMC Article
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201

Diagnosis

Tuft M, Østby Y, Nakken KO, Lund C
Epilepsy Behav 2017 Aug;73:161-165. Epub 2017 Jul 18 doi: 10.1016/j.yebeh.2017.05.002. PMID: 28641168
Hergan B, Atar OD, Poretti A, Huisman TA
Neuroradiol J 2013 Aug;26(4):380-4. Epub 2013 Aug 27 doi: 10.1177/197140091302600403. PMID: 24007726Free PMC Article
Singh P, Goraya JS, Saggar K, Ahluwalia A
Singapore Med J 2012 Jul;53(7):e153-5. PMID: 22815034
Rosser T
Arch Neurol 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. PMID: 14568821
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201

Therapy

Grigoriou E, DeSabato JJ, Colo D, Dormans JP
J Pediatr Orthop 2015 Jul-Aug;35(5):e38-42. doi: 10.1097/BPO.0000000000000368. PMID: 25494028
Terakawa Y, Miwa T, Mizuno Y, Ichinohe T, Kaneko Y, Ka K
J Anesth 2011 Feb;25(1):123-6. Epub 2010 Dec 9 doi: 10.1007/s00540-010-1059-2. PMID: 21153034
Guadagni MG, Faggella A, Piana G, D'Alessandro G
Eur J Paediatr Dent 2010 Sep;11(3):146-8. PMID: 21080756
Banerjee TK, Chattopadhyay A, Manglik AK, Ghosh B
Neurol India 2006 Mar;54(1):91-3. doi: 10.4103/0028-3886.24719. PMID: 16679655
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201

Prognosis

Sirek S, Filipek E, Wójcik-Niklewska B, Pojda-Wilczek D, Mrukwa-Kominek E
Medicine (Baltimore) 2022 Dec 9;101(49):e31950. doi: 10.1097/MD.0000000000031950. PMID: 36626525Free PMC Article
Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, De Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, La Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D'Arrigo S, Desguerre I, Doco-Fenzy M, d'Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P; Aicardi Syndrome International Study Group
Neurology 2021 Mar 2;96(9):e1319-e1333. Epub 2020 Dec 4 doi: 10.1212/WNL.0000000000011237. PMID: 33277420Free PMC Article
Wong BKY, Sutton VR
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):423-431. Epub 2018 Dec 10 doi: 10.1002/ajmg.c.31658. PMID: 30536540
Bayram E, Topcu Y, Akinci G, Hiz S, Cakmakci H
Ann Saudi Med 2013 Jan-Feb;33(1):73-5. doi: 10.5144/0256-4947.2012.01.7.1545. PMID: 22750766Free PMC Article
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201

Clinical prediction guides

Chappaz A, Barthelmes D, Buser L, Funk J, Gerth-Kahlert C
J AAPOS 2016 Oct;20(5):451-452. Epub 2016 Jun 16 doi: 10.1016/j.jaapos.2016.03.016. PMID: 27320016
Martel JN, Rutar T, Lujan BJ, de Alba Campomanes A
J AAPOS 2011 Jun;15(3):308-10. doi: 10.1016/j.jaapos.2011.03.011. PMID: 21777802Free PMC Article
Rosser T
Arch Neurol 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. PMID: 14568821
Rosser TL, Acosta MT, Packer RJ
Pediatr Neurol 2002 Nov;27(5):343-6. doi: 10.1016/s0887-8994(02)00450-2. PMID: 12504201
Roland EH, Flodmark O, Hill A
J Child Neurol 1989 Oct;4(4):307-10. doi: 10.1177/088307388900400411. PMID: 2794383

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