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Bilateral anophthalmos of eyes

MedGen UID:
768661
•Concept ID:
C3640021
•
Congenital Abnormality
Synonyms: Anophthalmos of bilateral eyes; Anophthalmos of both eyes; Bilateral Anophthalmos; Bilateral anophthalmos
SNOMED CT: Anophthalmos of bilateral eyes (15665641000119103); Anophthalmos of both eyes (15665641000119103); Bilateral anophthalmos (15665641000119103); Bilateral anophthalmos of eyes (15665641000119103)

Definition

A rare congenital abnormality characterized by the complete absence of ocular tissue in both orbits. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBilateral anophthalmos of eyes

Professional guidelines

PubMed

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
Harding P, Gore S, Malka S, Rajkumar J, Oluonye N, Moosajee M
Br J Ophthalmol 2023 Nov 22;107(12):1925-1935. doi: 10.1136/bjo-2022-321991. PMID: 36192130Free PMC Article
Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.
Shah SP, Taylor AE, Sowden JC, Ragge N, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies Special Interest Group
Ophthalmology 2012 Feb;119(2):362-8. Epub 2011 Nov 4 doi: 10.1016/j.ophtha.2011.07.039. PMID: 22054996

Recent clinical studies

Etiology

Cryptophthalmos: associated syndromes and genetic disorders.
Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
Harding P, Gore S, Malka S, Rajkumar J, Oluonye N, Moosajee M
Br J Ophthalmol 2023 Nov 22;107(12):1925-1935. doi: 10.1136/bjo-2022-321991. PMID: 36192130Free PMC Article
Therapeutic Strategies in 103 Children with Congenital Microphthalmos.
Schittkowski MP, Martius S, Elabbasy M, Knappe S, Guthoff RF
Klin Monbl Augenheilkd 2022 Jan;239(1):64-72. Epub 2022 Feb 4 doi: 10.1055/a-1685-5002. PMID: 35120379
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital.
Galindo-Ferreiro A, Elkhamary SM, Alhammad F, AlGhafri L, AlWehaib M, Alessa D, Aldossari S, Akaishi P, Khadekar R, AlShaikh O, Schellini SA
Orbit 2019 Jun;38(3):192-198. Epub 2018 Oct 4 doi: 10.1080/01676830.2018.1521843. PMID: 30285524

Diagnosis

Cryptophthalmos: associated syndromes and genetic disorders.
Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR, Katowitz JA
Ophthalmic Genet 2023 Dec;44(6):547-552. Epub 2023 Jul 26 doi: 10.1080/13816810.2023.2237568. PMID: 37493047
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
Harding P, Gore S, Malka S, Rajkumar J, Oluonye N, Moosajee M
Br J Ophthalmol 2023 Nov 22;107(12):1925-1935. doi: 10.1136/bjo-2022-321991. PMID: 36192130Free PMC Article
Therapeutic Strategies in 103 Children with Congenital Microphthalmos.
Schittkowski MP, Martius S, Elabbasy M, Knappe S, Guthoff RF
Klin Monbl Augenheilkd 2022 Jan;239(1):64-72. Epub 2022 Feb 4 doi: 10.1055/a-1685-5002. PMID: 35120379
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Congenital Bilateral Anophthalmia: a Case Report and Review of Literature.
Halilbasic M, Jusufovic V, Musanovic Z, Cabric A
Med Arch 2018 Oct;72(4):300-302. doi: 10.5455/medarh.2018.72.300-302. PMID: 30515001Free PMC Article

Therapy

The Nasolacrimal Drainage System in 143 Children with the Microphthalmos-Anophthalmos Complex.
Schittkowski MP, Leha A, Horn M, Naxer S
Klin Monbl Augenheilkd 2022 Jan;239(1):57-63. Epub 2022 Feb 4 doi: 10.1055/a-1721-2375. PMID: 35120378
Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.
Cayir A, Tasdemir S, Eroz R, Yuce I, Orbak Z, Tatar A
Genet Couns 2013;24(3):307-12. PMID: 24341146
Early auditory processing in area V5/MT+ of the congenitally blind brain.
Watkins KE, Shakespeare TJ, O'Donoghue MC, Alexander I, Ragge N, Cowey A, Bridge H
J Neurosci 2013 Nov 13;33(46):18242-6. doi: 10.1523/JNEUROSCI.2546-13.2013. PMID: 24227733Free PMC Article
Expansion of the socket and orbit for congenital clinical anophthalmia.
Gundlach KK, Guthoff RF, Hingst VH, Schittkowski MP, Bier UC
Plast Reconstr Surg 2005 Oct;116(5):1214-22. doi: 10.1097/01.prs.0000181653.38200.eb. PMID: 16217460
Anophthalmic socket and orbital implants. Role of CT and MR imaging.
Ainbinder DJ, Haik BG, Mazzoli RA
Radiol Clin North Am 1998 Nov;36(6):1133-47, xi. doi: 10.1016/s0033-8389(05)70236-0. PMID: 9884693

Prognosis

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.
Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S
BMC Med Genet 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6. PMID: 30200890Free PMC Article
Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients.
Schittkowski MP, Guthoff RF
Br J Ophthalmol 2010 Apr;94(4):487-93. Epub 2009 Oct 12 doi: 10.1136/bjo.2009.163436. PMID: 19822908
Management of microphthalmos and anophthalmos: prosthetic experience.
Oberhansli C, Charles-Messance D, Munier F, Spahn B
Klin Monbl Augenheilkd 2003 Mar;220(3):134-7. doi: 10.1055/s-2003-38184. PMID: 12664365
Bilateral clinical anophthalmos.
Young A, O'Keefe M
Acta Ophthalmol Scand 1997 Jun;75(3):308-10. doi: 10.1111/j.1600-0420.1997.tb00781.x. PMID: 9253982

Clinical prediction guides

The Nasolacrimal Drainage System in 143 Children with the Microphthalmos-Anophthalmos Complex.
Schittkowski MP, Leha A, Horn M, Naxer S
Klin Monbl Augenheilkd 2022 Jan;239(1):57-63. Epub 2022 Feb 4 doi: 10.1055/a-1721-2375. PMID: 35120378
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.
Fahnehjelm C, Dafgård Kopp E, Wincent J, Güven E, Nilsson M, Olsson M, Teär Fahnehjelm K
Ophthalmic Genet 2022 Apr;43(2):172-183. Epub 2022 Feb 2 doi: 10.1080/13816810.2021.1989600. PMID: 35105264
Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
Tibrewal S, Subhedar K, Sen P, Mohan A, Singh S, Shah C, Nischal KK, Ganesh S; Bodhya Eye Consortium
Br J Ophthalmol 2021 Jul;105(7):897-903. Epub 2020 Aug 22 doi: 10.1136/bjophthalmol-2020-316910. PMID: 32829301
RAX and anophthalmia in humans: evidence of brain anomalies.
Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF
Mol Vis 2012;18:1449-56. Epub 2012 Jun 2 PMID: 22736936Free PMC Article
SOX2 anophthalmia syndrome.
Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR
Am J Med Genet A 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642. PMID: 15812812

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