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Unilateral Anophthalmos

MedGen UID:
768662
•Concept ID:
C3640022
•
Congenital Abnormality

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnilateral Anophthalmos

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
Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.
Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M
Acta Ophthalmol 2020 Dec;98(8):848-858. Epub 2020 May 21 doi: 10.1111/aos.14427. PMID: 32436650
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

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
Lacrimal drainage system anomalies in microphthalmia anophthalmia coloboma complex.
Nayak A, Dave TV, Ali MJ, Tiwari A
Orbit 2020 Jun;39(3):155-159. Epub 2019 Jul 3 doi: 10.1080/01676830.2019.1634105. PMID: 31267812
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
Imaging findings in patients with clinical anophthalmos.
Albernaz VS, Castillo M, Hudgins PA, Mukherji SK
AJNR Am J Neuroradiol 1997 Mar;18(3):555-61. PMID: 9090423Free PMC Article

Diagnosis

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
Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos.
Singh S, Sharma A, Mittal V, Ali MJ
Eur J Ophthalmol 2021 Mar;31(2):NP12-NP14. Epub 2019 Nov 26 doi: 10.1177/1120672119891475. PMID: 31771345
Spontaneous reversal of nystagmus in the dark.
Shawkat FS, Harris CM, Taylor DS
Br J Ophthalmol 2001 Apr;85(4):428-31. doi: 10.1136/bjo.85.4.428. PMID: 11264132Free PMC Article
Imaging findings in patients with clinical anophthalmos.
Albernaz VS, Castillo M, Hudgins PA, Mukherji SK
AJNR Am J Neuroradiol 1997 Mar;18(3):555-61. PMID: 9090423Free PMC Article
Self-inflicted corneal injuries in children with congenital corneal anaesthesia.
Trope GE, Jay JL, Dudgeon J, Woodruff G
Br J Ophthalmol 1985 Jul;69(7):551-4. doi: 10.1136/bjo.69.7.551. PMID: 2410014Free 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

Prognosis

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

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
Spontaneous reversal of nystagmus in the dark.
Shawkat FS, Harris CM, Taylor DS
Br J Ophthalmol 2001 Apr;85(4):428-31. doi: 10.1136/bjo.85.4.428. PMID: 11264132Free PMC Article

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