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Bilateral microphthalmos

MedGen UID:
334420
Concept ID:
C1843496
Congenital Abnormality; Finding
Synonyms: Bilateral microphthalmia; Microphthalmia, bilateral
SNOMED CT: Bilateral microphthalmos (15987151000119103); Microphthalmos of both eyes (15987151000119103); Microphthalmos of bilateral eyes (15987151000119103)
 
HPO: HP:0007633

Definition

A developmental anomaly characterized by abnormal smallness of both eyes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Bilateral microphthalmos

Conditions with this feature

Professional guidelines

PubMed

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
Das D, Modaboyina S, Raj S, Agrawal S, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2559-2563. doi: 10.4103/ijo.IJO_2627_21. PMID: 35791156Free PMC Article
Chaudhry IA, Arat YO, Shamsi FA, Boniuk M
Ophthalmic Plast Reconstr Surg 2004 Nov;20(6):452-7. doi: 10.1097/01.iop.0000143716.12643.98. PMID: 15599246

Recent clinical studies

Etiology

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
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
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
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
Demirci H, Peksayar G, Demirci FY, Buyukbabani N, Demiryont M
J Pediatr Ophthalmol Strabismus 2002 Mar-Apr;39(2):110-3. doi: 10.3928/0191-3913-20020301-12. PMID: 11926178

Diagnosis

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
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
Kurbasic M, Jones FV, Cook LN
Ophthalmic Genet 2000 Dec;21(4):239-42. PMID: 11135495
Chen RM, Lupski JR, Greenberg F, Lewis RA
Ophthalmology 1996 Jul;103(7):1084-91. doi: 10.1016/s0161-6420(96)30563-0. PMID: 8684798
Rains DE, McCoy DA, Nelson EJ
Ann Ophthalmol 1972 Aug;4(8):646-52. PMID: 5052036

Therapy

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

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
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
Demirci H, Peksayar G, Demirci FY, Buyukbabani N, Demiryont M
J Pediatr Ophthalmol Strabismus 2002 Mar-Apr;39(2):110-3. doi: 10.3928/0191-3913-20020301-12. PMID: 11926178
Elder MJ
Br J Ophthalmol 1994 May;78(5):332-4. doi: 10.1136/bjo.78.5.332. PMID: 8025062Free PMC Article
Mayer UM, Bialasiewicz AA
Ophthalmic Paediatr Genet 1989 Mar;10(1):69-72. doi: 10.3109/13816818909083777. PMID: 2787011

Clinical prediction guides

Khullar S, Ambiya V, Kapoor G, Sharma VK
BMJ Case Rep 2024 Nov 20;17(11) doi: 10.1136/bcr-2024-261738. PMID: 39572068
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
Kemmanu V, Hegde K, Giliyar SK, Shetty BK, Kumaramanickavel G, McCarty CA
Ophthalmic Epidemiol 2016 Jun;23(3):185-92. Epub 2016 May 4 doi: 10.3109/09286586.2015.1090003. PMID: 27142419
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
Chen RM, Lupski JR, Greenberg F, Lewis RA
Ophthalmology 1996 Jul;103(7):1084-91. doi: 10.1016/s0161-6420(96)30563-0. PMID: 8684798

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