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microphthalmos [2026/07/27 11:52] – [Management] Scott Larsonmicrophthalmos [2026/07/27 12:06] (current) – [Definition] Scott Larson
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 ===== Definition ===== ===== Definition =====
  
-**Microphthalmos** (also spelled microphthalmia) is a congenital eye malformation characterized by a **reduction in the volume of the eye**, typically defined as a corneal diameter less than 10 mm or an anteroposterior globe diameter less than 20 mm (or an axial length below 2 standard deviations for chronological age).[1][2] One or both eyes may be affected. In severe cases the eyeball may appear absent, though residual eye tissue is generally present; this severe form should be distinguished from true anophthalmia, in which no eyeball forms at all.[3] Microphthalmos exists on a phenotypic continuum with anophthalmia and coloboma, collectively referred to as the **MAC spectrum** (microphthalmia/anophthalmia/coloboma).[4][2] +**Microphthalmos** (or microphthalmia) is a congenital eye malformation characterized by a **reduction in the volume of the eye** 
- +  * Corneal diameter typically < 10 mm  
-The combined birth prevalence of anophthalmia and microphthalmia is estimated at **up to 30 per 100,000 population**, with microphthalmia reported in up to 11% of blind children.[5] Microphthalmia may or may not result in significant vision loss, and it can occur in isolation (nonsyndromic) or as part of a broader syndrome (syndromic) in approximately one-third to one-half of cases.[3][5]+  * Anteroposterior globe diameter less than 20 mm (or an axial length below 2 standard deviations for chronological age).[1][2]  
 +  * One or both eyes may be affected.  
 +  * Severe cases the eyeball may appear absent, though residual eye tissue is generally present; this severe form should be distinguished from true anophthalmia, in which no eyeball forms at all.[3] 
 +  * Microphthalmos exists on a phenotypic continuum with anophthalmia and coloboma, collectively referred to as the **MAC spectrum** (microphthalmia/anophthalmia/coloboma).[4][2] 
 +  * Combined birth prevalence of anophthalmia and microphthalmia is estimated at **up to 30 per 100,000 population**,  
 +  * Microphthalmia reported in up to 11% of blind children.[5]  
 +  * Isolated (nonsyndromic) 66%  
 +  * Part of a broader syndrome (syndromic) 33%.[3][5]
  
 ===== Associated Conditions ===== ===== Associated Conditions =====
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 Numerous syndromes include microphthalmos as a feature (over 269 listed in the London Dysmorphology Database).[2] Notable examples include: Numerous syndromes include microphthalmos as a feature (over 269 listed in the London Dysmorphology Database).[2] Notable examples include:
  
-  * Waardenburg anophthalmia syndrome +  * [[https://www.ncbi.nlm.nih.gov/medgen/154638|Waardenburg anophthalmia syndrome]] 
-  * PDAC syndrome (Pulmonary hypoplasia/agenesis, Diaphragmatic hernia, Anophthalmia/microphthalmia, Cardiac defects) +  * [[https://pubmed.ncbi.nlm.nih.gov/17506106/|PDAC syndrome]] (Pulmonary hypoplasia/agenesis, Diaphragmatic hernia, Anophthalmia/microphthalmia, Cardiac defects) 
-  * AEG syndrome (Anophthalmia–Esophageal–Genital)[2]+  * [[https://medlineplus.gov/genetics/condition/anophthalmia-microphthalmia-esophageal-atresia-syndrome/|AEG syndrome]] (Anophthalmia–Esophageal–Genital)[2]
  
 ===== Complications ===== ===== Complications =====
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 =====References===== =====References=====
  
-1. Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. Li J, Yang W, Wang YJ, et al. American Journal of Medical Genetics. Part A. 2022;188(8):2376-2388. doi:10.1002/ajmg.a.62874. +  - [[https://pubmed.ncbi.nlm.nih.gov/35716026/|Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. Li J, Yang W, Wang YJ, et al. American Journal of Medical Genetics. Part A. 2022;188(8):2376-2388]] 
-2. Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. Patel N, Khan AO, Alsahli S, et al. Clinical Genetics. 2018;93(6):1210-1222. doi:10.1111/cge.13239. +  - [[https://pubmed.ncbi.nlm.nih.gov/29450879/|Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. Patel N, Khan AO, Alsahli S, et al. Clinical Genetics. 2018;93(6):1210-1222]] 
-3. Microphthalmia. National Library of Medicine (MedlinePlus). +  - [[https://medlineplus.gov/genetics/condition/anophthalmia-microphthalmia/|Anophthalmia & Microphthalmia Medline Plus]] 
-4. Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features: Understanding the Spectrum. Skalicky SE, White AJ, Grigg JR, et al. JAMA Ophthalmology. 2013;131(12):1517-24. doi:10.1001/jamaophthalmol.2013.5305. +  - [[https://pubmed.ncbi.nlm.nih.gov/24177921/|Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features: Understanding the Spectrum. Skalicky SE, White AJ, Grigg JR, et al. JAMA Ophthalmology. 2013;131(12):1517-24]] 
-5. Anophthalmia and Microphthalmia. Verma AS, Fitzpatrick DR. Orphanet Journal of Rare Diseases. 2007;2:47. doi:10.1186/1750-1172-2-47. +  - [[https://pubmed.ncbi.nlm.nih.gov/18039390/|Anophthalmia and Microphthalmia. Verma AS, Fitzpatrick DR. Orphanet Journal of Rare Diseases. 2007;2:47]] 
-6. Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009. Chambers TM, Agopian AJ, Lewis RA, et al. American Journal of Medical Genetics. Part A. 2018;176(9):1810-1818. doi:10.1002/ajmg.a.40352. +  - [[https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40352|Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009. Chambers TM, Agopian AJ, Lewis RA, et al. American Journal of Medical Genetics. Part A. 2018;176(9):1810-1818]] 
-7. Prevalence of Complications in Eyes With Nanophthalmos or Microphthalmos: Protocol for a Systematic Review and Meta-Analysis. Ally N, Ismail S, Alli HD. Systematic Reviews. 2022;11(1):25. doi:10.1186/s13643-022-01889-5. +  - [[https://link.springer.com/article/10.1186/s13643-022-01889-5|Prevalence of Complications in Eyes With Nanophthalmos or Microphthalmos: Protocol for a Systematic Review and Meta-Analysis. Ally N, Ismail S, Alli HD. Systematic Reviews. 2022;11(1):25]] 
-8. Genetics of Anophthalmia and Microphthalmia. Part 1: Non-Syndromic Anophthalmia/Microphthalmia. Plaisancié J, Ceroni F, Holt R, et al. Human Genetics. 2019;138(8-9):799-830. doi:10.1007/s00439-019-01977-y. +  - [[https://pubmed.ncbi.nlm.nih.gov/30762128/|Genetics of Anophthalmia and Microphthalmia. Part 1: Non-Syndromic Anophthalmia/Microphthalmia. Plaisancié J, Ceroni F, Holt R, et al. Human Genetics. 2019;138(8-9):799-830]] 
-9. Genetics of Anophthalmia and Microphthalmia. Part 2: Syndromes Associated With Anophthalmia-Microphthalmia. Slavotinek A. Human Genetics. 2019;138(8-9):831-846. doi:10.1007/s00439-018-1949-1.+  - [[https://pubmed.ncbi.nlm.nih.gov/30374660/|Genetics of Anophthalmia and Microphthalmia. Part 2: Syndromes Associated With Anophthalmia-Microphthalmia. Slavotinek A. Human Genetics. 2019;138(8-9):831-846]]