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--- microphthalmos [2026/07/27 11:51] – [Management] Scott Larson
+++ microphthalmos [2026/07/27 12:06] (current) – [Definition] Scott Larson
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 ===== 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 =====
@@ Line 33: / Line 40: @@
 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 =====
@@ Line 77: / Line 84: @@
 ===== Management =====
-Patients are often managed by multidisciplinary teams including ophthalmologists, paediatricians, and clinical geneticists.[5] Treatment is directed toward maximizing existing vision and improving cosmesis through stimulation of soft tissue and bony orbital growth. Mild to moderate cases are managed conservatively with conformers, while severe microphthalmos and anophthalmia may require endo-orbital volume replacement with implants, expanders, or dermis-fat grafts and soft tissue reconstruction.[5] Genetic counselling is indicated but can be challenging due to the extensive genetic heterogeneity and variable phenotypic expression.[5][8]
+   * Maximizing existing vision and improving cosmesis through stimulation of soft tissue and bony orbital growth.
+     * Mild to moderate cases are managed conservatively with conformers
+     * severe microphthalmos and anophthalmia may require endo-orbital volume replacement with implants, expanders, or dermis-fat grafts and soft tissue reconstruction.[5]
+   * Genetic counselling is indicated but can be challenging due to the extensive genetic heterogeneity and variable phenotypic expression.[5][8]
 =====References=====
-. 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]]
-. 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]]
-. Microphthalmia. National Library of Medicine (MedlinePlus).
+  - [[https://medlineplus.gov/genetics/condition/anophthalmia-microphthalmia/|Anophthalmia & Microphthalmia Medline Plus]]
-. 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]]
-. 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]]
-. 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]]
-. 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]]
-. 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]]
-. 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]]