Bookmarks
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Anophthalmos = anophthalmia
- Microphthalmos = microphthalmia
Definitions
- Anophthalmia: Complete absence of globe in presence of ocular adnexa
- Microphthalmia: Globe with total axial length (TAL) < 2 standard deviations below mean for age
- < 19 mm in 1 year old or < 21 mm in adult
- Normal neonatal eye is 17 mm, achieves adult-sized globe by 3 years of age
- < 19 mm in 1 year old or < 21 mm in adult
- Nanophthalmos: Type of simple microphthalmia + microcornea, bilateral TAL < 18 mm and hyperopia
IMAGING
General Features
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Slavotinek A: Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Hum Genet. ePub, 2018
- Couser NL et al: Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 38(5):401-12, 2017
- Kondo H et al: Familial acorea, microphthalmia and cataract syndrome. Br J Ophthalmol. 97(9):1155-60, 2013
- Skalicky SE et al: Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. JAMA Ophthalmol. 131(12):1517-24, 2013
- Fruhman G et al: Ophthalmologic findings in Aicardi syndrome. J AAPOS. 16(3):238-41, 2012
- Mittal V et al: Duane retraction syndrome with posterior microphthalmos: a rare association. J Pediatr Ophthalmol Strabismus. 49 Online:e48-51, 2012
- Shah SP et al: Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. Ophthalmology. 119(2):362-8, 2012
- Brooks BP et al: Ocular manifestations of trichothiodystrophy. Ophthalmology. 118(12):2335-42, 2011
- Blazer S et al: Early and late onset fetal microphthalmia. Am J Obstet Gynecol. 194(5):1354-9, 2006
- Forrester MB et al: Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001. Birth Defects Res A Clin Mol Teratol. 76(3):187-92, 2006
- Albernaz VS et al: Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. 18(3):555-61, 1997
- Bremond-Gignac DS et al: In utero eyeball development study by magnetic resonance imaging. Surg Radiol Anat. 19(5):319-22, 1997
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Anophthalmos = anophthalmia
- Microphthalmos = microphthalmia
Definitions
- Anophthalmia: Complete absence of globe in presence of ocular adnexa
- Microphthalmia: Globe with total axial length (TAL) < 2 standard deviations below mean for age
- < 19 mm in 1 year old or < 21 mm in adult
- Normal neonatal eye is 17 mm, achieves adult-sized globe by 3 years of age
- < 19 mm in 1 year old or < 21 mm in adult
- Nanophthalmos: Type of simple microphthalmia + microcornea, bilateral TAL < 18 mm and hyperopia
IMAGING
General Features
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Slavotinek A: Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Hum Genet. ePub, 2018
- Couser NL et al: Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 38(5):401-12, 2017
- Kondo H et al: Familial acorea, microphthalmia and cataract syndrome. Br J Ophthalmol. 97(9):1155-60, 2013
- Skalicky SE et al: Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. JAMA Ophthalmol. 131(12):1517-24, 2013
- Fruhman G et al: Ophthalmologic findings in Aicardi syndrome. J AAPOS. 16(3):238-41, 2012
- Mittal V et al: Duane retraction syndrome with posterior microphthalmos: a rare association. J Pediatr Ophthalmol Strabismus. 49 Online:e48-51, 2012
- Shah SP et al: Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. Ophthalmology. 119(2):362-8, 2012
- Brooks BP et al: Ocular manifestations of trichothiodystrophy. Ophthalmology. 118(12):2335-42, 2011
- Blazer S et al: Early and late onset fetal microphthalmia. Am J Obstet Gynecol. 194(5):1354-9, 2006
- Forrester MB et al: Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001. Birth Defects Res A Clin Mol Teratol. 76(3):187-92, 2006
- Albernaz VS et al: Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. 18(3):555-61, 1997
- Bremond-Gignac DS et al: In utero eyeball development study by magnetic resonance imaging. Surg Radiol Anat. 19(5):319-22, 1997
