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Anophthalmia/Microphthalmia
Bernadette L. Koch, MD
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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
              • 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

                                    1. Slavotinek A: Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Hum Genet. ePub, 2018
                                    2. Couser NL et al: Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 38(5):401-12, 2017
                                    3. Kondo H et al: Familial acorea, microphthalmia and cataract syndrome. Br J Ophthalmol. 97(9):1155-60, 2013
                                    4. Skalicky SE et al: Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. JAMA Ophthalmol. 131(12):1517-24, 2013
                                    5. Fruhman G et al: Ophthalmologic findings in Aicardi syndrome. J AAPOS. 16(3):238-41, 2012
                                    6. Mittal V et al: Duane retraction syndrome with posterior microphthalmos: a rare association. J Pediatr Ophthalmol Strabismus. 49 Online:e48-51, 2012
                                    7. 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
                                    8. Brooks BP et al: Ocular manifestations of trichothiodystrophy. Ophthalmology. 118(12):2335-42, 2011
                                    9. Blazer S et al: Early and late onset fetal microphthalmia. Am J Obstet Gynecol. 194(5):1354-9, 2006
                                    10. 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
                                    11. Albernaz VS et al: Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. 18(3):555-61, 1997
                                    12. Bremond-Gignac DS et al: In utero eyeball development study by magnetic resonance imaging. Surg Radiol Anat. 19(5):319-22, 1997
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    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
                                                • 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

                                                                      1. Slavotinek A: Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Hum Genet. ePub, 2018
                                                                      2. Couser NL et al: Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 38(5):401-12, 2017
                                                                      3. Kondo H et al: Familial acorea, microphthalmia and cataract syndrome. Br J Ophthalmol. 97(9):1155-60, 2013
                                                                      4. Skalicky SE et al: Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. JAMA Ophthalmol. 131(12):1517-24, 2013
                                                                      5. Fruhman G et al: Ophthalmologic findings in Aicardi syndrome. J AAPOS. 16(3):238-41, 2012
                                                                      6. Mittal V et al: Duane retraction syndrome with posterior microphthalmos: a rare association. J Pediatr Ophthalmol Strabismus. 49 Online:e48-51, 2012
                                                                      7. 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
                                                                      8. Brooks BP et al: Ocular manifestations of trichothiodystrophy. Ophthalmology. 118(12):2335-42, 2011
                                                                      9. Blazer S et al: Early and late onset fetal microphthalmia. Am J Obstet Gynecol. 194(5):1354-9, 2006
                                                                      10. 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
                                                                      11. Albernaz VS et al: Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. 18(3):555-61, 1997
                                                                      12. Bremond-Gignac DS et al: In utero eyeball development study by magnetic resonance imaging. Surg Radiol Anat. 19(5):319-22, 1997