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Anophthalmia/Microphthalmia
Bernadette L. Koch, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          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 size 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. Kondo H et al: Familial acorea, microphthalmia and cataract syndrome. Br J Ophthalmol. 97(9):1155-60, 2013
                                  2. Skalicky SE et al: Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. JAMA Ophthalmol. 131(12):1517-24, 2013
                                  3. Fruhman G et al: Ophthalmologic findings in Aicardi syndrome. J AAPOS. 16(3):238-41, 2012
                                  4. Mittal V et al: Duane retraction syndrome with posterior microphthalmos: a rare association. J Pediatr Ophthalmol Strabismus. 49 Online:e48-51, 2012
                                  5. 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
                                  6. Brooks BP et al: Ocular manifestations of trichothiodystrophy. Ophthalmology. 118(12):2335-42, 2011
                                  7. Blazer S et al: Early and late onset fetal microphthalmia. Am J Obstet Gynecol. 194(5):1354-9, 2006
                                  8. 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
                                  9. Albernaz VS et al: Imaging findings in patients with clinical anophthalmos. AJNR Am J Neuroradiol. 18(3):555-61, 1997
                                  10. 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

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