[MIM 206 900 for anophthalmia, 309 700 for microphthalmia]

(nanophthalmia)

The prevalence is estimated at 1/33,000. It is the cause of about 11 percent of cases of blindness in childhood. It can be isolated or associated, in 1/3 of cases, to a syndrome such as: 3q duplication  4p duplication, 10q duplication,  7p15.1 - p21.1 deletion,  q 14q22.1 deletion - q23.2, 13q syndrome or 13 ring, trisomy 13, trisomy 18, 18q syndrome, triploidy, Wolf-Hirschhorn syndrome.

Among the monogenic causes, a mutation of the  SOX2, PAX6, OTX2, CHX10 or RAX genes may be involved. Environmental causes are in utero exposure to infection or some toxics: XRays, thalidomide.

The term anophthalmia is used when the eyeball is absent, even if rudimentary annexes are still present (eyelashes, eyelids) and microphthalmia if the corneal diameter is less than 10 mm or the antero-posterior diameter of the eyeball is less than 20 mm.

Anesthetic implications:

according to the associated anomalies

References : 

• Verma AS, FitzPatrick  DR.
  Anophtalmia and microphtalmia.
  Orphanet J Rare Diseases 2007; 2: 47.
• Updated: May 2017