Cryptophthalmos
Cryptophthalmos is a rare congenital anomaly in which the eyelids are absent, replaced by a continuous layer of skin.
Complete cryptophthalmos. A microphthalmic eye (Fig. 1.85A) is covered by a fused layer of skin with no separation between the lids.
Incomplete cryptophthalmos is characterized by rudimentary lids and microphthalmos (Fig. 1.85B).
Fraser syndrome is a dominantly inherited condition in which cryptophthalmos is a common finding; other features can include syndactyly, urogenital and craniofacial anomalies.
Fig. 1.84 (A) Upper lid colobomas; (B) lower lid colobomas in Treacher Collins syndrome
(Courtesy of U Raina – fig. A)
Fig. 1.85 Cryptophthalmos. (A) Complete; (B) incomplete (Courtesy of D Meyer – fig. A)
Euryblepharon
Euryblepharon refers to horizontal enlargement of the palpebral fissure with associated lateral canthal malposition and lateral ectropion (Fig. 1.86); lagophthalmos and exposure keratopathy may result.
Microblepharon
Microblepharon is characterized by small eyelids, often associated with anophthalmos (Fig. 1.87).
Fig. 1.86 Euryblepharon
(Courtesy of D Taylor and C Hoyt, from Pediatric Ophthalmology and Strabismus, Elsevier 2005)
Fig. 1.87 Microblepharon associated with anophthalmos
Ablepharon
Ablepharon consists of deficiency of the anterior lamellae of the eyelids (Fig. 1.88A); treatment involves reconstructive skin grafting. Ablepharon-macrostomia syndrome is characterized by an enlarged fish-like mouth (Fig. 1.88B), ear, skin and genital anomalies.
Fig. 1.88 (A) Ablepharon; (B) following reconstruction – note enlarged fish-like mouth
(Courtesy of D Taylor and C Hoyt, from Pediatric Ophthalmology and Strabismus, Elsevier 2005 – fig. A; H Mroczkowska – fig. B)
Congenital upper lid eversion
Congenital upper lid eversion is a rare condition more frequently seen in infants of Afro-Caribbean origin, in Down syndrome and in congenital ichthyosis (collodion skin disease – Fig. 1.89). It is typically bilateral and symmetrical. It may resolve spontaneously with conservative treatment or require surgery.
Fig. 1.89 Congenital upper lid eversion in a patient with ichthyosis
(Courtesy of D Meyer)
Fig. 1.90 Ankyloblepharon filiforme adnatum
(Courtesy of D Taylor and C Hoyt, from Pediatric Ophthalmology and Strabismus, Elsevier 2005)
Ankyloblepharon filiforme adnatum
In ankyloblepharon filiforme adnatum the upper and lower eyelids are joined by thin tags (Fig. 1.90); most cases are sporadic. Treatment involves transection with scissors; anaesthesia is not required.
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