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Cryptophthalmos - Wikipedia

From Wikipedia, the free encyclopedia

Cryptophthalmos
Other names	Cryptophthalmia
Specialty	Medical genetics, ophthalmology

Cryptophthalmos is a rare congenital anomaly in which the skin is continuous over the eyeball with absence of palpebral fissures and presence of eyelashes.^[1] It is classified into three types: complete, incomplete and abortive. Failure of eyelid separation can be associated with maldevelopment of the underlying cornea and microphthalmia. Cryptophthalmos usually occurs on both sides and occurs in association with multiple other malformations collectively referred to as Fraser syndrome.^[2] Along with microphthalmia (small or underdeveloped globe), it may be associated with a tuft of hair.^[1]

Signs and symptoms

Complete cryptophthalmos is the most severe form of cryptophthalomos. Complete cryptophthalmos is characterized by complete occlusion of the eye sockets and fusion of the skin on the forehead and cheeks. Those with complete cryptophthalmos have no eyebrows, gland structures, or eyelashes. They also lack a conjunctival sac and the overlying skin fuses with the cornea. Other deformities of the globe are often seen alongside complete cryptophthalmos.^[3]

Those with incomplete cryptophthalmos still have rudimentary eyelids as well as laterally placed small conjunctive sacs. Undeveloped parts of the eyelid still fuse to the malformed globe. The eye globe is typically smaller and covered by skin. In incomplete cryptophthalmos, the palpebral fissure is about a third of the typical length.^[3]

Occular cysts can develop in both complete and incomplete forms of cryptophthalmos.^[3]

Abortive cryptophthalmos is characterized by the absence of the upper eyelid as well as 75% of the cornea adhered to and covered by the forehead skin. The eye globe size often varies in Abortive cryptophthalmos.^[3]

Diagnosis

Ultrasound technology is able to detect cryptophthalmos around 18 weeks of gestation. Ultrasound will show a lack of palpebral fissure between the lower and upper eyelids. The skin from the cheek and forehead appears continuous on an ultrasound.^[3]

Treatment

There is not much potential for perfect vision in cryptophthalmos, therefore treatment is mostly focused on the reconstruction of the eye. Surgery can be used to separate fused eyelids and restore some function. When surgery is not possible prosthetic eyelids may be used.^[3]

References

^ ^a ^b "Cryptophthalmos". Elements of Morphology. National Human Genome Research Institute. Retrieved 2022-10-30.
^ Katowitz, James A.; Katowitz, William R. (2017-11-30). Pediatric Oculoplastic Surgery. Springer. p. 314. ISBN 9783319608143.
^ ^a ^b ^c ^d ^e ^f "Cryptophthalmos". EyeWiki. September 23, 2023. Retrieved November 21, 2023.

External links

Congenital malformations and deformations of eyes

Adnexa

Eyelid	Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon
Lacrimal apparatus	Congenital lacrimal duct obstruction

Globe

Entire eye	Anophthalmia (Cystic eyeball, Cryptophthalmos) Microphthalmia
Lens	Ectopia lentis Aphakia
Iris	Aniridia
Anterior segment	Axenfeld–Rieger syndrome
Cornea	Keratoglobus Megalocornea Cornea plana 1 Cornea plana 2
Retina	Megalopapilla
Other	Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie disease

Category:

Congenital disorders of eyes

Hidden categories:

Classification	D ICD-11: LA14.01 ICD-10: Q11.2 ICD-9-CM: 743.06 OMIM: 123570 DiseasesDB: 29617 SNOMED CT: 400951005
External resources	GARD: Cryptophthalmia Orphanet: 91396 Scholia: Q590324