New corneal findings in chromosome 10 deletion syndrome: report of two cases of corneal ectasia of varying severity.
OBJECTIVE
To describe corneal changes associated with chromosome 10 terminal deletion (chromosome 10, monosomy 10qter) syndrome.


METHODS
Report of two cases of bilateral corneal ectasia with literature review.


RESULTS
Corneal pathology has not previously been reported in the limited number of case reports on 10qter syndrome. However, Rodrigues et al.(1) have reported sclerocornea in 10q translocation.


CONCLUSIONS
Ophthalmic manifestations of 10qter syndrome include strabismus, lid, and facial anomalies. We present two cases of corneal ectasia of varying severity. Possible etiologies include the following: secondary to genetic factors, acquired corneal exposure during sleep, or possible intrinsic immunocompromise exacerbating ocular surface infections. Corneal ectasia with specific histological changes is a feature of various genetic disorders (e.g., Down's, Ehler's Danlos, and Marfan's syndromes). It is unknown whether genetics plays a role in the development of corneal changes in 10qter syndrome. Management of inflammation and visual rehabilitation in these patients poses a therapeutic challenge.
Tennent Institute of Ophthalmology, Eye Department, Gartnavel General Hospital , Glasgow , UK .
Lik Thai
LT
Lim
Ajmal
A
Rehman
Mohammad Tahir
MT
Masoud
Amrita
A
Jaiya
Peng Yi
PY
Tan
J Angus
JA
Scott
D000293:Adolescent; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D004108:Dilatation, Pathologic / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male
10q; 10qter; chromosome 10; cornea; karyotype; keratoectasia