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Case Reports
. 2023 Jun;191(6):1639-1645.
doi: 10.1002/ajmg.a.63186. Epub 2023 Mar 20.

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

Hong Le  1 , Eva Jin  1 , Ann Jewell  2 , Colleen Jackson-Cook  2   3 , Gloria T Haskell  4 , Natario Couser  2   5   6
Affiliations
Case Reports

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

Hong Le et al. Am J Med Genet A. 2023 Jun.

Abstract

The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-month-old female who has a 6.07 MB 6p25.1p25.3 deletion and a 4.25 MB 17q25.3 duplication. Our patient presented with multiple congenital anomalies, including macrocephaly, frontal bossing, low set ears, tent-shaped mouth, saddle nose, flat midface, and hearing impairment. Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions included 63 cases with a confirmed 6p25 deletion. The most common eye findings observed were posterior embryotoxon, iris hypoplasia, corectopia, cornea opacity, and glaucoma.

Keywords: 6p25 deletion; Axenfeld-Rieger syndrome; FOXC1; anterior segment dysgenesis; corectopia; posterior embryotoxon.

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References

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