{Reference Type}: Systematic Review
{Title}: Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
{Author}: Le H;Jin E;Jewell A;Jackson-Cook C;Haskell GT;Couser N;
{Journal}: Am J Med Genet A
{Volume}: 191
{Issue}: 6
{Year}: 06 2023 20
{Factor}: 2.578
{DOI}: 10.1002/ajmg.a.63186
{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.