Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)

Abstract

BackgroundKabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions.Case presentationA 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation.ConclusionThe presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

“…A number of rare and atypical findings have also been described in Kabuki syndrome, including coloboma, and micropthalmia [Genevieve et al, ; Teissier et al, ; Chen et al, ; Schulz et al, ; Verhagen et al, ; Patel and Alkuraya, ], findings that are more commonly associated with CHARGE syndrome (coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary malformations, and ear anomalies) (OMIM 214800), a distinct disorder with multiple congenital anomalies caused by alterations in the CHD7 gene. Recently, in the context of advances in our molecular understanding of these two syndromes, the finding of archetypal CHARGE syndrome features in patients with Kabuki syndrome has led to reports proposing an etiological link between the two syndromes [Schulz et al, ; Patel and Alkuraya, ].…”

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

“…Although KS has been reported across all ethnicities only few individual case reports and small case series have been published on KS patients of Chinese descent (Chen, Sun, Hsia, Lai, & Wu, 2014;Guo, Liu, & Li, 2018;Liu et al, 2015;Lu, Mo, Ling, & Ji, 2016;Xin et al, 2018;Yang et al, 2016). Here we report our experience on 14 genetically confirmed patients with KS in addition to 11 patients whose information was retrieved from the medical literature.…”

The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

“…Previously reported ocular findings of Kabuki patients include the following: arched eyebrows, long eyelashes, long palpebral fissures, everted lower lids, nystagmus, strabismus, colobomatous microphthalmos; dysplastic and elevated disc without central cupping (Chen et al. ), and myelinated nerve fibre layer. (Duval et al.…”