New fundus findings in a case of Kabuki syndrome

Sir,

Kabuki syndrome is a multiple congenital anomalies/mental retardation syndrome of unknown cause. Its five cardinal manifestations are characteristic facies, skeletal anomalies, dermatoglyphic anomalies, mental retardation, and short stature.^{1, 2, 3, 4}

We report a case of tortuous retinal vessels and prepapillary gliosis in Kabuki syndrome.

Case report

A 21-year-old man diagnosed with Kabuki syndrome by the medical geneticist was referred with peculiar optic discs and macula irregularities.

He was born by caesarean section following fetal distress. He was noted to have cleft soft palate, micrognathia (Figure 1), and umbilical hernia. He developed jaundice after birth and was treated with phototherapy. He also had a hypoglycaemic seizure in early neonatal period. He was fed with cow's milk and egg-free diet as he developed severe immediate hypersensitivity reaction to them. Chromosomal studies showed a normal 46 XY pattern with no evidence of fragile X syndrome. Molecular and cytogenetic studies revealed no abnormalities. There was no history of consanguinity or background of mental disability or peculiar facies. Other features included short stature, moderate learning, and coordination difficulties and general developmental delay. Previously, he had squint surgery to correct left inferior oblique overaction, cleft palate repair, bilateral myringoplasty, and left tympanoplasty. He went to speech therapy once yearly.

Figure 1

Photograph shows long palpebral fissures, mild ptosis, arched eyebrows, and micrognathia.

Aided visual acuities were 6/6 with normal orthoptic assessment. There were long malformed ears, long palpebral fissures, lower palpebral eversions, mild ptosis, arched eyebrows with lateral thinning of eyebrows, and prominent eyelashes (Figure 1). There were also fetal fingertip pads and abnormally short fifth digits in both hands (Figure 2). The anterior segment examination was normal. The fundus examination showed right prepapillary gliosis, bilateral tortuous retinal vessels, foveal irregular pigmentation, and tilted discs (Figures 3 and 4). The axial lengths of right and left eyes were 24.42 and 24.67 mm, respectively. The updated refraction showed −2.00 −0.50 at 100 (right eye) and −2.50 −1.00 at 100 (left eye).

Figure 2

Photograph shows fetal fingertip pads.

Figure 3

The fundus photograph of right eye shows prepapillary gliosis, tortuous retinal vessels, foveal irregular pigmentation, and tilted disc.

Figure 4

The fundus photograph of left eye shows tortuous retinal vessels, foveal irregular pigmentation, and tilted disc.

Comment

Amblyopia, refractive errors, strabismus, nystagmus, colobomas, microcornea, corneal opacities, blue sclera, cataracts, nasolacrimal duct obstruction, jaw-winking ptosis, caruncle lipoma, cornea pannus, retinal telangiectasia, and retinal pigmentation have all been reported in Kabuki syndrome.^{5, 6, 7, 8, 9} To the best of our knowledge, prepapillary gliosis and tortuous retinal vessels have not been reported (Table 1).

Table 1