Ocular Manifestations of the NAA10-Related Syndrome

Table 1

Summary of the 20 patients with the NAA10-related syndrome that have reported ocular findings.

(a)

	Rope, et al. 2011					Esmailpour, et al. 2014			Casey, et al. 2015
NAA10 gene pathogenic variant	c.109T>C p.Ser37Pro	c.109T>C p.Ser37Pro	c.109T>C p.Ser37Pro	c.109T>C p.Ser37Pro	c.109T>C p.Ser37Pro	Intron 7 splice c.471+2T→A	Intron 7 splice c.471+2T→A	Intron 7 splice c.471+2T→A	c.128A>C p.(Tyr43Ser)
Inheritance	inherited	inherited	inherited	inherited	inherited	inherited	inherited	inherited	inherited
Gender	M	M	M	M	M	M	M	M	M
Eye findings	Hypertelorism	Prominent eyes, downslanted palpebral fissures, ocular hypertelorism	Prominent eyes, downslanted palpebral fissures, ocular hypertelorism	Large eyes, bilateral ptosis	Mild lagophthalmos, infraorbital creases	Anophthalmia/; microphthalmia	Anophthalmia/; microphthalmia	Anophthalmia/; microphthalmia	Moderate right convergent squint, hyperopic astigmatism, dense right amblyopia
Dysmorphic features	+	+	+	+		+	+	+	+
Cardiac anomalies	+	+	+		+				+
Renal anomalies	+	-	-
Neuro		MRI brain: bilateral globus pallidus T2 prolongation without diffusion restriction, ventricular dilation			Hyper/; hypotonia	MRI- arterial sclerosis	Seizures		Hypotonia. MRI- mild dialation of ventricles nd mild cerebral atrophy
Feeding issues/FTT	-	+	+	+					-
Developmental delay		+		+	+	+	+	+	+
Motor delay		+		+	+				+

(b)

	Saunier, et al. 2016									Valentine, et al. 2018	Gupta, et al. 2019
NAA10 gene pathogenic variant	c.319G>T p.(Val107Phe)	c.384T>A p.(Phe128Leu)	c.384T>A p.(Phe128Leu)	c.382T>A p.(Phe128Ile)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.247C>T p.(Arg83Cys)	c.346C>T (p.Arg116Trp)	c.247C>T p.(Arg83Cys)
Inheritance	de novo	de novo	de novo	de novo	de novo	de novo	de novo	de novo	inherited	de novo	de novo
Gender	F	F	F	F	F	F	F	F	F	F	F
Eye findings	Astigmatism, strabismus, mild optic atrophy	Cortical vision impairment	Cortical vision impairment, ambylopia	Hyperopia, astigmatism, exotropia	Myopia, astigmatism	Alternating exotropia, cortical vision impairment	Astigmatism, hyperopia	Hyperopia	Myopia	Ptosis, eyelid myoclonus	Myopic astigmatism, nystagmus, exotropia
Dysmorphic features	+	-				+		+	+	+	+
Cardiac anomalies	+	+	-	+	+	-	+	+	-	-	-
Renal anomalies	-	-	-	-	-	-	+	-	+		-
Neuro	Hypotonia. MRI- thin corpus callosum	Hypotonia. MRI- parenchymal atrophy, thin corpus callosum. Pre and postnatal vetriculomegaly	Hypotonia. Seizures. MRI normal at age 1	Hyper/; hypotonia. MRI- Supraventricular cyst without hyocephalus	Hypotonia. MRI- Periventricular white matter loss	Hyper/; hypotonia. MRI- IVH occipital horn, periventricular leukomalacia, hypoxia ischemic encephalopathy	Hypotonia. MRI normal at age 3		Hypertonia	Hypo/; hypertonia. Absence seizures	Hypotonia, seizures, MRI at age 3- ventricular prominence without hydrocephalus and diminutive geni and corpus callosum
Feeding issues/FTT	+	+	+	+	+	+	+	+		-	+
Developmental delay	+	+	+	+	+	+	+	+	+	+	+
Motor delay	+	+	+		+	+	+	+	+		+