Molecular Vision: Elmakkawy, Mol Vis 2026; 32:1-20. Table 1

Table 1. Demographic, clinical, and molecular data of the A/M patients subjected to molecular studies (n=28).

	Family/ Patient ID	Age	Sex	Cons	F.H.	Ocular phenotype	Extra-ocular phenotype	Gene	Variant	Type	Zygosity	ACMG classification	gnomAD (v4.1.0)	Diagnosis Inheritance
Non-syndromic (Isolated) A/M cases	F7/P7	5y	M	-	-	Rt M – Lt A - Rt Peters anomaly		OTX2	NM_021728.4:	Missense	Het	LP (PM2-PM6-PP3-PM5- PP2)	Not found	Retinal dystrophy, early-onset, with or without pituitary dysfunction
(n=15)							-		c.278G>C					AD
									p.Trp93Ser
									(Novel)
	F8/P8	3m	M	-	-	Lt M - disc and chorioretinal coloboma		PRR12	NM_020719.3:	Nonsense	Het	P (PS4-PVS1-PM2-PP5)	Not found	Neuro-ocular syndrome
							-		c.3625C>T					AD
									p.Arg1209*
									(Novel)
	F9/	10y	F	+	+	BM - cataract – nystagmus - squint		GCNT2	NM_145649.5:	Missense	Hom	VUS (PM2-PP5-PS3-PP1)	1.61E-05	Cataract 13 with adult i phenotype
	P9&10						-		c.1154G>A					AR
		8y	F	+	+	BM -cataract – nystagmus - squint			p.Arg385His
	F10/ P11&12	5y	F	+	+	BM – cataract - corneal scarring -retinal detachment with subretinal hemorrhagic effusion		ATOH7	NM_145178:	Missense	Hom	LP (PP3-PM2)	Not found	Persistent hyperplastic primary vitreous (PHPV)
									c.254C>T					AR
							-		p.Ala85Val
		3y	F	+	+				(Novel)
	F11/P13	13y	F	-	+	BM – microcornea – cataract – glaucoma		GJA8	NM_005267.5:	Missense	Het	P (PP1-PS2-PP3-PM2-PM5-PM1-PP2-PS3-PP5)	6.2E-07	Cataract 1, multiple types
							-		c.134G>C					AD
									p.Trp45Ser
	F12/	7y	F	-	+	BM - Rt iris coloboma -Lt morning glory syndrome	-	Negative					-	Isolated complex A/M With unidentifiable molecular cause
	P14 &15	5y	M	-	+	Lt M - Lt iris coloboma - Rt morning glory syndrome	-						-	?
	F13/P16	1y	M	+	-	Rt M - Rt Peters anomaly	-	Negative					-	Isolated complex A/M With unidentifiable molecular cause
														?
	F14/P17	3.5y	M	+	-	Rt M - Rt Peters anomaly - retroocular adhesions	-	Negative					-	Isolated complex A/M With unidentifiable molecular cause
														?
	F15/P18	2.5y	F	+	-	BM – microcornea -cataract -squint	-	Negative					-	Isolated complex A/M With unidentifiable molecular cause
														?
	F16/P19	3m	M	-	-	Rt M - persistent fetal vasculature	-	Negative					-	Isolated complex A/M With unidentifiable molecular cause
														?
	F17/P20	15y	F	-	-	BA	-	Negative					-	Simple A/M
														?
	F18/P21	1m	M	-	-	Lt M	-	Negative					-	Simple A/M
														?
Syndromic A/M cases	F19/P22	1d	F	-	-	BA	Esophageal atresia -	SOX2	NM_003106.4:	Missense	Het	VUS (PM2-PM1-PP3)	Not found	SOX2 Disorders
(n=19)							Fallot tetralogy		c.178G>C					AD
									p.Ala60Pro
									(Novel)
	F20/P23	16y	F	-	-	Lt A - Rt M - iris coloboma - chorio-retinal coloboma	GR – CHD -	CHD7	NM_017780.4:	Splicing	Het	LP (PS2-PM2-PS3-PP5)	0.000 ¶	CHARGE syndrome
							primary amenorrhea - absent uterus and ovaries		c.5405-17G>A					AD
									p.?
	F21/P24	6y	F	+	-	Rt M – sclerocornea - adherent central corneal leukoma - Lt total corneal leukoma – aniridia - PHPV	Severe psychomotor impairment – dysmorphic features - abnormal gait	HMX1	NM_018942.3:	Frameshift indel	Hom	LP (PVS1-PM2)	Not found	Oculo-auricular syndrome
									c.570_571del					AR
									p. Glu191Argfs*34
									(Novel)
	F22/P25	1m	F	+	-	BM	GR – GDD - sparse hair - hydrocephalus	DPH1	NM_001383.6:	Missense	Hom	P (PM3-PM2-PP3-PS3-PP1-PP5)	0.000496	Developmental delay with short stature, dysmorphic facial features, and sparse hair (DEDSSH)
									c.359T>C					AR
									p.Leu120Pro
	F23/P26	7m	F	+	-	BM - cataract	CHD - plagiocephaly	ZBTB11	NM_014415.4: c.1623+2T>G	Splicing	Hom	LP (PVS1-PM2)	6.224e-7 ¶¶	Intellectual developmental disorder, autosomal recessive 69; MRT69
							- agenesis of corpus callosum		p.?					AR
									(Novel)
	F24/P27	7d	M	+	+	BM	Congenital hydrocephalus -hypotonia	B3GALNT2	NM_152490.5:	Nonsense	Hom	P (PVS1-PM3-PM2-PP5)	Not found	Muscular dystrophy with brain and eye anomalies, type A, 11
									c.1338G>A					AR
									p.Trp446*
									(Novel)
	F25/P28	6m	F	+	+	Lt A - Rt severe M	Dysmorphic features - microcephaly - sparse eyebrows - contractures - hypoplastic nails - inverted nipples – Lt side accessory nipple	UBE3B	NM_130466.4:	Splicing	Hom	P (PVS1-PM3- PM2-PP5)	1.86E-06	Kaufman oculocerebrofacial syndrome
									c.1956+1G>A					AR
									p.?
	F26/P29	6m	F	+	-	Lt M & cryptophthalmia -	. Hypoplastic nares - nares coloboma - bilateral stenotic auditory meatus - syndactyly -	FRAS1	NM_025074.7:	frameshift indel	Hom	P (PVS1-PM3-PM2-PP5)	Not found ¶¶¶	Fraser syndrome 1
						Rt upper lid coloboma - sclercornea	ambiguous genitalia		c.2376del					AR
									p.Ser793Alafs*177
	F27/P30	16y	F	-	-	Lt M - Rt A	GR - facial asymmetry - short neck - Lt duplicated thumb – syndactyly -anteriorly placed anus - infantile uterus	Negative					-	CHARGE syndrome ?!
														?
	F28/P31	1y	M	+	-	Rt M - cataract	Right hemifacial hypoplasia - right microtia - pre-auricular skin tag - right maxillary and mandibular hypoplasia -right hypoplastic thumb	Negative					-	Oculo-auriculo-vertebral spectrum
														(OAVS) ?!
														?
	F29/P32	2m	F	-	-	BM - chorioretinal degeneration - optic nerve aplasia	Dysmorphic facial features – hypotonia - agenesis of the corpus callosum	Negative					-	Aicardi syndrome ?!
														?

	F30/P33	2.5y	M	-	-	BA	GDD – obesity -micropenis - undescended testicles	Negative					-	Macrocephaly-obesity-mental disability-ocular abnormalities syndrome (MOMO) ?!
														?
	F31/P34	7m	M	+	-	BM – nystagmus - Iris coloboma	Dysmorphic features – hydrocephalus -	Negative					-	????

F: family, P: patient, FH: family history, CL/P: cleft lip/palate, d: day, m: month, y: year, F: female, M: male, BM: bilateral microphthalmia, BA: Bilateral anophthalmia, CHD: congenital heart disease, MOI: mode of inheritance, Rt M: Right microphthalmia, Lt M: left microphthalmia Rt A: right anophthalmia, Lt A: left anophthalmia, PHPV: persistent hyperplastic primary vitreous, GR: growth retardation, GDD: global developmental delay, Het: heterozygous, Hom: homozygous, AR: Autosomal recessive, AD: Autosomal dominant, VUS: variant of uncertain significant. ¶ Reported by Legendre et al., 2018 [doi:10.1038/s41431-017-0007-0] ¶¶ Although this variant is observed at an extremely low frequency in the gnomAD v4.1.0 data set, it was absent from ClinVar and other databases analyzed and was not reported in the literature. ¶¶¶ The contrary applies to this variant which is ‘NOT found’ in gnomAD v4.1.0., although it is listed in ClinVar (Accession number: VCV001705727.3). The variant has been reported at least twice as pathogenic. It has been independently submitted to the database by two different clinical testing laboratories.