Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

BMC Ophthalmology

Table 3 Syndromic diagnosis in patients with CVI

ID	Diagnosis*	GA	Contributing factors	Age at examination (months)	CVI previously reported	Evidence for genetic diagnosis	Gene
269	Aicardi syndrome	36	W	50	[33]	C
316	Aicardi syndrome	42	W	108	[33]	C
173	Aromatic decarboxylase deficiency	32		38	[34]	C,M
319	ATR- X	38		70		C,G	*ATRX*
55	CDG type 1a	41		22	[35, 36]	C,M
305	CDG type 1a	NA		25	[35, 36]	C,M
223	Citrullinaemia	NA		81		C,M
128	Coffin-Siris syndrome	41		84		C
43	Cohen syndrome	38		53		C
433	Complex I deficiency	NA		15	[37, 38]	C,M
378**	Complex I deficiency	40		35	[37, 38]	C,M
403	Complex II deficiency	41		46	[37]	C,M
5	Complex III deficiency	41	W	73		C,M
266	Complex I and III deficiency	NA		50		C,M
29	Complex II and III deficiency	42	S	48		C,M
175	D2-hydroxyglutaaraciduria	NA		20	[39–41]	C,M
425	Incontinentia Pigmenti	40	S, W	67	[42, 43]	C
184	Infantile neuroaxonal dystrophy	39		45	[44, 45]	C
325	Copper storage disorder	41		27	[46]	C,M
263	Lissencephaly	NA		38	[47]	C,G	DCX
231	Marden-Walker syndrome	35		79		C
17	Mowat- Wilson syndrome	41		34		C,G	*ZEB2*
215	Opitz C syndrome	NA		199		C
216	Pelizaeus-Merzbacher syndrome	38		27	[4]	C,G	PLP1
192	Pitt- Hopkins syndrome	40		35		C,G	*TCF4*
85	Pontocerebellar hypoplasia type 2 Triple X	36		30	[48]	C, C,G
238	Propion acidemia	36		117	[49]	C,M
78	Rett syndrome	36		23		C,G	MECP2
99	Rett syndrome	38		20	[50]	C,G	CDKL5
172	Rett syndrome	NA		14	[50]	C,G	CDKL5
364	Rett syndrome	NA		197	[51, 52]	C
341	Tuberous sclerosis	NA	Compression from tubers	179	[4]	C
41	Tuberous sclerosis	NA	Compression from tubers	165	[4]	C
348	Vanishing white matter	NA		28	[53]	C

*in an additional 33 individuals chromosomal aberrations were identified. **previously described in Morava et al. [54]. ATR-X syndrome = Alpha-Thalassemia X-linked intellectual disability syndrome, CDG = congenital disorder of glycosylation, C = clinical diagnosis, GA = gestational age, G = gene mutation, M = metabolic diagnosis, NA = not available, P = perinatal problems, S = stroke, W = West syndrome. The syndromes in the bold formatted rows are for the first time associated with CVI.

ISSN: 1471-2415