Purpose: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. Methods: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. Results: Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3–22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8–35). The best-corrected visual acuity ranged from counting fingers to 20/50. Conclusions: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.

1.
Barrett
TG
,
Bundey
SE
.
Wolfram (DIDMOAD) syndrome
.
J Med Genet
.
1997
Oct
;
34
(
10
):
838
41
.
[PubMed]
0022-2593
2.
Rigoli
L
,
Lombardo
F
,
Di Bella
C
.
Wolfram syndrome and WFS1 gene
.
Clin Genet
.
2011
Feb
;
79
(
2
):
103
17
.
[PubMed]
0009-9163
3.
Moço
C
,
Silva
M
,
Lopes
A
,
Moreira
A
.
Síndrome de Wolfram (DIDMOAD)— Um Caso Clínico
.
Acta Pediatr. Port
.
1999
;
30
(
4
):
331
3
.
4.
Ari
S
,
Keklíkçí
U
,
Caça
I
,
Unlü
K
,
Kayabaşi
H
.
Wolfram syndrome: case report and review of the literature
.
Compr Ther
.
2007
;
33
(
1
):
18
20
.
[PubMed]
0098-8243
5.
Barrett
TG
,
Bundey
SE
,
Macleod
AF
.
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
.
Lancet
.
1995
Dec
;
346
(
8988
):
1458
63
.
[PubMed]
0140-6736
6.
Urano
F
.
Wolfram Syndrome: Diagnosis, Management, and Treatment
.
Curr Diab Rep
.
2016
Jan
;
16
(
1
):
6
.
[PubMed]
1534-4827
7.
Ribeiro
MR
,
Crispim
F
,
Vendramini
MF
,
Moisés
RS
.
Síndrome de Wolfram: da definição às bases moleculares
.
Arq Bras Endocrinol Metabol
.
2006
Oct
;
50
(
5
):
839
44
.
[PubMed]
0004-2730
8.
Cryns
K
,
Sivakumaran
TA
,
Van den Ouweland
JM
,
Pennings
RJ
,
Cremers
CW
,
Flothmann
K
, et al
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
.
Hum Mutat
.
2003
Oct
;
22
(
4
):
275
87
.
[PubMed]
1059-7794
9.
Maleki
N
,
Bashardoust
B
,
Zakeri
A
,
Salehifar
A
,
Tavosi
Z
.
Diabetes mellitus, DI, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome
.
J Curr Ophthalmol
.
2015
;
27
(
3-4
):
133
5
. 2452-2325
10.
Gutch
M
,
Sahani
KK
,
Bhattacharjee
A
,
Kumar
S
,
Shakya
S
.
Wolfram syndrome: A rare mimic of type 1 diabetes mellitus
.
Chrismed J Health Res
.
2016
;
3
(
3
):
229
31
.
11.
Naderian
G
,
Ashtari
F
,
Nouri-Mahdavi
K
,
Sajjadi
V
.
A case of wolfram syndrome
.
J Ophthalmic Vis Res
.
2010
Jan
;
5
(
1
):
53
6
.
[PubMed]
2008-2010
12.
Saran
S
,
Philip
R
,
Patidar
P
,
Gutch
M
,
Agroiya
P
,
Agarwal
P
, et al
Atypical presentations of Wolframs syndrome
.
Indian J Endocrinol Metab
.
2012
Dec
;
16
Suppl 2
:
S504
5
.
[PubMed]
2230-8210
13.
Hasan
MA
,
Hazza
I
,
Najada
A
.
Wolfram’s (DIDMOAD)
.
Saudi J Kidney Dis Transpl
.
2000
Jan-Mar
;
11
(
1
):
53
8
.
[PubMed]
1319-2442
14.
Philip
R
,
Patidar
PP
,
Agarwal
P
,
Gupta
KK
.
A young diabetic with suicidal risk: rare disease with a rarer presentation
.
Indian J Endocrinol Metab
.
2013
Sep
;
17
(
5
):
920
1
.
[PubMed]
2230-8210
15.
Ganie
MA
,
Bhat
D
.
Current developments in Wolfram syndrome
.
J Pediatr Endocrinol Metab
.
2009
Jan
;
22
(
1
):
3
10
.
[PubMed]
0334-018X
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