International Journal of Ophthalmic Pathology

Alwadani F, Int J Ophthalmic Pathol 2015, 4:1
http://dx.doi.org/10.4172/2324-8599.1000156
International Journal of
Ophthalmic Pathology
Case Report
A SCITECHNOL JOURNAL
Waardenburg syndrome (WS) type
1: A Case Report
Fahad Al wadani*
Departments of Ophthalmology, King Faisal University, Saudi Arabia
*Corresponding author: Fahad Al wadani, Department of Ophthalmology, King
Faisal University, Al Hofuf, Al Ahsa , Zip Code 31982, Saudi Arabia ; E-mail:
[email protected]
Rec date: Dec 01, 2014, Acc date: Feb 17, 2015, Pub date: Feb 24, 2015
Waardenburg syndrome (WS) type I is a non-progressive auditorypigmentary disorder comprising congenital sensorineural hearing loss
and pigmentary disturbances of the iris, hair, and skin, along with
dystopia canthorum (lateral displacement of the inner canthi).1,4-6.
Waardenburg syndrome affects all races and both sexes equally [1,7].It
affects around 1 in 42,000 of population accounting for 2-5% of
congenital deafness [7]. Iris hetrochromia is found in 21-28% of
individuals with Waaerdenburg syndrome [5] mainly type II [8].
In this paper we report on a new case of Waardenburg syndrome in
a Saudi male patient.
Case Report
Abstract
Waardenburg syndrome (WS) is a rare autosomal dominant
disorder characterized by congenital haring loss, dystonia
canthorum and hair and skin pigmentary disturbances.
Depending on additional symptoms, WS is classified into four
types which are WS1, WS2, WS3 and WS4. While WS1 and
WS3 are attributed to mutations in PAX3, WS2 is
heterogeneous, being caused by mutations in the
microphthalmia-associated transcription factor gene in some
but not all affected families. WS4 is attributed to mutations in
the endothelin-3 or the endothelin-B receptor genes and
SOX10 gene. Waardenburg syndrome (WS) type I is a nonprogressive
auditory-pigmentary
disorder
comprising
congenital sensorineural hearing loss and pigmentary
disturbances of the iris, hair, and skin, along with dystopia
canthorum (lateral displacement of the inner canthi). This paper
presents a case of 9 months old male child with WS type I,
which to best of the author’s knowledge is the first reported
case in the whole Eastern Province of Saudi Arabia.
A 9 months old boy presented to OPD with recurrent ocular
inflammation. The parents, who are non-consanguineous, also noted
abnormal color of the eye since birth. The prenatal natal and postnatal
history was unremarkable. The weight, height and head circumference
at birth and at presentation was normal. Screening for family history
including parents and close siblings revealed no abnormal findings.
The child face showed prominent broad nasal root and
blepharophimosisand dystopia canthorum (lateral displacement of
medial canthi) (Figure 1).
Case presentation: We present a 9 months old male child
which attended the regular clinic with features of Waardenburg
syndrome type I as dystonia canthorum, heterochromiairidis
and skin pigmentations anomalies.
Conclusion: Early recognition of Waardenberg syndrome is
important to decrease the incidence of associated
complications.
Introduction
Figure 1: Dystopia canthorum and broad nasal root.
Waardenberg syndrome is a rare genetic disorder characterized by
deafness in association with pigmentary anomalies and defects of
neural crest-derived tissues [1,2]. The syndrome was named after
Waardenburg [3], a Dutch ophthalmologist, who in 1951 described a
patient with lateral displacement of the medial canthi (dystopia
canthorum), dystopia of the lacrimal punctawith blepharophimosis,
broad nasal root and hypertrichosis of the medial part of the eyebrows,
white forelock, heterochromiairidis and deafmutism. Later, Depending
on additional symptoms, WS is classified into four types which are
WS1, WS2, WS3 and WS4. While WS1 and WS3 are attributed to
mutations in PAX3, WS2 is heterogeneous, being caused by mutations
in the microphthalmia-associated transcription factor gene in some
but not all affected families. WS4 is attributed to mutations in the
endothelin-3 or the endothelin-B receptor genes and SOX10 gene.
Child has patches of skin hypo pigmentation in the left arm with
sharply defined, irregular borders and with hyperpigmented islands
scattered throughout (Figure 2).
Ocular examination revealed bilateral + regurgitation test,
congested conjunctival vessels. Heterochromiairidis in the form of
sectorial hyper-pigmentation in the lower temporal area of the right
iris was evident (Figure 3). Fundus examination revealed no abnormal
findings. Cycloplegic refraction results were + 1.5 D bilaterally. Tests
for hearing showed Sensorineural hearing loss
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Citation:
Alwadani F (2015) Waardenburg syndrome (WS) type 1: A Case Report. Int J Ophthalmic Pathol 4:1.
doi:http://dx.doi.org/10.4172/2324-8599.1000156
hypertrichosis of the medial part of the eyebrows, white forelock,
heterochromiairidis and deafmutism). Patients with type II don't have
dystonia
canthorum.
Sensorineural
hearing
loss
and
hetrochromiairidis are the most important diagnostic features of this
type. Individuals with type III Waardenburg syndrome, also called
Klein-Waardenburg syndrome, have same features as type I in
addition to musculoskeletal abnormalities as aplasia of ribs and
abnormalities in the arm. Type IV of the syndrome (Shah –
Waardenburd syndrome) is associated with Hieschsprung disease
(agaloclonicmegacolon) [12]. In comparison to the other 3 types,
waardenburg syndrome type IV appears to have an autosoaml
recessive mode of inheritance [10].
Figure 2: Skin hypopigmented patches
Dystopia canthorum is the most prominent features of Wardenburg
syndrome. It has been recorded in 41.2-99% of the cases [1,2,5]. Other
ocular manifestations of Waardenburg syndrome are mainly
hetochromiairidis and fundus pigmentary abnormalities1. Pigmentary
changes of the iris observed in Waardemburg syndrome include
complete, partial or sectorial hetrochromia iridis [12].
Hetrochromiairidis occurs in 21-28% of patients with Waardenburg
syndrome [2,7]. Fundus changes are either diffuse hypo pigmentations
(albinnotic fundus) or peripheral hypopigmented motling 1. There are
records of patients with Waardenburg syndrome associated with
congenital cataract, anisometropic amblyopiaor glaucoma [2,13,14].
In addition to the eye, pigmentary alterations also affects, skin and
hair of patients with Waardenburg syndrome 1-3. Color abnormalities
of the skin are observed in 8.3-50% of patients. Hair abnormalities
include while forelock (17– 85.4%) and premature whitening of the
hair of the scalp, eye lashes, eye brows and body hair.
Genetic testing for confirmation of diagnosis is available; however,
diagnosis of Waardenburg syndrome is made clinically [11].
Case described in this report showed Dystopia canthorum
blepharophimosis and sectorial hetrochromiairidis, Sensorineural
hearing loss. No pigmentary disturbances of the fundus, increased
intraocular pressure or refractive errors were found. Child has patches
of skin hypo pigmentation in the left arm.
Figure 3: Iris hyperpigmentation of the right eye.
Discussion
Waardenburg syndrome is hereditary auditory pigmentary
syndrome with features characterized by abnormal melanocyte
differentiation [1,2]. The mode of inheritance is mostly autosomal
dominant10. In more than 90% of cases with Waardenburg syndrome
a mutation in the PAX3 gene located in chromosome band 2q35 was
found. This gene is involved in the process of regulation of
development of melanocytes.
The clinical manifestation of Waardenburg syndrome varies widely
even between patients in the same family [1,11]. There are 4
recognized types of Waardengurg syndrome [1,10] Type I
Waardenburg syndrome (originally described by Waardenburg) is
characterized by evidence of all 6 features of the disease (dystopia of
the lacrimal punctawith blepharophimosis, broad nasal root,
Volume 4 • Issue 1 • 1000156
As genetic studies to confirm the diagnosis were not available.
However, considering that the manifestations of Waardenburg
syndrome varies widely between patients, description of the findings
in our case coincides with characters of Waardengurgsyndrome type I.
Hearing loss, although a prominent feature of the syndrome, has been
observed in only 69% of type I and 78% of type II [7]. Also,
poliosiswerefound in our case.
The final diagnosis of Waardenburg syndrome type I is decided for
the patient, and regular follow up dates were determined.
Conclusion
To our knowledge we report the first case of Waardenburg
syndrome in eastern region of Saudi Arabia. Its case of waardenburg
syndrome type I with bilateral nasolacrimal duct obstruction. It is
important for ophthalmologists to recognize patients with
waardenburg syndrome as early diagnosis decreases the possibilities of
developing complications associated with it as deafness, glaucoma, and
amblyopia.
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Citation:
Alwadani F (2015) Waardenburg syndrome (WS) type 1: A Case Report. Int J Ophthalmic Pathol 4:1.
doi:http://dx.doi.org/10.4172/2324-8599.1000156
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