Case ReportBilateral Iris Mammillations in Amblyopic Eyes withoutOculodermal Melanocytosis or Neurofibromatosis

Megumi Yamamoto, TatsuyaMimura , Koichi Matsumoto, Shigeki Hamano,Hisataka Nanba, Shoko Ubukata, EmikoWatanabe, and Atsushi Mizota

Department of Ophthalmology, Teikyo University School of Medicine, Tokyo 173-8605, Japan

Correspondence should be addressed to Tatsuya Mimura; mimurat-tky@umin.ac.jp

Received 28 June 2018; Revised 25 August 2018; Accepted 4 September 2018; Published 29 October 2018

Academic Editor: Alexander A. Bialasiewicz

Copyright © 2018 Megumi Yamamoto et al. This is an open access article distributed under the Creative Commons AttributionLicense, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properlycited.

Purpose. Iris mammillations are related to oculodermal melanosis and iris nevi. We report a rare case of bilateral simple irismammillations without ocular melanosis or systemic neuronal disorders. Case Report. A healthy 10-year-old Japanese girl wasfound incidentally to have bilateral iris mammillations while being treated for amblyopia. The best-corrected visual acuity was20/40 in both eyes. Ocular examination showed evenly spaced, uniform-size, iris protrusions completely covering the iris surfacebilaterally.Therewere no other ocular or neurological abnormalities.Conclusion. To the best of our knowledge, this is the first reportof bilateral iris mammillations in Japan. Our case emphasizes that iris mammillations can occur evenwithout ocular melanocytosisor systemic diseases.

1. Introduction

Iris mammillation is an extremely rare ocular disorder inwhich small papilliform nodules are seen in part or theentire iris surface of one eye or both eyes [1]. These nodulesusually are located on the surface of a brown iris or oniris nevi. Iris mammillations are shaped like Lish nodulesthat are seen in patients with neurofibromatosis (NF). Thus,most of the iris nodules can be accompanied by NF typeI, phakomatosis pigmentovascularis (PPV) type IIb, andoculodermal melanocytosis [1–7]. Iris mammillations areseen more often in highly pigmented ethnic groups than inCaucasians or Asians [1, 8–11], and it has never been reportedin Japan. We report an extremely rare case of bilateral irismammillations without other ocular or neural abnormalitiesin a young Japanese patient.

2. Case Presentation

A 10-year-old Japanese girl was referred to our hospitalwith a six-year history of bilateral amblyopia. The patienthad undergone complete ophthalmological examinations andevaluations by many ophthalmologists at several medical

institutions because of her visual disorder since she was apreschooler. However, the cause of visual disturbance was notdetermined, and the patient was tentatively diagnosed withamblyopia or visual disturbances of psychogenic origin. Shewas examined regularly at 2 to 3 months’ intervals since thefirst evaluation. The patient had never been diagnosed withiris-related diseases such as iris nodules.

At the first examination at our hospital, her best-correctedvisual acuity (BCVA) was 20/40 in the right eye and 20/40in the left eye. The pupils were of equal size and there wasno afferent pupillary defect. Slit-lamp examination revealednumerous small iris nodules bilaterally (Figure 1). Extraocu-lar movements were full without nystagmus. The intraocularpressure was 12 mmHg in the right eye and 11 mmHg inthe left eye. The ophthalmoscopic findings of the retina werewithin the normal limits, and optical coherence tomographyshowed that the macula appeared normal in both eyes(Figure 2). Her family had no similar iris anomaly. Thevisual field determined byHumphrey program30-2 and colorvision test were within normal limits in both eyes.The patientwas prescribed spectacle correction of +0.25 -0.25 x130 in theright eye and +0.25 -0.25 x160 in the left eye to reduce the

HindawiCase Reports in Ophthalmological MedicineVolume 2018, Article ID 2534042, 5 pageshttps://doi.org/10.1155/2018/2534042

2 Case Reports in Ophthalmological Medicine

Right

Right

Le�

Le�

Figure 1: Slit-lamp photomicrographs of the anterior segment of both eyes at the first visit.

Right Le�

Red free Red freeColor Color

Figure 2: Fundus photographs and optical coherence tomographic image of both eyes.

risk of amblyopia. After 3 years of treatment, the BCVA hadimproved to 20/25 in the right eye and 20/20 in the left eye.During the treatment of amblyopia, neuronal complicationssuch as mental disease, neuropathy, and neurofibromatosiswere not observed.

3. Discussion

Iris mammillations are extremely rare and have never beenreported in a Japanese individual. A summary of the casereports regarding iris mammillations is presented in Table 1.

Case Reports in Ophthalmological Medicine 3

Table1:Mod

ified

tablefrom

Raggee

tal.(19

96)sum

marizingthec

aser

eportsof

irism

ammillations

[1].

No

Age/sex

Ethn

icorigin

Ocular

involvem

ent

Iris

involvem

ent

Melan

osis

oculi

Naevu

sOculard

isease

Other

disease

Journa

lYe

arAu

thor

18F

Caucasia

nU

PN

YMyopia

Non

eEye

1996

Ragge

28F

Hisp

anic

BT

NN

Highmyopia

CHD,cleftpalate,

marfano

idhabitus

Eye

1996

Ragge

39M

Hisp

anic

UP

YY

Esotropiaand

amblyopiaof

othere

yeSeizures

Eye

1996

Ragge

420M

Asia

n-Indian

BP

YN

Irishamartomas

Neurofib

romatosis

type

1Eye

1996

Ragge

57F

Hisp

anic

BST

NN

Opticneuritis

TBfro

ntalarachn

oid

cyst

Eye

1996

Ragge

610F

MiddleE

astern

BT

YN

Calcifiedciliary

body

mass

Mothera

lsohad

bilateraliris

elevations

Eye

1996

Ragge

75F

Hisp

anic

BT

YN

Con

genital

glaucoma

Phakom

atosis

pigm

entovascularis

IibEye

1996

Ragge

828M

Asia

n(In

dian)

BST

NN

Non

eNon

eEye

1996

Ragge

92M

N.A

frican

BT

YN

Non

eEc

topicM

ongolian

spot,preauric

ular

skin

tag,abno

rmalrib

Eye

1996

Ragge

108F

-U

TY

N

Choroidal

melanom

a,Re

tinal

detachment

Non

eArch

Oph

thalmol

2000

Gun

duz

111M

Caucasia

nB

-N

NNon

eNon

eJF

rOph

talm

ol2006

Kharrat

128M

Caucasia

nB

-N

NNon

eNon

eJF

rOph

talm

ol2006

Kharrat

135M

Caucasia

nU

-Y

NIpsilateral

ocular

melanocytosis

Non

eJF

rOph

talm

ol2006

Kharrat

149F

Turkler

BP

NN

Opticnerve

damage,

Persistent

pupillary

mem

brane

Non

eClin

ExpOptom

2007

Ozdam

ar

157F

Asia

n(M

alaysia

n)B

TN

NNon

e

Siblings,C

AH,

Clito

risacne,

Labioscrotal

hyperpigmentatio

n

BMJC

ase

Repo

rts

2010

Peym

an

167F

Asia

n(M

alaysia

n)B

TN

NNon

e

Siblings,C

AH,

Clito

risacne,

Labioscrotal

hyperpigmentatio

n

BMJC

ase

Repo

rts

2010

Peym

an

4 Case Reports in Ophthalmological Medicine

Table1:Con

tinued.

No

Age/sex

Ethn

icorigin

Ocular

involvem

ent

Iris

involvem

ent

Melan

osis

oculi

Naevu

sOculard

isease

Other

disease

Journa

lYe

arAu

thor

175M

Caucasia

nU

TY

NScleral

pigm

entatio

nNon

eArchSo

cEsp

Ofta

lmol

2014

Marug

anB

188F

Hisp

anic

BT

NN

Non

eNon

eArchSo

cEsp

Ofta

lmol

2014

Marug

anB

1916F

Caucasia

nB

TN

NNon

eNon

eArchSo

cEsp

Ofta

lmol

2014

Marug

anB

2022F

Hisp

anic

BP

YN

Eyelid

trichilemmom

aTw

ins,Cow

den

synd

rome

JAADCase

Repo

rts

2016

Suaiti

2122F

Hisp

anic

BP

YN

Eyelid

trichilemmom

aTw

ins,Cow

den

synd

rome

JAADCase

Repo

rts

2016

Suaiti

2212M

Hisp

anic

BST

YY

Mon

olateral

ocular

melanocytosis,

Glaucom

a,Ch

oroidal

haem

angiom

a

Sturge-W

eber

Synd

rome,naevus

flammeuso

fthe

face

Csse

Rep

Oph

thalmol

2017

Plateroti

2310F

Asia

n,(Ja

panese)

BT

NN

Amblyopia

Non

eCaseR

epOph

thalmol

Med

ThisCase

Yamam

oto,

Mim

ura

Age,years;M

,male;F,female;U,

unilateral;B,

bilateral;P,partial;T,total;ST,sub

total;Y,yes;N,n

o;CH

D,con

genitalh

eartdisease;CA

H,con

genitaladrenalhyperplasia

.

Case Reports in Ophthalmological Medicine 5

The differential diagnosis of iris mammillations is fromLisch nodules, iris nevi, iris melanoma, Brushfield flecks,retinoblastoma, and the Cogan-Reese (ICE) syndrome [1–7].In our patient, the shapes of the iris nodules were importantfor the diagnosis of irismammillations.This case indicates theimportance of suspecting a diagnosis of iris mammillationsin any patient presenting with a large number of uniform anddiffuse nodules that cover the entire surface of the iris.

Ragge et al. suggested that iris mammillations have beenconfused with Lisch nodules associated with NF1 whichwas previously known as von Recklinghausen disease [1, 2].Lisch nodules, also known as iris hamartoma, are irregularlyspaced, pigmented brown hamartomatous nodular aggre-gates of dendritic melanocytes [1, 6]. They are accompaniedby ocular hypertension or intraocular malignancy, and theyare also associated with external ocular manifestations suchas oculodermal melanosis [1, 6]. The iris nodules in our casewere protruding nodules and had the same color as those seenin dark brown irides. Furthermore, our patient had no sign ofocular melanocytosis. Thus, iris mammillations in our casecould be easily distinguished from Lisch nodules which arewell-defined dome-shaped nodules by slit-lamp examination[1].

In conclusion, this is the first report of bilateral irismammillations detected by chance in a child who was beingtreated for amblyopia in Japan. There may be still manypeople with this disorder without an accurate diagnosisbecause these patients are generally asymptomatic and maynot visit hospital. Ophthalmologists should be aware that irismammillations can occur independently of other manifes-tations such as dark pigmentation changes within the iris,melanosis, or systemic diseases.

Consent

Consent has been obtained.

Conflicts of Interest

The authors declare that there are no conflicts of interestregarding the publication of this article. The authors haveno commercial or proprietary interest in the product orcompany described in the current article.

Acknowledgments

This work was supported in part by a Grant-in-Aid forScientific Research from the Ministry of Education, Culture,Sports, Science and Technology of Japan (16K11332).

References

[1] N. K. Ragge, J. Acheson, and A. L. Murphree, “Iris mammilla-tions: significance and associations,”Eye, vol. 10, no. 1, pp. 86–91,1996.

[2] A. C. Gilliam, N. K. Ragge, M. I. Perez, and J. L. Bolognia,“Phakomatosis pigmentovascularis type IIb with iris mammil-lations,” JAMA Dermatology, vol. 129, no. 3, pp. 340–342, 1993.

[3] K. Gunduz, C. L. Shields, J. A. Shields, R. C. Eagle, andA. D. Singh, “Iris mammillations as the only sign of ocularmelanocytosis in a child with choroidal melanoma,” JAMAOphtalmology, vol. 118, no. 5, pp. 716-717, 2000.

[4] S. D. Ceuterick, J. J. Van Den Ende, and R. M. Smets, “Clinicaland genetic significance of unilateral Lisch nodules,” Bull SocBelge Ophtalmol, vol. 295, pp. 49–53, 2005.

[5] W. Kharrat, P. Dureau, C. Edelson, and G. Caputo, “Irismammillations: Three case reports,” Journal Francaisd’Ophtalmologie, vol. 29, no. 4, pp. 413–417, 2006.

[6] E. G. Adams, K. M. A. Stewart, O. A. Borges, and T. Darling,“Multiple, Unilateral Lisch Nodules in the Absence of OtherManifestations of Neurofibromatosis Type 1,” Case Reports inOphthalmological Medicine, vol. 2011, Article ID 854784, 2pages, 2011.

[7] B. SanchezMarugan,M.AcebesGarcıa, J. GarcıaHinojosa,M. J.Leon Cabello, and M. Casal Valino, “Iris mammillations. Threecase reports,” Archivos de la Sociedad Espanola de Oftalmologıa,vol. 89, no. 7, pp. 279–281, 2014.

[8] M. Peyman, M. J. Ong, T. Iqbal, and V. Subrayan, “Irismammillations in two female siblings with congenital adrenalhyperplasia.,” BMJ Case Reports, vol. 2010, 2010.

[9] L. Suaiti, A. Al-Haseni, H. Lee, and D. Sahni, “Iris mammilla-tions in a pair of twins with Cowden syndrome,” JAAD CaseReports, vol. 2, no. 4, pp. 323–325, 2016.

[10] A. M. Plateroti, R. Plateroti, R. Mollo, A. Librando, M. T. Con-testabile, and V. Fenicia, “Sturge-Weber Syndrome Associatedwith Monolateral Ocular Melanocytosis, Iris Mammillations,and Diffuse Choroidal Haemangioma,” Case Reports in Oph-thalmology, vol. 8, no. 2, pp. 375–384, 2017.

[11] A.M. Mansour and C. Shields, “Optical coherence tomographyof iris mammillations,” BMJ Case Reports, p. bcr-2018-226591.

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