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Bilateral Iris Mammillations in Amblyopic Eyes without Oculodermal Melanocytosis or Neurofibromatosis.

1. Introduction

Iris mammillation is an extremely rare ocular disorder in which small papilliform nodules are seen in part or the entire iris surface of one eye or both eyes [1]. These nodules usually are located on the surface of a brown iris or on iris nevi. Iris mammillations are shaped like Lish nodules that are seen in patients with neurofibromatosis (NF). Thus, most of the iris nodules can be accompanied by NF type 1, phakomatosis pigmentovascularis (PPV) type IIb, and oculodermal melanocytosis [1-7]. Iris mammillations are seen more often in highly pigmented ethnic groups than in Caucasians or Asians [1,8-11], and it has never been reported in Japan. We report an extremely rare case of bilateral iris mammillations without other ocular or neural abnormalities in a young Japanese patient.

2. Case Presentation

A 10-year-old Japanese girl was referred to our hospital with a six-year history of bilateral amblyopia. The patient had undergone complete ophthalmological examinations and evaluations by many ophthalmologists at several medical institutions because of her visual disorder since she was a preschooler. However, the cause of visual disturbance was not determined, and the patient was tentatively diagnosed with amblyopia or visual disturbances of psychogenic origin. She was examined regularly at 2 to 3 months' intervals since the first evaluation. The patient had never been diagnosed with iris-related diseases such as iris nodules.

At the first examination at our hospital, her best-corrected visual acuity (BCVA) was 20/40 in the right eye and 20/40 in the left eye. The pupils were of equal size and there was no afferent pupillary defect. Slit-lamp examination revealed numerous small iris nodules bilaterally (Figure 1). Extraocular movements were full without nystagmus. The intraocular pressure was 12 mmHg in the right eye and 11 mmHg in the left eye. The ophthalmoscopic findings of the retina were within the normal limits, and optical coherence tomography showed that the macula appeared normal in both eyes (Figure 2). Her family had no similar iris anomaly. The visual field determined by Humphrey program 30-2 and color vision test were within normal limits in both eyes. The patient was prescribed spectacle correction of +0.25 -0.25 x130 in the right eye and +0.25 -0.25 x160 in the left eye to reduce the risk of amblyopia. After 3 years of treatment, the BCVA had improved to 20/25 in the right eye and 20/20 in the left eye. During the treatment of amblyopia, neuronal complications such as mental disease, neuropathy, and neurofibromatosis were not observed.

3. Discussion

Iris mammillations are extremely rare and have never been reported in a Japanese individual. A summary of the case reports regarding iris mammillations is presented in Table 1. The differential diagnosis of iris mammillations is from Lisch 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 important for the diagnosisof irismammillations. Thiscaseindicates the importance of suspecting a diagnosis of iris mammillations in any patient presenting with a large number of uniform and diffuse nodules that cover the entire surface of the iris.

Ragge et al. suggested that iris mammillations have been confused with Lisch nodules associated with NF1 which was previously known as von Recklinghausen disease [1, 2]. Lisch nodules, also known as iris hamartoma, are irregularly spaced, pigmented brown hamartomatous nodular aggregates of dendritic melanocytes [1, 6]. They are accompanied by ocular hypertension or intraocular malignancy, and they are also associated with external ocular manifestations such as oculodermal melanosis [1, 6]. The iris nodules in our case were protruding nodules and had the same color as those seen in dark brown irides. Furthermore, our patient had no sign of ocular melanocytosis. Thus, iris mammillations in our case could be easily distinguished from Lisch nodules which are well-defined dome-shaped nodules by slit-lamp examination [1].

In conclusion, this is the first report of bilateral iris mammillations detected by chance in a child who was being treated for amblyopia in Japan. There may be still many people with this disorder without an accurate diagnosis because these patients are generally asymptomatic and may not visit hospital. Ophthalmologists should be aware that iris mammillations can occur independently of other manifestations such as dark pigmentation changes within the iris, melanosis, or systemic diseases.


Consent has been obtained.

Conflicts of Interest

The authors declare that there are no conflicts of interest regarding the publication of this article. The authors have no commercial or proprietary interest in the product or company described in the current article.


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


[1] N. K. Ragge, J. Acheson, and A. L. Murphree, "Iris mammillations: 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 Ilb with iris mammillations," JAMA Dermatology, vol. 129, no. 3, pp. 340-342, 1993.

[3] K. Giinduz, C. L. Shields, J. A. Shields, R. C. Eagle, and A. D. Singh, "Iris mammillations as the only sign of ocular melanocytosis in a child with choroidal melanoma," JAMA Ophtalmology, vol. 118, no. 5, pp. 716-717, 2000.

[4] S. D. Ceuterick, J. J. Van Den Ende, and R. M. Smets, "Clinical and genetic significance of unilateral Lisch nodules," Bull Soc Belge Ophtalmol, vol. 295, pp. 49-53, 2005.

[5] W. Kharrat, P Dureau, C. Edelson, and G. Caputo, "Iris mammillations: Three case reports," Journal Frangais d'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 Other Manifestations of Neurofibromatosis Type 1," Case Reports in Ophthalmological Medicine, vol. 2011, Article ID 854784, 2 pages, 2011.

[7] B. Sanchez Marugan, M. Acebes Garcia, J. Garcia Hinojosa, M. J. Leon Cabello, and M. Casal Valino, "Iris mammillations. Three case reports," Archivos de la Sociedad Espanola de Oftalmologia, vol. 89, no. 7, pp. 279-281, 2014.

[8] M. Peyman, M. J. Ong, T. Iqbal, and V. Subrayan, "Iris mammillations in two female siblings with congenital adrenal hyperplasia.," BMJ Case Reports, vol. 2010,2010.

[9] L. Suaiti, A. Al-Haseni, H. Lee, and D. Sahni, "Iris mammillations in a pair of twins with Cowden syndrome," JAAD Case Reports, vol. 2, no. 4, pp. 323-325, 2016.

[10] A. M. Plateroti, R. Plateroti, R. Mollo, A. Librando, M. T. Contestabile, and V. Fenicia, "Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma," Case Reports in Ophthalmology, vol. 8, no. 2, pp. 375-384, 2017

[11] A. M. Mansour and C. Shields, "Optical coherence tomography of iris mammillations," BMJ Case Reports, p. bcr-2018-226591.

Megumi Yamamoto, Tatsuya Mimura [ID], Koichi Matsumoto, Shigeki Hamano, Hisataka Nanba, Shoko Ubukata, Emiko Watanabe, and Atsushi Mizota [ID]

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

Correspondence should be addressed to Tatsuya Mimura;

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

Academic Editor: Alexander A. Bialasiewicz

Caption: FIGURE 1: Slit-lamp photomicrographs of the anterior segment ofboth eyes at the first visit.

Caption: FIGURE 2: Fundus photographs and optical coherence tomographic image ofboth eyes.
TABLE 1: Modified table from Ragge et al. (1996)
summarizing the case reports of iris mammillations [1].

No   Age/sex     Ethnic origin     Ocular involvement

1      8F          Caucasian               U
2      8F          Hispanic                B
3      9M          Hispanic                U
4      20M       Asian-Indian              B
5      7F          Hispanic                B
6      10F      Middle Eastern             B
7      5F          Hispanic                B
8      28M      Asian (Indian)             B
9      2M         N. African               B
10     8F             --                   U
11     1M          Caucasian               B
12     8M          Caucasian               B
13     5M          Caucasian               U
14     9F          Tiirkler                B
15     7F      Asian (Malaysian)           B
16     7F      Asian (Malaysian)           B
17     5M          Caucasian               U
18     8F          Hispanic                B
19     16F         Caucasian               B
20     22F         Hispanic                B
21     22F         Hispanic                B
22     12M         Hispanic                B
23     10F     Asian, (Japanese)           B

No   Iris involvement   Melanosis oculi   Naevus

1           P                  N            Y
2           T                  N            N
3           P                  Y            Y
4           P                  Y            N
5           ST                 N            N
6           T                  Y            N
7           T                  Y            N
8           ST                 N            N
9           T                  Y            N
10          T                  Y            N
11          --                 N            N
12          --                 N            N
13          --                 Y            N
14          P                  N            N
15          T                  N            N
16          T                  N            N
17          T                  Y            N
18          T                  N            N
19          T                  N            N
20          P                  Y            N
21          P                  Y            N
22          ST                 Y            Y
23          T                  N            N

No             Ocular disease

1                  Myopia
2               High myopia
3         Esotropia and amblyopia
                of other eye
4             Iris hamartomas
5              Optic neuritis
6       Calcified ciliary body mass
7           Congenital glaucoma
8                   None
9                   None
10          Choroidal melanoma,
             Retinal detachment
11                  None
12                  None
13    Ipsilateral ocular melanocytosis
14          Optic nerve damage,
       Persistent pupillary membrane
15                  None
16                  None
17          Scleral pigmentation
18                  None
19                  None
20          Eyelid trichilemmoma
21          Eyelid trichilemmoma
22   Monolateral ocular melanocytosis,
      Glaucoma, Choroidal haemangioma
23               Amblyopia

No            Other disease                   Journal

1                 None                          Eye
2          CHD, cleft palate,                   Eye
            marfanoid habitus
3               Seizures                        Eye
4       Neurofibromatosis type 1                Eye
5       TB frontal arachnoid cyst               Eye
6       Mother also had bilateral               Eye
             iris elevations
7         Phakomatosis pigment                  Eye
8                 None                          Eye
9        Ectopic Mongolian spot,                Eye
         skin tag, abnormal rib
10                None                    Arch Ophthalmol
11                None                    J Fr Ophtalmol
12                None                    J Fr Ophtalmol
13                None                    J Fr Ophtalmol
14                None                    Clin Exp Optom
15    Siblings, CAH, Clitoris acne,      BMJ Case Reports
     Labioscrotal hyperpigmentation
16    Siblings, CAH, Clitoris acne,      BMJ Case Reports
     Labioscrotal hyperpigmentation
17                None                 Arch Soc Esp Oftalmol
18                None                 Arch Soc Esp Oftalmol
19                None                 Arch Soc Esp Oftalmol
20       Twins, Cowden syndrome          JAAD Case Reports
21       Twins, Cowden syndrome          JAAD Case Reports
22    Sturge-Weber Syndrome, naevus     Csse Rep Ophthalmol
          flammeus of the face
23                None                  Case Rep Ophthalmol

No     Year           Author

1      1996           Ragge
2      1996           Ragge
3      1996           Ragge
4      1996           Ragge
5      1996           Ragge
6      1996           Ragge
7      1996           Ragge
8      1996           Ragge
9      1996           Ragge
10     2000          Giinduz
11     2006          Kharrat
12     2006          Kharrat
13     2006          Kharrat
14     2007          Ozdamar
15     2010           Peyman
16     2010           Peyman
17     2014         Marugan B
18     2014         Marugan B
19     2014         Marugan B
20     2016           Suaiti
21     2016           Suaiti
22     2017         Plateroti

23   This Case   Yamamoto, Mimura


Age, years; M, male; F, female; U, unilateral;
B, bilateral; P, partial; T, total; ST, subtotal;
Y, yes; N, no; CHD, congenital heart disease;
CAH, congenital adrenal hyperplasia.
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Title Annotation:Case Report
Author:Yamamoto, Megumi; Mimura, Tatsuya; Matsumoto, Koichi; Hamano, Shigeki; Nanba, Hisataka; Ubukata, Sho
Publication:Case Reports in Ophthalmological Medicine
Date:Jan 1, 2018
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