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Familial Iris Melanosis-A Misnomer? 291 Br J Ophthalmol: first published as 10.1136/bjo.73.4.289 on 1 April 1989. Downloaded from British Journal of Ophthalmology, 1989, 73, 289-293 Familial iris melanosis -a misnomer? BRIAN C JOONDEPH AND MORTON F GOLDBERG From the Department of Ophthalmology, Eye and Ear Infirmary, University ofIllinois College ofMedicine at Chicago, USA SUMMARY Iris melanosis is an unusual condition characterised by the presence of minute, discrete, pigmented elevations arising from the anterior surface of the iris. We encountered two unrelated Mexican families in which all children, but no parent, had varying degrees of the condition bilaterally. Some family members also gave findings suggestive of ocular hypertension. No family member had any other ocular or cutaneous pigmentary changes with the exception of a hairy naevus on the thigh of one member. To our knowledge these are the first families reported with more than one member having isolated iris melanosis. This is also the first report of a possible relationship with ocular hypertension. Finally we suggest that the term 'melanosis' may be a misnomer, since the condition is characterised not by abnormal iris hyperpigmentation but by discrete, round elevations on the anterior iris surface. Iris melanosis is an unusual condition characterised manifest refraction, slit-lamp examination of the by minute, discrete, pigmented elevations arising anterior segment, Goldmann applanation tono- from the anterior surface of the iris.`6 Although it metry, slit-lamp gonioscopy (family A only), and usually is unilateral, a bilateral case was recently dilated fundus examination. Goldmann visual fields http://bjo.bmj.com/ described.4 The entire iris surface or just a sector may were performed on three of the children in family A be involved. Iris melanosis, as opposed to the more (patients 11-3, 11-4, and 11-6). In addition home generalised ocular melanosis, is not associated with tonometry was performed on these three patients any other ocular, cutaneous, or systemic abnor- using a self-tonometer as described elsewhere.7 malities. While most cases of generalised ocular Tonometry readings were obtained on three to nine melanosis are sporadic, an autosomal dominant separate days during a one-month period, with three mode of inheritance has been suggested.' random measurements performed on each day on October 1, 2021 by guest. Protected copyright. We present here what is to our knowledge the first (Table 2). Finally, a detailed history regarding skin two family pedigrees for iris melanosis, as well as the lesions or systemic diseases was obtained. first report of a possible association with ocular hypertension. Material and methods I * 1 2 Our study is based on two families in which iris 1 melanosis was present in all children but in none of I -I- I a the parents. Both families were Mexican but were from different parts of Mexico and were unrelated to I1 each other (Figs. 1, 2). Each of the family members 4 underwent a complete ophthalmic examination (Tables 1, 3), including best corrected visual acuity, * * Iris Melanosis Correspondence to Morton F Goldberg, MD, Wilmer Ophthalmo- * examined logical Institute, Johns Hopkins Hospital, Baltimore, Maryland Fig. 1 Pedigree offamily A. Squares indicate male 21205, USA. members; circles indicatefemale members. 289 Br J Ophthalmol: first published as 10.1136/bjo.73.4.289 on 1 April 1989. Downloaded from 290 Brian CJoondeph and Morton F Goldberg Table 2 Home tonometry measurements in family A Patient Number ofdays Maximum lOP (mmHg) tested OD Os 11-3 9 24 25 11-4 7 27 26 11-6 3 20 22 2 11-6, who both had prominent iris processes. None of * Iris Melanosis the patients had abnormal angle pigmentation or * examined angle maldevelopment. Slit-lamp examination disclosed no abnormal 0 deceased eyelid, conjunctival, fundus, or scleral pigmentation Fig. 2 Pedigree offamily B. Squares indicate male in any of the family members. The irides of the members; circles indicate female members. children were brown and contained minute, discrete, pigmented elevations on the anterior surface (Figs. 3, 4). The extent of involvement varied from as many as Results 30 to 40 excrescences per clock hour of iris (Fig. 3) to as few as one to five per clock hour (Fig. 4). These FAMILY A excrescences tended to be more concentrated on the Family A comprised six siblings (two males, four midperipheral and inferior portions of the iris (Table females) ranging in age from 13 to 27 years (Table 1). 1). The disease was bilateral and symmetrical. The Both parents were Mexican, and there was no known mother's irides were brownish green and had no consanguinity. Best corrected visual acuity was 20/20 pigmented elevations (Fig. 5). The father's irides in all family members, with plano, myopic, or mixed were brown, with a smooth anterior surface. Two flat astigmatic refractive errors. Applanation tonometry iris freckles, with a smooth anterior surface, were revealed intraocular pressures of20 mmHg or greater noted (Fig. 6). in three children (patients 11-3, 11-4, and II-6). These Fundus examination disclosed no abnormal patients then underwent home tonometry, which choroidal pigmentation. Cup-to-disc ratios were revealed abnormal pressure elevations in patients within normal limits except for patient 11-6, who http://bjo.bmj.com/ 11-3 and 11-4 (Table 2). Patient 11-4 had a maximum had a moderate amount of asymmetry (Table 1). intraocular pressure of 27 mmHg OD and 26 mmHg Goldmann visual fields were full in those family OS, while patient 11-3 had maximum pressures of 24 members tested (patients 11-3, 11-4, and 11-6). mmHg OD and 25 mmHg OS. Slit-lamp gonioscopy No family member had any known abnormal skin gave normal results except for the father and patient pigmentation. on October 1, 2021 by guest. Protected copyright. Table 1 Ocularfindings in family A Patientlage Visual acuity Refraction lOP Gonioscopy Iris involvement Other (yr)lsex (OU) (mmHg) II-1/27/F 20/20 Piano OU 17 OU Normal Moderate, midperipheral, C/D 0-30 OU more inferiorly OU II-2/23/F 20/20 Plano OU 18 OU Normal Mild, midperipheral OU C/D 0-30 OD, 0-25 OS II-3/21/M 20/20 -3-50+0 50x900 OD 24 OD Normal Mild, inferiorly only OU C/D 0 30 OU, full GVF -2-25+0-25x 105° OS 22 OS II-4/19/M 20/20 Plano OU 20 OU Normal Moderate, midperipheral C/D 0 30 OU, full GVF OU 11-5/18/F 20/20 -1-75 sphere OU 18 OU Normal Mild, midperipheral, more C/D 0-20 OU inferiorly OU 11-6/13/F 20/20 -2*25+2*25x900 OD 22 OD Prominent iris Extensive, entire anterior C/D 0-25 OD, 0-50 OS; -3-50+2-50x90° OS 20 OS processes OU surface OU full GVF 1-2/48/F 20/20 -0-75 sphere OU 18 OU Normal None Breast carcinoma metastatic to choroid I-1/54/M 20/20 -0-50 sphere OD 18 OU Prominent iris 2 Brown freckles, no discrete -0-75+0-50x80' OS processes OU elevations OU=both eyes. IOP=intraocular pressure. OD=right eye. OS=left eye. C/D=cup-to-disc ratio. GVF=Goldmann visual fields. Br J Ophthalmol: first published as 10.1136/bjo.73.4.289 on 1 April 1989. Downloaded from Familial iris melanosis-a misnomer? 291 M--~W_~ ~ ~~ A __ Fig. 3 Iris ofpatient II-6 (family A) showing numerous Fig. 4 Iris ofpatient II-4 (family A) showingfewer iris minute, discrete, pigmented elevations on the anterior excrescences than his sister (Fig. 3). They tend to be more surface. concentrated on the midperipheral and inferior iris. FAMILY B Fundus examination revealed no abnormal Family B comprised two children, a boy aged 13 years pigmentation and a normal cup-to-disc ratio. Patient and a girl aged 8 years (Table 3). Both parents were 11-1 had a hairy naevus on his left thigh. Mexican, and there was no known consanguinity. The father was deceased. Best corrected visual acuity Discussion was 20/25 or better, with myopic or mixed astigmatic refractive errors, in all family members. Applana- Melanosis of the eye (melanosis oculi) refers to tion tonometry revealed normal intraocular increased pigmentation of the iris, ciliary body, and pressures. choroid, as well as the sclera, conjunctiva, and optic Slit-lamp examination disclosed no abnormal disc.' It may exist in two forms, either congenital or eyelid, conjunctival, scleral, or fundus pigmentation acquired. Iris melanosis was first described by Coats in any family members. The irides of the children in 1912 as a unilateral iris condition in which the were brown and contained minute, discrete, pig- iris 'anterior surface is sown all over with minute, http://bjo.bmj.com/ mented elevations of the anterior surface. Patient discrete, hemispherical, pigmented prominences, II-1 had extensive involvement of the entire mid- arranged quite regularly, the appearance being peripheral iris with 20 to 30 excrescences per clock comparable with "goose-skin" or the surface of a golf hour of iris (Fig. 7), while his sister (patient 11-2) had ball'. He found an otherwise normal function of the only a few excrescences along the inferior mid- eye, including visual acuity and pupillary reactions. peripheral iris. Involvement was bilateral and He believed the condition to be non-progressive, symmetrical. The mother's irides were brown with a though the more generalised ocular melanosis on October 1, 2021 by guest. Protected copyright. smooth anterior surface. may be associated with an increased risk of uveal Fig. 5 Mother oJjamily A (patient 1-2). She has greenish Fig. 6 Father offamily A (patient 1-1).
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