- Email: [email protected]
Evolution of focal choroidal excavation underlying combined hamartoma of the retina and retinal pigment epithelium in a child
Volume 19 Number 4 / August 2015 References 1. Pavlin CJ, Ritch R, Foster FS. Ultrasound biomicroscopy in plateau iris syndrome. Am J Ophthalmol 1992;113:390-95. 2. Cheng J, Buys YM, Spaeth GL. Confusion with the misuse of plateau iris terminology. J Glaucoma 2013;22:265-6. 3. Llinas A, Dorairaj S, Liebmann JM, Ritch R. Plateau iris syndrome in a child. Eye 2008;22:597-8. 4. Fivgas GD, Beck AD. Angle-closure glaucoma in a 10-year-old girl. Am J Ophthalmol 1997;124:251-3. 5. Appleby RS Jr, Kinder RS. Bilateral angle-closure glaucoma in a 14year-old boy. Arch Ophthalmol 1971;86:449-50. 6. Jones DE, Watson DM. Angle-closure glaucoma precipitated by the use of phospholine iodide for esotropia in a child. Br J Ophthalmol 1967;51:783-5. 7. Ritch R, Chang BM, Liebmann JM. Angle closure in younger patients. Ophthalmology 2003;110:1880-89. 8. Shields JA, Shields CL, Lois N, Mercado G. Iris cysts in children: classification, incidence, and management. The 1998 Torrence A Makley Jr Lecture. Br J Ophthalmol 1999;83:334-8. 9. Li Y, Wang YE, Huang G, et al. Prevalence and characteristics of plateau iris configuration among American Caucasian, American Chinese and mainland Chinese subjects. Br J Ophthalmol 2014;98:474-8. 10. Ng WT, Morgan W. Mechanisms and treatment of primary angle closure: a review. Clin Experiment Ophthalmol 2012;40:e218-28.
Evolution of focal choroidal excavation underlying combined hamartoma of the retina and retinal pigment epithelium in a child Meera D. Sivalingam, BS, Emil Anthony T. Say, MD, and Carol L. Shields, MD Combined hamartoma of the retina and retinal pigment epithelium (RPE) is a benign tumor seen mostly in children. Enhanced-depth imaging optical coherence tomography (OCT) of these tumors often shows an epiretinal membrane, tangential traction, disorganization of the retinal layers, and underlying uniform choroidal thinning. We describe the evolution over 9 years of focal choroidal excavation, a novel finding on OCT character-
Author affiliations: Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania Support provided by Eye Tumor Research Foundation, Philadelphia, PA (CLS). The funders had no role in the design and conduct of the study, in the collection, analysis and interpretation of the data, and in the preparation, review or approval of the manuscript. Carol L. Shields, MD, has had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Submitted January 2, 2015. Revision accepted March 2, 2015. Published online July 18, 2015. Correspondence: Carol L. Shields, MD, Ocular Oncology Service, 840 Walnut Street, Suite 1440, Philadelphia, PA 19107 (email: [email protected]). J AAPOS 2015;19:379-381. Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.03.016
Journal of AAPOS
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ized as a “microstaphyloma,” in a girl with combined hamartoma of the retina and RPE.
n 2006 Jampol and colleagues1 described a myopic patient with a peculiar finding on time domain optical coherence tomography (OCT), which showed unilateral cup-shaped depression of the subfoveal retinal pigment epithelium (RPE) and choroid with outward bowing. The overlying retina was flat and visual acuity was preserved. Margolis and colleagues2 later more precisely illustrated the enhanced-depth imaging spectral domain OCT (EDI-OCT) features of this “microstaphyloma” in 13 eyes and used the term focal choroidal excavation (FCE). They found this condition most often in eyes with mild myopia, manifesting as a yellow spot in the foveal region with EDI-OCT features of an abrupt cup-shaped RPE-choroidal depression with focal choroidal thinning. They noted 2 retinal patterns: in one, the retina appeared attached to the RPE (conforming); in the other, separated from the RPE (nonconforming). They suspected that conforming FCE might transform slowly into nonconforming FCE, but their follow-up was less than 1 year.2 Little is known about the cause of FCE, but a developmental origin has been hypothesized because most demonstrate no previous insult.1,2 However, secondary FCE has been associated with age-related macular degeneration, central serous chorioretinopathy, polypoidal choroidal vasculopathy, and Best disease.3-6 We report the evolution of conforming FCE by EDI-OCT from an undulation in the RPE to a focal cuplike excavation over 9 years in a child with combined hamartoma of the retina and RPE.
I
Case Report A 19-month-old girl was referred to the Ocular Oncology Service at Wills Eye Hospital for exotropia in the left eye that was first noticed by her mother at 9 months of age. On examination, visual acuity in each eye was central, steady, and maintained in the office, but parents reported a right eye preference. Intraocular pressure and anterior segment examination were normal in both eyes. Ultrasonography showed similar axial lengths in both eyes. Fundus examination of the right eye was normal. The left fundus showed a lightly pigmented epimacular membrane with retinal vascular dragging and slight gray retinal discoloration, consistent with combined hamartoma of the retina and RPE. A trial of patching of the right eye was advised. At 5 years of age, visual acuity was 20/20 in the right eye and 20/400 in the left eye. The hamartoma remained stable clinically and time domain OCT was first performed, revealing an undulating topography in the retina, RPE, choroid, and sclera, with dense epiretinal membrane, thickening and disorganization of all retinal layers, thin choroid, and subtle outward bowing of the RPE, choroid, and sclera. At 10 years of age, fundus examination and vision were stable and time domain OCT showed a smooth epiretinal membrane with retinal thickening and more
380
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Volume 19 Number 4 / August 2015
progressive outward bowing of the RPE, thin choroid, and sclera. At 14 years of age, fundus examination was still stable, but visual acuity was reduced to counting fingers in the left eye. EDI-OCT showed similar smooth epiretinal membrane with thickening, folding, and disorganization of inner retinal layers and a more prominent cup-shaped depression of the RPE, choroid, and sclera, with conforming retina, consistent with FCE (Figure 1). The patient manifested additional peripheral nonpigmented multifocal congenital hypertrophy of the RPE (polar bear tracks), cafe-au-lait spots on the abdomen, left upper eyelid, and left axilla, suspicious for neurofibromatosis type 2. Hearing test and brain magnetic resonance imaging were normal. The family declined genetic testing.
Discussion Combined hamartoma of the retina and RPE is a benign congenital tumor involving the vitreoretinal interface, neurosensory retina, and the RPE, commonly leading to profound vision reduction.7,8 This condition is generally unilateral but can be multifocal in patients with neurofibromatosis type 2 and is found in syndromes such as brachio-otic syndrome.8,9 EDI-OCT of this tumor demonstrates epiretinal membrane with antero-posterior or tangential traction, with disorganization of the inner retinal layers or all retinal layers. Arepalli and colleagues10 described EDI-OCT features of combined hamartoma of the retina and RPE in 8 cases and documented a characteristic sawtooth (mini-peak) pattern in 2 cases, retinal folding (maxi-peak) in 3 cases, and both patterns in 3 cases. All 8 cases noted inner retinal disorganization along with choroidal thinning and epiretinal membrane causing mini-peak and maxi-peak appearance of the inner retinal surface from differing degrees of traction.10 There was no case of outward bowing or FCE in that series. Little is known about the etiology or natural history of FCE. Our case provides information on the development of FCE over a 9-year period which began with topographical undulation of the retina, RPE, and choroid and evolved into slight outward bowing over 5 years and more prominent FCE at 9 years’ follow-up. Compared to published information on EDI-OCT of combined hamartomas, our case appears typical, with retinal folding and choroidal thinning.10 FCE has not been described in previous reports, and it is possible that our case could represent an exaggeration of focal choroidal thinning, while the horizontal traction from the epiretinal membrane could have caused the choroid to bow outward into FCE. Alternatively, it is plausible that FCE in the setting of combined hamartoma of the retina and RPE is a developmental abnormality that occurs after birth primarily because of the weaker RPE and thinner choroid beneath the tumor. This may have led to the slow and progressive outward bowing with age. Our case might represent the youngest patient with FCE as well as the longest follow-up, and continued monitoring for potential choroidal neovascularization will be provided.11
FIG 1. A, At 5 years of age there was a combined hamartoma of the retina and retinal pigment epithelium (RPE) with yellow macular choroidal thinning visible; this remained clinically unchanged. B, Time domain optical coherence tomography (OCT) showed an epiretinal membrane with disorganization of the retina. There was a fullthickness undulation of the retina, RPE, and choroid, which could represent movement artifact of slower acquisition time in a child, but the focal nature with lack of waviness elsewhere suggests this is a real observation. There was also slight posterior bowing and mild choroidal thinning (arrows). C, At 10 years of age OCT showed stable epiretinal membrane and disorganization of the retina, but focal choroidal thinning with slight excavation (arrows) was more apparent. D, At 14 years of age, enhanced depth imaging spectral domain OCT showed epiretinal membrane, disorganization and folding of inner retina and focal choroidal excavation with conforming retina (arrows). The sclera appeared to be thickened, abutting the choroidal thinning.
Journal of AAPOS
Volume 19 Number 4 / August 2015 References 1. Jampol LM, Shankle J, Schroeder R, Tornambe P, Spaide RF, Hee MR. Diagnostic and therapeutic challenges. Retina 2006;26:1072-6. 2. Margolis R, Mukkamala SK, Jampol LM, et al. The expanded spectrum of focal choroidal excavation. Arch Ophthalmol 2011;129:1320-25. 3. Parodi MB, Zucchiatti I, Fasce F, Bandello F. Bilateral choroidal excavation in best vitelliform macular dystrophy. Ophthalmic Surg Lasers Imaging Retina 2014;45:e8-10. 4. Lee CS, Woo SJ, Kim YK, et al. Clinical and spectral-domain optical coherence tomography findings in patients with focal choroidal excavation. Ophthalmology 2014;121:1029-35. 5. Ellabban AA, Tsujikawa A, Ooto S, et al. Focal choroidal excavation in eyes with central serous chorioretinopathy. Am J Ophthalmol 2013; 156:673-83. 6. Kuroda Y, Tsujikawa A, Ooto S, et al. Association of focal choroidal excavation with age-related macular degeneration. Invest Ophthalmol Vis Sci 2014;55:6046-54. 7. Gass JDM. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc 1973;71:171-83. 8. Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA. Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients: visual outcome based on macular versus extramacular tumor location. Ophthalmology 2008;115:2246-52. 9. Kadaba P, Arepalli S, Shields JA, Shields CL. Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome. J AAPOS 2014;18:201-3. 10. Arepalli S, Pellegrini M, Ferenczy SR, Shields CL. Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes. Retina 2014;34:2202-7. 11. Lee JH, Lee WK. Choroidal neovascularization associated with focal choroidal excavation. Am J Ophthalmol 2014;157:710-18.
Isolated ocular lichen planus in a child Estera Igras, MD, FRCOphth,a Susan Kennedy, MD,b Emma Jane MacDermott, MD,c and Conor C. Murphy, PhD, FRCOphtha,d Lichen planus (LP) is an autoimmune inflammatory condition of the skin and mucous membranes, of unknown aetiology, that infrequently involves the eye. Ocular LP has not been described in children. We present the case of an 8-year-old girl with severe, filamentous dry eyes and persistent conjunctival hyperemia with bilateral progressive conjunctival symblepharon. Her conjunctival
Author affiliations: Departments of aOphthalmology and bOphthalmic Pathology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland; cNational Centre for Paediatric Rheumatology, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland; dDepartment of Ophthalmology, Royal College of Surgeons in Ireland, Dublin, Ireland Submitted December 13, 2014. Revision accepted March 11, 2015. Published online July 23, 2015. Correspondence: Estera Igras, MD, FRCOphth, Department of Ophthalmology, Royal College of Surgeons in Ireland, Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin 2, Ireland (email: [email protected]). J AAPOS 2015;19:381-383. Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.03.019
Journal of AAPOS
Igras et al
381
biopsy showed heavy linear fibrinogen deposits along the basement membrane without IgG, IgA, IgM, or C3 deposition, consistent with LP. No skin or other mucosal lesions were present, suggesting a diagnosis of isolated conjunctival LP. Oral and topical cyclosporine combined with methotrexate and low-dose oral steroids led to sustained disease remission. To our knowledge, this is the first case of isolated ocular LP in a child.
Case Report
A
n 8-year-old girl presented to the Royal Victoria Eye and Ear Hospital, Dublin, with irritable, sore eyes and severe photophobia, with visual impairment of several months’ duration. There were no associated systemic symptoms and she had no past ocular history. On examination, her unaided visual acuity was 6/9 in both eyes. Examination showed a change in the contour of the upper lids caused by bilateral lacrimal gland swelling. Both eyes showed conjunctival hyperemia and extensive superficial punctate epithelial erosions (SPEEs) and filaments on the cornea. There were no other skin or mucosal lesions. She underwent a comprehensive work-up; blood tests were negative, including full blood count, renal and liver profile, serum angiotensin-converting enzyme, serum autoantibodies (c-ANCA, p-ANCA, rheumatoid factor, anti-Ro and anti-La antibodies). Magnetic resonance imaging showed bilateral diffuse lacrimal gland enlargement. Conjunctival and lacrimal gland biopsies revealed an extensive acute-on-chronic inflammatory and fibrotic process, with some vasculitis of the lacrimal gland and nonspecific inflammatory changes of the conjunctiva. She was diagnosed with possible juvenile-onset primary Sjogren syndrome. In addition to frequent topical lubricants (carmellose sodium 0.5% and Lacri-Lube ointment [Allergan Pharmaceuticals, Westport, Ireland] at night time) and topical steroids (preservative-free prednisolone sodium phosphate 0.5%), she was treated with oral prednisolone 15 mg once daily and received bilateral periorbital injections of triamcinolone acetonide 40 mg/ml in the region of the lacrimal glands. These measures provided temporary relief but her ocular symptoms recurred within 2 months after the oral prednisolone dose was reduced to 10 mg daily. A labial minor salivary gland biopsy performed in the evaluation for Sj€ ogren syndrome was normal. Given the strong suspicion for an autoimmune process, she was commenced on methotrexate 15 mg once weekly with folic acid 1 mg daily. She showed no response to this over the following 2 months and her eyes remained inflamed. She had now developed severe, filamentous dry eyes and persistent conjunctival hyperemia with bilateral progressive conjunctival symblepheron. She was unable to keep her eyes open for more than brief moments at a time; it was not possible to photograph her eyes. She was started on cyclosporine 0.05% eyedrops twice daily along with tafluprost nightly for mildly raised intraocular pressures. Her topical corticosteroid was increased temporarily to 6 times daily. Development of cicatricial
Evolution of focal choroidal excavation underlying combined hamartoma of the retina and retinal pigment epithelium in a child Meera D. Sivalingam, BS, Emil Anthony T. Say, MD, and Carol L. Shields, MD Combined hamartoma of the retina and retinal pigment epithelium (RPE) is a benign tumor seen mostly in children. Enhanced-depth imaging optical coherence tomography (OCT) of these tumors often shows an epiretinal membrane, tangential traction, disorganization of the retinal layers, and underlying uniform choroidal thinning. We describe the evolution over 9 years of focal choroidal excavation, a novel finding on OCT character-
Author affiliations: Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania Support provided by Eye Tumor Research Foundation, Philadelphia, PA (CLS). The funders had no role in the design and conduct of the study, in the collection, analysis and interpretation of the data, and in the preparation, review or approval of the manuscript. Carol L. Shields, MD, has had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Submitted January 2, 2015. Revision accepted March 2, 2015. Published online July 18, 2015. Correspondence: Carol L. Shields, MD, Ocular Oncology Service, 840 Walnut Street, Suite 1440, Philadelphia, PA 19107 (email: [email protected]). J AAPOS 2015;19:379-381. Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.03.016
Journal of AAPOS
Sivalingam, Say, and Shields
379
ized as a “microstaphyloma,” in a girl with combined hamartoma of the retina and RPE.
n 2006 Jampol and colleagues1 described a myopic patient with a peculiar finding on time domain optical coherence tomography (OCT), which showed unilateral cup-shaped depression of the subfoveal retinal pigment epithelium (RPE) and choroid with outward bowing. The overlying retina was flat and visual acuity was preserved. Margolis and colleagues2 later more precisely illustrated the enhanced-depth imaging spectral domain OCT (EDI-OCT) features of this “microstaphyloma” in 13 eyes and used the term focal choroidal excavation (FCE). They found this condition most often in eyes with mild myopia, manifesting as a yellow spot in the foveal region with EDI-OCT features of an abrupt cup-shaped RPE-choroidal depression with focal choroidal thinning. They noted 2 retinal patterns: in one, the retina appeared attached to the RPE (conforming); in the other, separated from the RPE (nonconforming). They suspected that conforming FCE might transform slowly into nonconforming FCE, but their follow-up was less than 1 year.2 Little is known about the cause of FCE, but a developmental origin has been hypothesized because most demonstrate no previous insult.1,2 However, secondary FCE has been associated with age-related macular degeneration, central serous chorioretinopathy, polypoidal choroidal vasculopathy, and Best disease.3-6 We report the evolution of conforming FCE by EDI-OCT from an undulation in the RPE to a focal cuplike excavation over 9 years in a child with combined hamartoma of the retina and RPE.
I
Case Report A 19-month-old girl was referred to the Ocular Oncology Service at Wills Eye Hospital for exotropia in the left eye that was first noticed by her mother at 9 months of age. On examination, visual acuity in each eye was central, steady, and maintained in the office, but parents reported a right eye preference. Intraocular pressure and anterior segment examination were normal in both eyes. Ultrasonography showed similar axial lengths in both eyes. Fundus examination of the right eye was normal. The left fundus showed a lightly pigmented epimacular membrane with retinal vascular dragging and slight gray retinal discoloration, consistent with combined hamartoma of the retina and RPE. A trial of patching of the right eye was advised. At 5 years of age, visual acuity was 20/20 in the right eye and 20/400 in the left eye. The hamartoma remained stable clinically and time domain OCT was first performed, revealing an undulating topography in the retina, RPE, choroid, and sclera, with dense epiretinal membrane, thickening and disorganization of all retinal layers, thin choroid, and subtle outward bowing of the RPE, choroid, and sclera. At 10 years of age, fundus examination and vision were stable and time domain OCT showed a smooth epiretinal membrane with retinal thickening and more
380
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Volume 19 Number 4 / August 2015
progressive outward bowing of the RPE, thin choroid, and sclera. At 14 years of age, fundus examination was still stable, but visual acuity was reduced to counting fingers in the left eye. EDI-OCT showed similar smooth epiretinal membrane with thickening, folding, and disorganization of inner retinal layers and a more prominent cup-shaped depression of the RPE, choroid, and sclera, with conforming retina, consistent with FCE (Figure 1). The patient manifested additional peripheral nonpigmented multifocal congenital hypertrophy of the RPE (polar bear tracks), cafe-au-lait spots on the abdomen, left upper eyelid, and left axilla, suspicious for neurofibromatosis type 2. Hearing test and brain magnetic resonance imaging were normal. The family declined genetic testing.
Discussion Combined hamartoma of the retina and RPE is a benign congenital tumor involving the vitreoretinal interface, neurosensory retina, and the RPE, commonly leading to profound vision reduction.7,8 This condition is generally unilateral but can be multifocal in patients with neurofibromatosis type 2 and is found in syndromes such as brachio-otic syndrome.8,9 EDI-OCT of this tumor demonstrates epiretinal membrane with antero-posterior or tangential traction, with disorganization of the inner retinal layers or all retinal layers. Arepalli and colleagues10 described EDI-OCT features of combined hamartoma of the retina and RPE in 8 cases and documented a characteristic sawtooth (mini-peak) pattern in 2 cases, retinal folding (maxi-peak) in 3 cases, and both patterns in 3 cases. All 8 cases noted inner retinal disorganization along with choroidal thinning and epiretinal membrane causing mini-peak and maxi-peak appearance of the inner retinal surface from differing degrees of traction.10 There was no case of outward bowing or FCE in that series. Little is known about the etiology or natural history of FCE. Our case provides information on the development of FCE over a 9-year period which began with topographical undulation of the retina, RPE, and choroid and evolved into slight outward bowing over 5 years and more prominent FCE at 9 years’ follow-up. Compared to published information on EDI-OCT of combined hamartomas, our case appears typical, with retinal folding and choroidal thinning.10 FCE has not been described in previous reports, and it is possible that our case could represent an exaggeration of focal choroidal thinning, while the horizontal traction from the epiretinal membrane could have caused the choroid to bow outward into FCE. Alternatively, it is plausible that FCE in the setting of combined hamartoma of the retina and RPE is a developmental abnormality that occurs after birth primarily because of the weaker RPE and thinner choroid beneath the tumor. This may have led to the slow and progressive outward bowing with age. Our case might represent the youngest patient with FCE as well as the longest follow-up, and continued monitoring for potential choroidal neovascularization will be provided.11
FIG 1. A, At 5 years of age there was a combined hamartoma of the retina and retinal pigment epithelium (RPE) with yellow macular choroidal thinning visible; this remained clinically unchanged. B, Time domain optical coherence tomography (OCT) showed an epiretinal membrane with disorganization of the retina. There was a fullthickness undulation of the retina, RPE, and choroid, which could represent movement artifact of slower acquisition time in a child, but the focal nature with lack of waviness elsewhere suggests this is a real observation. There was also slight posterior bowing and mild choroidal thinning (arrows). C, At 10 years of age OCT showed stable epiretinal membrane and disorganization of the retina, but focal choroidal thinning with slight excavation (arrows) was more apparent. D, At 14 years of age, enhanced depth imaging spectral domain OCT showed epiretinal membrane, disorganization and folding of inner retina and focal choroidal excavation with conforming retina (arrows). The sclera appeared to be thickened, abutting the choroidal thinning.
Journal of AAPOS
Volume 19 Number 4 / August 2015 References 1. Jampol LM, Shankle J, Schroeder R, Tornambe P, Spaide RF, Hee MR. Diagnostic and therapeutic challenges. Retina 2006;26:1072-6. 2. Margolis R, Mukkamala SK, Jampol LM, et al. The expanded spectrum of focal choroidal excavation. Arch Ophthalmol 2011;129:1320-25. 3. Parodi MB, Zucchiatti I, Fasce F, Bandello F. Bilateral choroidal excavation in best vitelliform macular dystrophy. Ophthalmic Surg Lasers Imaging Retina 2014;45:e8-10. 4. Lee CS, Woo SJ, Kim YK, et al. Clinical and spectral-domain optical coherence tomography findings in patients with focal choroidal excavation. Ophthalmology 2014;121:1029-35. 5. Ellabban AA, Tsujikawa A, Ooto S, et al. Focal choroidal excavation in eyes with central serous chorioretinopathy. Am J Ophthalmol 2013; 156:673-83. 6. Kuroda Y, Tsujikawa A, Ooto S, et al. Association of focal choroidal excavation with age-related macular degeneration. Invest Ophthalmol Vis Sci 2014;55:6046-54. 7. Gass JDM. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc 1973;71:171-83. 8. Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA. Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients: visual outcome based on macular versus extramacular tumor location. Ophthalmology 2008;115:2246-52. 9. Kadaba P, Arepalli S, Shields JA, Shields CL. Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome. J AAPOS 2014;18:201-3. 10. Arepalli S, Pellegrini M, Ferenczy SR, Shields CL. Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes. Retina 2014;34:2202-7. 11. Lee JH, Lee WK. Choroidal neovascularization associated with focal choroidal excavation. Am J Ophthalmol 2014;157:710-18.
Isolated ocular lichen planus in a child Estera Igras, MD, FRCOphth,a Susan Kennedy, MD,b Emma Jane MacDermott, MD,c and Conor C. Murphy, PhD, FRCOphtha,d Lichen planus (LP) is an autoimmune inflammatory condition of the skin and mucous membranes, of unknown aetiology, that infrequently involves the eye. Ocular LP has not been described in children. We present the case of an 8-year-old girl with severe, filamentous dry eyes and persistent conjunctival hyperemia with bilateral progressive conjunctival symblepharon. Her conjunctival
Author affiliations: Departments of aOphthalmology and bOphthalmic Pathology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland; cNational Centre for Paediatric Rheumatology, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland; dDepartment of Ophthalmology, Royal College of Surgeons in Ireland, Dublin, Ireland Submitted December 13, 2014. Revision accepted March 11, 2015. Published online July 23, 2015. Correspondence: Estera Igras, MD, FRCOphth, Department of Ophthalmology, Royal College of Surgeons in Ireland, Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin 2, Ireland (email: [email protected]). J AAPOS 2015;19:381-383. Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.03.019
Journal of AAPOS
Igras et al
381
biopsy showed heavy linear fibrinogen deposits along the basement membrane without IgG, IgA, IgM, or C3 deposition, consistent with LP. No skin or other mucosal lesions were present, suggesting a diagnosis of isolated conjunctival LP. Oral and topical cyclosporine combined with methotrexate and low-dose oral steroids led to sustained disease remission. To our knowledge, this is the first case of isolated ocular LP in a child.
Case Report
A
n 8-year-old girl presented to the Royal Victoria Eye and Ear Hospital, Dublin, with irritable, sore eyes and severe photophobia, with visual impairment of several months’ duration. There were no associated systemic symptoms and she had no past ocular history. On examination, her unaided visual acuity was 6/9 in both eyes. Examination showed a change in the contour of the upper lids caused by bilateral lacrimal gland swelling. Both eyes showed conjunctival hyperemia and extensive superficial punctate epithelial erosions (SPEEs) and filaments on the cornea. There were no other skin or mucosal lesions. She underwent a comprehensive work-up; blood tests were negative, including full blood count, renal and liver profile, serum angiotensin-converting enzyme, serum autoantibodies (c-ANCA, p-ANCA, rheumatoid factor, anti-Ro and anti-La antibodies). Magnetic resonance imaging showed bilateral diffuse lacrimal gland enlargement. Conjunctival and lacrimal gland biopsies revealed an extensive acute-on-chronic inflammatory and fibrotic process, with some vasculitis of the lacrimal gland and nonspecific inflammatory changes of the conjunctiva. She was diagnosed with possible juvenile-onset primary Sjogren syndrome. In addition to frequent topical lubricants (carmellose sodium 0.5% and Lacri-Lube ointment [Allergan Pharmaceuticals, Westport, Ireland] at night time) and topical steroids (preservative-free prednisolone sodium phosphate 0.5%), she was treated with oral prednisolone 15 mg once daily and received bilateral periorbital injections of triamcinolone acetonide 40 mg/ml in the region of the lacrimal glands. These measures provided temporary relief but her ocular symptoms recurred within 2 months after the oral prednisolone dose was reduced to 10 mg daily. A labial minor salivary gland biopsy performed in the evaluation for Sj€ ogren syndrome was normal. Given the strong suspicion for an autoimmune process, she was commenced on methotrexate 15 mg once weekly with folic acid 1 mg daily. She showed no response to this over the following 2 months and her eyes remained inflamed. She had now developed severe, filamentous dry eyes and persistent conjunctival hyperemia with bilateral progressive conjunctival symblepheron. She was unable to keep her eyes open for more than brief moments at a time; it was not possible to photograph her eyes. She was started on cyclosporine 0.05% eyedrops twice daily along with tafluprost nightly for mildly raised intraocular pressures. Her topical corticosteroid was increased temporarily to 6 times daily. Development of cicatricial