86
Lim Fat et al
Volume 18 Number 1 / February 2014
between the strabismus surgeon and the physician prescribing anticoagulation is important. Patients must also be fully informed about the risks and benefits associated with surgery.
2.
3.
Literature Search PubMed was searched, without language or date restriction, using the following terms: strabismus, warfarin, and anticoagulants. References 1. Katz J, Feldman MA, Bass EB, et al. Study of Medical Testing for Cataract Surgery Team. Risks and benefits of anticoagulant and antiplatelet
4. 5. 6. 7.
medication use before cataract surgery. Ophthalmology 2003;110: 1784-8. Rotenstreich Y, Rubowitz A, Segev F, Jaeger-Roshu S, Assia EI. Effect of warfarin therapy on bleeding during cataract surgery. J Cataract Refract Surg 2001;27:1344-6. Ong-Tone L, Paluck EC, Hart-Mitchell RD. Perioperative use of warfarin and aspirin in cataract surgery by Canadian Society of Cataract and Refractive Surgery members: survey. J Cataract Refract Surg 2005;31:991-6. Custer PL, Trinkaus KM. Hemorrhagic complications of oculoplastic surgery. Ophthal Plast Reconstr Surg 2002;18:409-15. Oh J, Smiddy WE, Kim SS. Antiplatelet and anticoagulation therapy in vitreoretinal surgery. Am J Ophthalmol 2011;151:934-9. Ares C, Superstein R. Retrobulbar hemorrhage following strabismus surgery. J AAPOS 2006;10:594-5. Todd B, Sullivan TJ, Gole GA. Delayed orbital hemorrhage after routine strabismus surgery. Am J Ophthalmol 2001;131:818-19.
Coats disease in a 3-week-old boy Charles P. Lim Fat, MBBS, FRCOphth,a Sam Yuen Sum Lee, BSc, MbChB,b Marie-Anne Brundler, MD,c Christopher M. Scott, FRCOphth,a and Manoj V. Parulekar, MS, FRCSc
Coats disease is a rare, idiopathic retinal vasculopathy that predominantly affects males in the first decade of life. We report the case of a 3-week-old boy who presented with atypical rapidly progressing disease suggestive of Coats exudative vasculopathy. The eye developed retinal fibrosis and phthisis bulbi within 4 weeks. Retinoblastoma could not be ruled out, although histopathology after enucleation revealed no retinoblastoma. To our knowledge, this is the youngest case of Coats disease to be reported in the literature. This case highlights the wide variation in the clinical presentation of Coats disease and the difficulty in differentiating it from diffuse infiltrative retinoblastoma.
Case Report
A
3-week-old boy presented at the Birmingham Children’s Hospital with an abnormal red reflex in the left eye, noted on photographs at birth (Figure 1), and a gradual change in iris color since birth. He was born at term following an uneventful pregnancy and birth and was otherwise healthy. Family history was unremarkable. On examination, the left eye had extensive ec-
Author affiliations: aRoyal Aberdeen Children’s Hospital, Aberdeen, United Kingdom; b University Hospitals Birmingham, Edgbaston, Birmingham, United Kingdom; c Birmingham Children’s Hospital, Birmingham, United Kingdom Submitted July 16, 2013. Revision accepted August 31, 2013. Correspondence: Manoj V. Parulekar, MS, FRCS, Consultant Paediatric Ophthalmologist, Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, West Midlands B4 6NH, United Kingdom (email: [email protected]). J AAPOS 2014;18:86-88. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.08.013
FIG 1. External photograph of the left eye on day 3 after birth showing ectropion uveae and abnormal pupillary reflex.
tropion uveae, iris vessel engorgement, a fixed dilated pupil, and a total retinal detachment. The right eye was normal. Examination under anesthesia confirmed total retinal detachment, pale yellow subretinal exudates, and dilated vessels in the retinal periphery (Figure 2A). On B-scan ultrasonography, no intraocular mass or calcification was apparent (Figure 2B). The patient was provisionally diagnosed with Coats-like exudative vasculopathy; treatment was deferred in favor of close observation. Within 4 weeks the left eye developed retinal fibrosis and phthisis. Although the appearance was highly suggestive of Coats disease, the unusually early onset and rapid progression made it difficult to rule out diffuse infiltrative retinoblastoma. In view of the poor visual prognosis, pthisis, and slight uncertainty over diagnosis, the left eye was enucleated when the child was 10 weeks old. Histopathological examination confirmed total retinal detachment, with disorganized retina, focal vacuolar
Journal of AAPOS
Volume 18 Number 1 / February 2014
FIG 2. A, Retcam (Clarity Medical Systems, Pleasanton CA) image of left eye showing funnel retinal detachment and peripheral retinal telangiectasia. B, B-scan ultrasound of the left eye showing funnel retinal detachment.
degeneration, and gliosis (Figure 3A). Some proteinaceous exudate with foam cells was trapped between retinal folds; no subretinal cholesterol crystals were visible after standard fixation. There was no suggestion of retinoblastoma (Figure 3B). The combination of clinical and histopathological findings suggested a Coats disease process, and it is likely the subretinal cholesterol was lost during preparation for histology. At the last follow-up examination, 4 years after presentation, the right eye remained healthy.
Discussion Coats disease is an idiopathic retinal vasculopathy,1 usually sporadic and unilateral, with a strong male predominance and no established genetic basis. The mean age at diagnosis is 10 years.2 Common modes of presentation include reduced vision, strabismus, and leukocoria. Hallmark features of Coats disease are telangiectasia of peripheral retinal vessels with subretinal and intraretinal exudation in otherwise healthy individuals. Transpupillary laser photoablation of telangiectatic retinal vessels might preserve vision in milder cases by promoting resolution of exudates. In advanced cases treatment aims to reduce the risk of neovascular glaucoma and pre-
Journal of AAPOS
Lim Fat et al
87
FIG 3. A, Microscopic examination of the enucleated left eye shows (hematoxylin and eosin, original magnification 2) total retinal detachment, with marked disorganization, vacuolar degeneration and gliosis. B, Higher magnification histological section showing proteinaceous exudate trapped between retinal folds (original magnification 20).
serve the eye. Severe cases have been treated surgically,3,4 with varying degrees of success in reattaching the retina and stabilizing the exudative process. Visual outcome depends on the degree of involvement at the posterior pole. In a cohort of 117 patients (124 eyes), Shields and colleagues5 reported final visual acuities of $20/50 in 14% of eyes, 20/60 to 20/100 in 6%, 20/200 to counting fingers in 24%, and hand movements to no light perception in 40%; 18% of eyes were managed conservatively and 11% primarily enucleated. Coats disease is the most common diagnosis in eyes enucleated because of possible but unconfirmed retinoblastoma.6 In most cases the diagnosis can be established by meticulous fundus examination and ultrasound; however, some forms of retinoblastoma, particularly the diffuse infiltrative type, can be difficult to differentiate from advanced Coats disease in young children. Early treatment in Coats disease is essential for preventing progression, but enucleation may be the safest course of action when retinoblastoma is possible.
88
Yam, Deitz, and Wright
This case is unusual in both the age of onset and the rapidity of progression. To our knowledge, this is the youngest case of Coats disease to be reported in the literature, with documented signs at birth, total retinal detachment at presentation, and rapid progression to end-stage disease, with phthisis bulbi occurring in a matter of weeks. This case highlights the wide variation in the clinical presentation of Coats disease and the difficulty in differentiating it from diffuse infiltrative retinoblastoma. Early onset is associated with an aggressive disease course and rapid progression.
Literature Search PubMed and ScienceDirect were searched on May 25, 2013, without date or language restriction using the following terms: aneurysm, Coats disease, retinal disease, and telangiectasis in combination with complications, diagnosis,
Volume 18 Number 1 / February 2014 and surgery or pathology AND infant OR newborn; retinal vessels AND pathology OR surgery. References 1. Coats G. Forms of retinal diseases with massive exudation. R Lon Ophthalmol Hosp Rep 1908;17:440-525. 2. Shields JA. Shields CL Review: Coats disease; the 2001 LuEsther T. Mertz Lecture. Retina 2002;22:80-91. 3. Adam RS, Kertes PJ, Lam WC. Observations on the management of Coats’ disease: less is more. Br J Ophthalmol 2007;91:303-6. 4. Mrejen S, Metge F, Denion E, Dureau P, Edelson C, Caputo G. Management of retinal detachment in Coats disease—study of 15 cases. Retina 2008;28:S26-32. 5. Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and management of Coats disease: the 2000 Proctor Lecture. Am J Ophthalmol 2001;131:572-83. 6. Shields JA, Parsons HM, Shields CL, Shah P. Lesions simulating retinoblastoma. J Pediatr Ophthalmol Strabismus 1991;28:338-40.
Bilateral canalicular and nasolacrimal duct obstruction in congenital erosive and vesicular dermatosis: a case report and review of the literature Jason C. S. Yam, MPH, FRCS(Ed),a Luke W. Deitz, MD,b and Kenneth W. Wright, MDb
We report the ocular findings in a 2.5-year-old girl with a history of congenital erosive and vesicular dermatosis at birth. We highlight the complexity of the associated nasolacrimal duct obstruction with canalicular scarring and review the ocular manifestations of this rare disease.
C
ongenital erosive and vesicular dermatosis (CEVD) healing with reticulate scarring is a rare disease, with only 18 cases reported in the literature. It presents at birth, usually in premature infants, with crusted erosions and vesicles that heal relatively rapidly, forming unique reticulated scars over the trunk and limbs, tongue,1-3 and scalp,1,3-5 with relative sparing of the face and volar surfaces. Only 4 cases have been reported with ocular
Author affiliations: aDepartment of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong; bWright Foundation for Pediatric Ophthalmology and Strabismus, Los Angeles, California Submitted May 8, 2013. Revision accepted September 4, 2013. Correspondence: Luke W. Deitz, MD, Wright Foundation for Pediatric Ophthalmology and Strabismus, Los Angeles, California (email: [email protected]). J AAPOS 2014;18:88-90. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.09.009
involvement,2,4-6 including nasolacrimal duct obstruction, corneal scarring, cicatricial alopecia of the eyelashes, recurrent conjunctivitis, blepharitis, and macular scarring.
Case Report A 2.5-year-old white-Asian girl with a diagnosis of CEVD was referred for bilateral epiphora that began soon after birth. She was born at 27 weeks gestation, weighing 1,180 g. At birth, she was noted to have a red blistering eruption of her trunk, scalp, and extremities and was diagnosed with congenital erosive and vesicular dermatosis. Differential diagnosis included ectodermal dysplasia, such as Rapp-Hodgkin syndrome. Testing failed to identify any mutation in the TP63 gene. She remained hospitalized for the first 10 weeks of life. General examination showed reticulated scarring of her skin over the trunk, extremities, and scalp (Figure 1A); the palm, soles, and face were spared. Her teeth and hair were normal, and her tongue showed no scarring. Cognitive and motor development was appropriate. On ophthalmological examination, her visual acuity was 20/40 in both eyes. Bilateral upper and lower eyelid erythema was noted at the margins, along with partial absence of the eyelashes of the upper and lower lids. An increased tear lake was observed in both eyes (Figure 1B). Her corneas were clear centrally, with superficial inferior
Journal of AAPOS
Lim Fat et al
Volume 18 Number 1 / February 2014
between the strabismus surgeon and the physician prescribing anticoagulation is important. Patients must also be fully informed about the risks and benefits associated with surgery.
2.
3.
Literature Search PubMed was searched, without language or date restriction, using the following terms: strabismus, warfarin, and anticoagulants. References 1. Katz J, Feldman MA, Bass EB, et al. Study of Medical Testing for Cataract Surgery Team. Risks and benefits of anticoagulant and antiplatelet
4. 5. 6. 7.
medication use before cataract surgery. Ophthalmology 2003;110: 1784-8. Rotenstreich Y, Rubowitz A, Segev F, Jaeger-Roshu S, Assia EI. Effect of warfarin therapy on bleeding during cataract surgery. J Cataract Refract Surg 2001;27:1344-6. Ong-Tone L, Paluck EC, Hart-Mitchell RD. Perioperative use of warfarin and aspirin in cataract surgery by Canadian Society of Cataract and Refractive Surgery members: survey. J Cataract Refract Surg 2005;31:991-6. Custer PL, Trinkaus KM. Hemorrhagic complications of oculoplastic surgery. Ophthal Plast Reconstr Surg 2002;18:409-15. Oh J, Smiddy WE, Kim SS. Antiplatelet and anticoagulation therapy in vitreoretinal surgery. Am J Ophthalmol 2011;151:934-9. Ares C, Superstein R. Retrobulbar hemorrhage following strabismus surgery. J AAPOS 2006;10:594-5. Todd B, Sullivan TJ, Gole GA. Delayed orbital hemorrhage after routine strabismus surgery. Am J Ophthalmol 2001;131:818-19.
Coats disease in a 3-week-old boy Charles P. Lim Fat, MBBS, FRCOphth,a Sam Yuen Sum Lee, BSc, MbChB,b Marie-Anne Brundler, MD,c Christopher M. Scott, FRCOphth,a and Manoj V. Parulekar, MS, FRCSc
Coats disease is a rare, idiopathic retinal vasculopathy that predominantly affects males in the first decade of life. We report the case of a 3-week-old boy who presented with atypical rapidly progressing disease suggestive of Coats exudative vasculopathy. The eye developed retinal fibrosis and phthisis bulbi within 4 weeks. Retinoblastoma could not be ruled out, although histopathology after enucleation revealed no retinoblastoma. To our knowledge, this is the youngest case of Coats disease to be reported in the literature. This case highlights the wide variation in the clinical presentation of Coats disease and the difficulty in differentiating it from diffuse infiltrative retinoblastoma.
Case Report
A
3-week-old boy presented at the Birmingham Children’s Hospital with an abnormal red reflex in the left eye, noted on photographs at birth (Figure 1), and a gradual change in iris color since birth. He was born at term following an uneventful pregnancy and birth and was otherwise healthy. Family history was unremarkable. On examination, the left eye had extensive ec-
Author affiliations: aRoyal Aberdeen Children’s Hospital, Aberdeen, United Kingdom; b University Hospitals Birmingham, Edgbaston, Birmingham, United Kingdom; c Birmingham Children’s Hospital, Birmingham, United Kingdom Submitted July 16, 2013. Revision accepted August 31, 2013. Correspondence: Manoj V. Parulekar, MS, FRCS, Consultant Paediatric Ophthalmologist, Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, West Midlands B4 6NH, United Kingdom (email: [email protected]). J AAPOS 2014;18:86-88. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.08.013
FIG 1. External photograph of the left eye on day 3 after birth showing ectropion uveae and abnormal pupillary reflex.
tropion uveae, iris vessel engorgement, a fixed dilated pupil, and a total retinal detachment. The right eye was normal. Examination under anesthesia confirmed total retinal detachment, pale yellow subretinal exudates, and dilated vessels in the retinal periphery (Figure 2A). On B-scan ultrasonography, no intraocular mass or calcification was apparent (Figure 2B). The patient was provisionally diagnosed with Coats-like exudative vasculopathy; treatment was deferred in favor of close observation. Within 4 weeks the left eye developed retinal fibrosis and phthisis. Although the appearance was highly suggestive of Coats disease, the unusually early onset and rapid progression made it difficult to rule out diffuse infiltrative retinoblastoma. In view of the poor visual prognosis, pthisis, and slight uncertainty over diagnosis, the left eye was enucleated when the child was 10 weeks old. Histopathological examination confirmed total retinal detachment, with disorganized retina, focal vacuolar
Journal of AAPOS
Volume 18 Number 1 / February 2014
FIG 2. A, Retcam (Clarity Medical Systems, Pleasanton CA) image of left eye showing funnel retinal detachment and peripheral retinal telangiectasia. B, B-scan ultrasound of the left eye showing funnel retinal detachment.
degeneration, and gliosis (Figure 3A). Some proteinaceous exudate with foam cells was trapped between retinal folds; no subretinal cholesterol crystals were visible after standard fixation. There was no suggestion of retinoblastoma (Figure 3B). The combination of clinical and histopathological findings suggested a Coats disease process, and it is likely the subretinal cholesterol was lost during preparation for histology. At the last follow-up examination, 4 years after presentation, the right eye remained healthy.
Discussion Coats disease is an idiopathic retinal vasculopathy,1 usually sporadic and unilateral, with a strong male predominance and no established genetic basis. The mean age at diagnosis is 10 years.2 Common modes of presentation include reduced vision, strabismus, and leukocoria. Hallmark features of Coats disease are telangiectasia of peripheral retinal vessels with subretinal and intraretinal exudation in otherwise healthy individuals. Transpupillary laser photoablation of telangiectatic retinal vessels might preserve vision in milder cases by promoting resolution of exudates. In advanced cases treatment aims to reduce the risk of neovascular glaucoma and pre-
Journal of AAPOS
Lim Fat et al
87
FIG 3. A, Microscopic examination of the enucleated left eye shows (hematoxylin and eosin, original magnification 2) total retinal detachment, with marked disorganization, vacuolar degeneration and gliosis. B, Higher magnification histological section showing proteinaceous exudate trapped between retinal folds (original magnification 20).
serve the eye. Severe cases have been treated surgically,3,4 with varying degrees of success in reattaching the retina and stabilizing the exudative process. Visual outcome depends on the degree of involvement at the posterior pole. In a cohort of 117 patients (124 eyes), Shields and colleagues5 reported final visual acuities of $20/50 in 14% of eyes, 20/60 to 20/100 in 6%, 20/200 to counting fingers in 24%, and hand movements to no light perception in 40%; 18% of eyes were managed conservatively and 11% primarily enucleated. Coats disease is the most common diagnosis in eyes enucleated because of possible but unconfirmed retinoblastoma.6 In most cases the diagnosis can be established by meticulous fundus examination and ultrasound; however, some forms of retinoblastoma, particularly the diffuse infiltrative type, can be difficult to differentiate from advanced Coats disease in young children. Early treatment in Coats disease is essential for preventing progression, but enucleation may be the safest course of action when retinoblastoma is possible.
88
Yam, Deitz, and Wright
This case is unusual in both the age of onset and the rapidity of progression. To our knowledge, this is the youngest case of Coats disease to be reported in the literature, with documented signs at birth, total retinal detachment at presentation, and rapid progression to end-stage disease, with phthisis bulbi occurring in a matter of weeks. This case highlights the wide variation in the clinical presentation of Coats disease and the difficulty in differentiating it from diffuse infiltrative retinoblastoma. Early onset is associated with an aggressive disease course and rapid progression.
Literature Search PubMed and ScienceDirect were searched on May 25, 2013, without date or language restriction using the following terms: aneurysm, Coats disease, retinal disease, and telangiectasis in combination with complications, diagnosis,
Volume 18 Number 1 / February 2014 and surgery or pathology AND infant OR newborn; retinal vessels AND pathology OR surgery. References 1. Coats G. Forms of retinal diseases with massive exudation. R Lon Ophthalmol Hosp Rep 1908;17:440-525. 2. Shields JA. Shields CL Review: Coats disease; the 2001 LuEsther T. Mertz Lecture. Retina 2002;22:80-91. 3. Adam RS, Kertes PJ, Lam WC. Observations on the management of Coats’ disease: less is more. Br J Ophthalmol 2007;91:303-6. 4. Mrejen S, Metge F, Denion E, Dureau P, Edelson C, Caputo G. Management of retinal detachment in Coats disease—study of 15 cases. Retina 2008;28:S26-32. 5. Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and management of Coats disease: the 2000 Proctor Lecture. Am J Ophthalmol 2001;131:572-83. 6. Shields JA, Parsons HM, Shields CL, Shah P. Lesions simulating retinoblastoma. J Pediatr Ophthalmol Strabismus 1991;28:338-40.
Bilateral canalicular and nasolacrimal duct obstruction in congenital erosive and vesicular dermatosis: a case report and review of the literature Jason C. S. Yam, MPH, FRCS(Ed),a Luke W. Deitz, MD,b and Kenneth W. Wright, MDb
We report the ocular findings in a 2.5-year-old girl with a history of congenital erosive and vesicular dermatosis at birth. We highlight the complexity of the associated nasolacrimal duct obstruction with canalicular scarring and review the ocular manifestations of this rare disease.
C
ongenital erosive and vesicular dermatosis (CEVD) healing with reticulate scarring is a rare disease, with only 18 cases reported in the literature. It presents at birth, usually in premature infants, with crusted erosions and vesicles that heal relatively rapidly, forming unique reticulated scars over the trunk and limbs, tongue,1-3 and scalp,1,3-5 with relative sparing of the face and volar surfaces. Only 4 cases have been reported with ocular
Author affiliations: aDepartment of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong; bWright Foundation for Pediatric Ophthalmology and Strabismus, Los Angeles, California Submitted May 8, 2013. Revision accepted September 4, 2013. Correspondence: Luke W. Deitz, MD, Wright Foundation for Pediatric Ophthalmology and Strabismus, Los Angeles, California (email: [email protected]). J AAPOS 2014;18:88-90. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2013.09.009
involvement,2,4-6 including nasolacrimal duct obstruction, corneal scarring, cicatricial alopecia of the eyelashes, recurrent conjunctivitis, blepharitis, and macular scarring.
Case Report A 2.5-year-old white-Asian girl with a diagnosis of CEVD was referred for bilateral epiphora that began soon after birth. She was born at 27 weeks gestation, weighing 1,180 g. At birth, she was noted to have a red blistering eruption of her trunk, scalp, and extremities and was diagnosed with congenital erosive and vesicular dermatosis. Differential diagnosis included ectodermal dysplasia, such as Rapp-Hodgkin syndrome. Testing failed to identify any mutation in the TP63 gene. She remained hospitalized for the first 10 weeks of life. General examination showed reticulated scarring of her skin over the trunk, extremities, and scalp (Figure 1A); the palm, soles, and face were spared. Her teeth and hair were normal, and her tongue showed no scarring. Cognitive and motor development was appropriate. On ophthalmological examination, her visual acuity was 20/40 in both eyes. Bilateral upper and lower eyelid erythema was noted at the margins, along with partial absence of the eyelashes of the upper and lower lids. An increased tear lake was observed in both eyes (Figure 1B). Her corneas were clear centrally, with superficial inferior
Journal of AAPOS
