agent, stretching and bringing the rolled up Descemet’s membrane closer, and thus facilitates migration of endot-helial cells.11Although intracameral gas is preferred to air
for treating corneal hydrops,7there is a risk of endothelial
toxicity, Urrets-Zavalia syndrome and secondary glaucoma with the use of long-acting gases intracamerally.12A fixed
dilated pupil with iris atrophy (Urrets-Zavalia Syndrome) is an uncommon postoperative complication that was originally described after penetrating keratoplasty for keratoconus.13 Although the precise aetiology of the
syn-drome is unknown, it has been proposed that ischaemia of the iris may develop after raised intraocular pressure and leave a fixed dilated pupil.
To the best of our knowledge this is the first report on the use of intracameral C2F6for managing bilateral acute
hydrops secondary to keratoglobus. We chose to use C2F6
as this had a shorter duration of action when compared with C3F8. In spite of the formation of a paracentesis to
decompress the anterior segment and postoperative aceta-zolamide treatment our patient developed Urrets-Zavalia syndrome in the RE.
In conclusion, we believe that pneumodescemetopexy can be a safe and effective option for the treatment of acute hydrops secondary to keratoglobus. This case demon-strates how the procedure can lead to rapid resolution of corneal oedema and improvement of vision.
Christine KiireMRCOphthand Sathish SrinivasanFRCOphth Department of Ophthalmology, Ayr Hospital, Ayrshire and Arran NHS Trust, Ayr, Scotland, UK Received 13 May 2009; accepted 24 August 2009.
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EFERENCES1. Pouliquen Y. Keratoconus. Eye 1987; 1: 1–14.
2. Grewal S, Laibson PR, Cohen EJ, Rapuano CJ. Acute hydrops in the corneal ectasias: associated features and outcomes. Trans Am Ophthalmol Soc 1999; 97: 187–98. 3. Nelson ME, Talbot JF. Keratoglobus in the Rubinstein–
Taybi syndrome. Br J Ophthalmol 1989; 73: 385–7. 4. Kaushal S, Sharma N, Vajpayee RB. Treatment of acute
corneal hydrops with intracameral C3F8 in a patient of pellucid marginal degeneration with keratoglobus. Clin Experiment Ophthalmol 2007; 35: 697–9.
5. Zusman NB, Waring GO, Najarian LV et al. Sulfur hexafluoride (SF6) gas in the repair of intractable Descemet’s membrane detachment. Am J Ophthalmol 1987; 104: 660–2.
6. Miyata K, Tsuji H, Tanabe T et al. Intracameral air injec-tion for acute hydrops in keratoconus. Am J Ophthalmol 2002; 133: 750–2.
7. Shah SG, Sridhar MS, Sangwan VS. Acute corneal hydrops treated by intracameral injection of perfluo-ropropane (C3F8) gas. Am J Ophthalmol 2005; 139: 368–70.
8. Sii F, Lee GA, Gole GA. Perforated corneal hydrops treated with sulfur hexafluoride (SF6) gas and tissue adhesive. Cornea 2005; 24: 503–4.
9. Panda A, Aggarwal A, Madhavi P et al. Management of acute corneal hydrops secondary to keratoconus with intracameral injection of sulfur hexafluoride (SF6).
Cornea 2007; 26: 1067–9.
10. Feder RS. Intrastromal clefts in keratoconus patients with hydrops. Am J Ophthalmol 1998; 126: 9–16. 11. Wolter JR, Henderson JW, Clahassey EG. Ruptures of
Descemet’s membrane in keratoconus: causing acute hydrops and posterior keratoconus. Am J Ophthalmol 1967; 63: 1689–92.
12. Aralikatti A, Tomlins PJ, Shah S. Urrets-Zavalia syn-drome following intracameral C3F8injection for acute
corneal hydrops. Clin Exp Ophthalmol 2008; 36: 198–9. 13. Urrets-Zavalia A. A fixed, dilated pupil iris atrophy
and secondary glaucoma. A distinct clinical entity fol-lowing penetrating keratoplasty in keratoconus. Am J Ophthalmol 1963; 56: 257–65.
Bilateral punctum atresia and
lacrimal sac fistula in a child with
CHARGE syndrome
_894..905CHARGE syndrome is a genetic disorder most commonly caused by mutations of a single gene (CHD7) resulting in multiple anomalies. Coloboma, heart defect, atresia choanae, retarded growth and development, genital hypo-plasia, ear anomalies/deafness are the main features observed in this syndrome and generate the given name CHARGE.1Although coloboma is the major ocular feature
of CHARGE syndrome, a wide range of ocular disorders such as refractive errors, strabismus, microphthalmia, ocular movement disorders have been reported.2Lacrimal
drainage system anomalies such as punctum agenesis, canalicular atresia and nasolacrimal duct obstruction have been only described in four patients previously.2–4Here we
report a case of bilateral lacrimal punctum agenesis and accompanying lacrimal sac fistula in 3-year-old boy with CHARGE syndrome.
A 3-year-old boy was presented with tearing and dis-charge in both eyes since birth. The patient was brought to the hospital shortly after birth with dyspnoea and laryn-geal retraction. The patient was diagnosed as CHARGE syndrome with the clinical findings of unilateral choanal atresia, characteristic ear shapes, unilateral sensorineural hearing loss, chorioretinal coloboma in the left eye, facial nerve palsy in the left side, micropenis and cryptorchidism (Fig. 1). On ocular examination the eyes had sticky appear-ance, the entire four puncta were absent, and bilateral lacrimal sac fistula openings were observed inferonasal to the medial canthal angle (Fig. 2). Upon syringing of the fistula with fluorescein tinted balanced salt solution, fluid was observed to exude from the nose. There were also mild ptosis and chorioretinal coloboma in the left eye. We informed the family about the situation and agreed to post-pone the surgical management as it could necessitate
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© 2009 The Authors Journal compilation © 2009 Royal Australian and New Zealand College of Ophthalmologists
Lester-Jones tube insertion that would not be suitable for this age. The patient was prescribed topical netilmicin 0.3% eye drops (Netira Single Dose, SIFI SpA, Catania, Italy) once a daily for 2 weeks.
Developmental anomalies occurring in a critical period of embryogenesis probably during weeks 4–6 results in multiple malformations observed in CHARGE syndrome. Coloboma is one of these malformations that appear as a result of closure failure of the embryonic ocular fissure before sixth week ends. Morphogenesis of the lacrimal drainage system also belongs to this period since first appearance in embryos at their fifth week of development
until it attains morphological maturity at the 16th week of development. Invagination of surface ectoderm into the lacrimal groove forms the initial solid lacrimal cord and surrounded by mesoderm during canalization. The cepha-lic end of this cord buds to form the canacepha-liculi. The abnor-mal budding that reaches the skin instead of the lids could lead to absence of punctum with or without canalicular involvement and lacrimal sac fistula formation.
Bartik M et al. described the absence of three lacrimal canaliculi a 12-year-old girl with CHARGE syndrome.3
Another case regarding the lacrimal system anomalies reported in CHARGE syndrome is superior punctual and lacrimal canalicular atresia accompanying with nasolacri-mal duct obstruction in a 4-year-old boy.4 Nasolacrimal
duct obstruction was also found in two patients among a group of 50 individuals with CHARGE syndrome.2Our
case is unique as it is the first report of bilateral lacrimal sac fistula and accompanying punctum agenesis in CHARGE syndrome.
Punctum agenesis usually is associated with the absence of underlying canalicular tissue. If both puncta are missing the probability of canalicular agenesis was reported to be as high as 86%.5In case of both canalicular
agenesis dacryocystorhinostomy and Lester-Jones tube insertion is the only choice of surgery to relieve symptoms. The authors also point the difficulties in daily management of Lester-Jones tube in childhood and suggest planning the surgery for the teenage years.5 In the view of this
knowledge we decided to postpone definitive surgery later on life preferentially after the age of 15 years.
Punctum agenesis and lacrimal sac fistula are rare anomalies unlike nasolacrimal duct obstruction (which occurs in a large paediatric population.) Therefore coexist-ence of these two entities with CHARGE syndrome could hardly be a coincidence but further similar cases are nec-essary to support the casual relationship.
Zafer OnaranMD, Pelin Yimazbas¸MD
and Kemal ÖrnekMD Kirikkale University School of Medicine, Department of Ophthalmology, Kirikkale, Turkey Received 31 May 2009; accepted 21 September 2009.
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EFERENCES1. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006; 1: 34.
2. Russell-Eggitt IM, Blake KD, Taylor DS, Wyse RK. The eye in the CHARGE association. Br J Ophthalmol 1990; 74: 421–6.
3. Bartik M, Cordonnier M, Elmer C, Mansbach A. Asso-ciation of the CHARGE syndrome and imperforation of the lacrymal ducts. Bull Soc Belge Ophtalmol 1990; 239: 11–17.
4. Bowling BS, Chandna A. Superior lacrimal canalicular atresia and nasolacrimal duct obstruction in the CHARGE association. J Pediatr Ophthalmol Strabismus 1994; 31: 336–7.
5. Lyons CJ, Rosser PM, Welham RA. The management of punctal agenesis. Ophthalmology 1993; 100: 1851–5. Figure 1. Photo of the patient demonstrating left facial palsy,
ptosis in the left eye and abnormal shaped ear.
Figure 2. Sticky appearance of the right eye. External opening of lacrimal sac fistula can be seen inferonasal to the medial canthus.
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