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Stickler syndrome associated with congenital glaucoma
Case Report
Stickler syndrome associated with congenital glaucoma Bhamy Hariprasad Shenoy, Anil Kumar Mandal Lancet 2013; 381: 422 Department of Paediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, (B H Shenoy MD), and VST Glaucoma Services (A K Mandal MD), Jasti V Ramanamma Children’s Eye Care Centre, LV Prasad Eye Institute, KAR Campus, Hyderabad, India Correspondence to: Bhamy Hariprasad Shenoy, Department of Paediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, LV Prasad Eye Institute, LV Prasad Marg, Banjara Hills, Hyderabad-500034, Andhra Pradesh, India [email protected] See Online for appendix
A
In May, 2011, a 1-month-old baby girl was referred to our centre for management of congenital corneal opacity. She was born of a non-consanguineous marriage with no significant family history. She had a history of feeding difficulty and was diagnosed to have cleft palate at birth. She was examined under anaesthesia with a laryngeal mask airway and was found to have raised intraocular pressure (IOP). She was scheduled for glaucoma filtering surgery, which was deferred because of unsuccessful endotracheal intubation, and she was referred to our centre. Physical examination showed brachycephaly, pseudoproptosis, a flat nasal bridge, anteverted nostrils, micrognathia (figure), cleft palate, glossoptosis, and auditory impairment. Examination under anaesthesia showed diffuse corneal stromal oedema with central Haab’s striae, horizontal corneal diameter of 14 mm in both eyes (see appendix), and IOP of 30 and 28 mm Hg in the right and left eye, respectively. Gonioscopy showed anterior high insertion of the iris. Posterior segment examination was unremarkable. Refraction was –14 dioptre sphere with 27·5 mm axial length on ultrasound B-scan in both eyes (see appendix). Orthopaedic assessment showed mild spondyloepiphyseal dysplasia. Genetic assessment showed normal chromosomal pattern. A diagnosis of Stickler syndrome with Pierre Robin sequence and bilateral congenital glaucoma was made. She had simultaneous bilateral combined trabeculotomy with trabeculectomy under general anaesthesia with laryngeal mask airway as endotracheal intubation failed because of micrognathia and cleft palate. In February, 2012, at last follow-up, her visual acuity was 20/130 with Teller’s acuity cards. She requires long-term monitoring of her vision and 6 monthly checks for retinal detachment, raised IOP; and annual orthopaedic and otorhinological B
consultation. She will also require cleft-palate repair by 18–24 months of age. Stickler syndrome is a dominantly inherited type of progressive hereditary ophthalmoarthropathy due to mutations in the COL2A1, COL11A1, or COL11A2 gene. It is a disorder of collagen connective tissues with characteristic ocular signs (moderate to severe myopia, lenticular opacities, vitreoretinal degeneration, perivascular pigmentary retinopathy, and retinal detachment); skeletal signs (joint hyperextensibility and enlargement, arthritis, and mild spondyloepiphyseal dysplasia);1 and orofacial abnormalities (midfacial flattening, cleft palate, sensorineural hearing loss, and Pierre Robin sequence).2 Pierre Robin sequence is currently regarded as a nonspecific manifestation of different syndromes, with half such cases being associated with Stickler syndrome.2 Open angle glaucoma in adults with Stickler syndrome is well described, and the reported incidence of anterior chamber angle anomalies associated with the syndrome is 26%.3 Despite the high incidence of anterior chamber angle abnormalities, congenital glaucoma in association with Stickler syndrome is rarely reported. However, a high number of cases of Pierre Robin sequence associated with congenital glaucoma have been reported,4,5 and most of these reports were published before Stickler syndrome was well recognised. It is possible that few of these cases were in fact cases of Stickler syndrome associated with congenital glaucoma, which may also be a reason for the association not being well recognised. Congenital glaucoma can coexist with Stickler syndrome and poses a challenge in terms of management because of large eyeball and thin sclera with various associated comorbidities and difficult intubation. Early recognition of the syndrome is important, not only for genetic counselling but also to offer a more precise prognosis and improved treatment of serious disorders such as congenital glaucoma. A multidisciplinary approach is needed for successful management of these children. Contributors AKM, BHS looked after the patient and wrote the report. Written consent to publication was obtained.
Figure 1: CT scan (head) with 3D reconstruction Showing (A) brachycephaly and pseudoproptosis; (B) a flat nasal bridge, anteverted nostrils, and micrognathia.
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References 1 Ziakas NG, Ramsay AS, Lynch SA, Clarke MP. Stickler’s syndrome associated with congenital glaucoma. Ophthalmic Genet 1998; 19: 55–58. 2 Optiz JM, France T, Herrmann J, Spranger JW. The Stickler syndrome. N Engl J Med 1972; 286: 546–47. 3 Spallone A. Stickler’s syndrome: a study of 12 families. Br J Ophthalmol 1987; 71: 504–09. 4 Saraux H, Dhermy P. Le glaucome du syndrome de P. Robin. Arch Ophthalmol 1968; 28: 793–800. 5 Ortlepp J, Brandt HP. Hydrophthalmos with Pierre-Robin syndrome. Klin Monbl Augenheilkd 1966; 148: 469.
www.thelancet.com Vol 381 February 2, 2013
Stickler syndrome associated with congenital glaucoma Bhamy Hariprasad Shenoy, Anil Kumar Mandal Lancet 2013; 381: 422 Department of Paediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, (B H Shenoy MD), and VST Glaucoma Services (A K Mandal MD), Jasti V Ramanamma Children’s Eye Care Centre, LV Prasad Eye Institute, KAR Campus, Hyderabad, India Correspondence to: Bhamy Hariprasad Shenoy, Department of Paediatric Ophthalmology, Strabismus, and Neuro-ophthalmology, LV Prasad Eye Institute, LV Prasad Marg, Banjara Hills, Hyderabad-500034, Andhra Pradesh, India [email protected] See Online for appendix
A
In May, 2011, a 1-month-old baby girl was referred to our centre for management of congenital corneal opacity. She was born of a non-consanguineous marriage with no significant family history. She had a history of feeding difficulty and was diagnosed to have cleft palate at birth. She was examined under anaesthesia with a laryngeal mask airway and was found to have raised intraocular pressure (IOP). She was scheduled for glaucoma filtering surgery, which was deferred because of unsuccessful endotracheal intubation, and she was referred to our centre. Physical examination showed brachycephaly, pseudoproptosis, a flat nasal bridge, anteverted nostrils, micrognathia (figure), cleft palate, glossoptosis, and auditory impairment. Examination under anaesthesia showed diffuse corneal stromal oedema with central Haab’s striae, horizontal corneal diameter of 14 mm in both eyes (see appendix), and IOP of 30 and 28 mm Hg in the right and left eye, respectively. Gonioscopy showed anterior high insertion of the iris. Posterior segment examination was unremarkable. Refraction was –14 dioptre sphere with 27·5 mm axial length on ultrasound B-scan in both eyes (see appendix). Orthopaedic assessment showed mild spondyloepiphyseal dysplasia. Genetic assessment showed normal chromosomal pattern. A diagnosis of Stickler syndrome with Pierre Robin sequence and bilateral congenital glaucoma was made. She had simultaneous bilateral combined trabeculotomy with trabeculectomy under general anaesthesia with laryngeal mask airway as endotracheal intubation failed because of micrognathia and cleft palate. In February, 2012, at last follow-up, her visual acuity was 20/130 with Teller’s acuity cards. She requires long-term monitoring of her vision and 6 monthly checks for retinal detachment, raised IOP; and annual orthopaedic and otorhinological B
consultation. She will also require cleft-palate repair by 18–24 months of age. Stickler syndrome is a dominantly inherited type of progressive hereditary ophthalmoarthropathy due to mutations in the COL2A1, COL11A1, or COL11A2 gene. It is a disorder of collagen connective tissues with characteristic ocular signs (moderate to severe myopia, lenticular opacities, vitreoretinal degeneration, perivascular pigmentary retinopathy, and retinal detachment); skeletal signs (joint hyperextensibility and enlargement, arthritis, and mild spondyloepiphyseal dysplasia);1 and orofacial abnormalities (midfacial flattening, cleft palate, sensorineural hearing loss, and Pierre Robin sequence).2 Pierre Robin sequence is currently regarded as a nonspecific manifestation of different syndromes, with half such cases being associated with Stickler syndrome.2 Open angle glaucoma in adults with Stickler syndrome is well described, and the reported incidence of anterior chamber angle anomalies associated with the syndrome is 26%.3 Despite the high incidence of anterior chamber angle abnormalities, congenital glaucoma in association with Stickler syndrome is rarely reported. However, a high number of cases of Pierre Robin sequence associated with congenital glaucoma have been reported,4,5 and most of these reports were published before Stickler syndrome was well recognised. It is possible that few of these cases were in fact cases of Stickler syndrome associated with congenital glaucoma, which may also be a reason for the association not being well recognised. Congenital glaucoma can coexist with Stickler syndrome and poses a challenge in terms of management because of large eyeball and thin sclera with various associated comorbidities and difficult intubation. Early recognition of the syndrome is important, not only for genetic counselling but also to offer a more precise prognosis and improved treatment of serious disorders such as congenital glaucoma. A multidisciplinary approach is needed for successful management of these children. Contributors AKM, BHS looked after the patient and wrote the report. Written consent to publication was obtained.
Figure 1: CT scan (head) with 3D reconstruction Showing (A) brachycephaly and pseudoproptosis; (B) a flat nasal bridge, anteverted nostrils, and micrognathia.
422
References 1 Ziakas NG, Ramsay AS, Lynch SA, Clarke MP. Stickler’s syndrome associated with congenital glaucoma. Ophthalmic Genet 1998; 19: 55–58. 2 Optiz JM, France T, Herrmann J, Spranger JW. The Stickler syndrome. N Engl J Med 1972; 286: 546–47. 3 Spallone A. Stickler’s syndrome: a study of 12 families. Br J Ophthalmol 1987; 71: 504–09. 4 Saraux H, Dhermy P. Le glaucome du syndrome de P. Robin. Arch Ophthalmol 1968; 28: 793–800. 5 Ortlepp J, Brandt HP. Hydrophthalmos with Pierre-Robin syndrome. Klin Monbl Augenheilkd 1966; 148: 469.
www.thelancet.com Vol 381 February 2, 2013