|Year : 2022 | Volume
| Issue : 1 | Page : 98-100
Management of microspherophakia and angle-closure glaucoma in Goldenhar syndrome
Vijayalakshmi A Senthilkumar1, Chinmayee Pradhan1, Sharmila Rajendrababu1, Chitaranjan Mishra2, Naresh B Kannan2
1 Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
2 Department of Retina and Vitreoretinal Surgery, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai, Tamil Nadu, India
|Date of Submission||22-Apr-2021|
|Date of Acceptance||06-Sep-2021|
|Date of Web Publication||07-Jan-2022|
Dr. Sharmila Rajendrababu
Glaucoma Consultant, Department of Glaucoma, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Madurai - 625 001, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Goldenhar syndrome is a congenital craniofacial syndrome, and the classical triad includes epibulbar dermoid, preauricular skin tags, and vertebral anomalies. The association between glaucoma and Goldenhar syndrome has been sparsely reported in literature as case reports. We describe a rare presentation of bilateral microspherophakia and secondary angle-closure glaucoma in a 29-year-young male with Goldenhar syndrome. To the best of our knowledge, this is the first case report describing the association between microspherophakia and Goldenhar syndrome.
Keywords: Angle-closure glaucoma, aurolab aqueous drainage implant, glaucoma drainage device, Goldenhar syndrome, microspherophakia
|How to cite this article:|
Senthilkumar VA, Pradhan C, Rajendrababu S, Mishra C, Kannan NB. Management of microspherophakia and angle-closure glaucoma in Goldenhar syndrome. Indian J Ophthalmol Case Rep 2022;2:98-100
|How to cite this URL:|
Senthilkumar VA, Pradhan C, Rajendrababu S, Mishra C, Kannan NB. Management of microspherophakia and angle-closure glaucoma in Goldenhar syndrome. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Jan 28];2:98-100. Available from: https://www.ijoreports.in/text.asp?2022/2/1/98/334996
Microspherophakia is a rare abnormality of the crystalline lens, marked by reduced equatorial diameter and increased lens thickness. It occurs either as an isolated entity or associated with syndromes like Alport syndrome, Weil marchesani syndrome, homocystinuria, and Marfans syndrome. Goldenhar syndrome develops due to defective development of the first and second branchial arch and is characterized by the classical triad of epibulbar or limbal dermoid, preauricular skin tag, and vertebral anomalies. The rarer ocular associations include upper lid coloboma, microphthalmos, cataract, iris and choroidal coloboma, tilted disc, optic nerve hypoplasia, squint, ocular motility problems, and anophthalmos. There has been no previous report of microspherophakia and angle-closure glaucoma in Goldenhar syndrome.
| Case Report|| |
A 29-year-old young male with a history of defective vision in both eyes (OU) since childhood, referred for glaucoma evaluation. At presentation, his best-corrected visual acuity (BCVA) was 20/40 (with -7 Diopter spherical) and 20/50 (with -8 Dioptre spherical) in the right eye (OD) and the left eye (OS), respectively. Intraocular pressure (IOP) was 35 and 48 mmHg in OD and OS, respectively. Slit-lamp evaluation revealed two limbal dermoids with hairfollicles in OD and shallow anterior chamber depth of Van Herricks grade 2 OU [Figure 1]a, [Figure 1]b, [Figure 1]c, [Figure 1]d. Gonioscopy OU revealed 360° of angle closure. Anterior segment OCT imaging showed decreased anterior chamber depth OU with anterior chamber angle (ACA) of 10° in OD and 18° in OS [Figure 2]a and [Figure 2]b. Ultrasound biomicroscopy revealed a decreased anterior chamber depth (1.6 mm OD and 1.5 mm OS), an increased lens thickness (4.14 mm OD and 4.32 mm OS), and a reduced equatorial lens diameter (6.5 mm OD and 6.4 mm OS) suggestive of microspherophakia [Figure 2]c and [Figure 2]d. Fundus evaluation showed 0.75 cup disc ratio (CDR) OD and 0.9 CDR OS [Figure 2]e and [Figure 2]f. Humphreys visual field analysis by 24-2 strategy revealed superior arcuate scotoma in OD and biarcuate scotoma with spared fixation in OS. General examination showed bilateral preauricular tags [Figure 1]a. Other than preauricular skin tags, there was no sign suggestive of external, middle, or internal ear anomalies. No abnormality was found on the cardiovascular and central nervous system examination. There was no similar illness in his family members. He underwent Nd: YAG laser iridotomy OU and started on maximum glaucoma eyedrops. Owing to advanced optic nerve damage in OS, he underwent pars plana vitrectomy (PPV) + pars plana lensectomy (PPL)+ scleral fixated intraocular lens (SFIOL) with aurolab aqueous drainage implant (AADI) in vitreous cavity in OS first [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d and then in OD with an interval of 2 months [Figure 3]. Surgical intervention in OD was difficult due to the presence of two limbal dermoids. Hence, we limited the extent of conjunctival peritomy from 10 to 12'0 clock h and relaxing posterior cuts were made avoiding the limbal dermoid. Placing the lateral wings of AADI plate beneath the lateral rectus muscle and plate fixing suture with 9-0 nylon was the challenging one due to limited visibility. The rest of the surgical steps were carried out as per the routine technique. Postoperatively, our patient had a hypertensive phase following 2 weeks after AADI implantation in OD which was managed with topical ocular hypotensive medications, which persisted till the release of tube occlusion sutures. At 6 month follow-up visit, his BCVA was 20/30 OD, 20/40 OS, and IOP remained stable at 14–16 mm Hg OU with a single-topical aqueous suppressant. He was advised for limbal dermoid excision OD and periodically review with us every 3 months.
|Figure 1: (a–d): (a) Clinical photograph showing bilateral preauricular tags (white arrows), (b) anterior segment photograph showing two limbal dermoids with hair follicles in the right eye, and (c and d) lateral photograph showing uniformly shallow anterior chamber depth in both eyes|
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|Figure 2: (a–f): (a and b) ASOCT imaging (Hiedelberg spectralis) showed decreased anterior chamber depth OU with anterior chamber angle (ACA) of 10° in OD and 18° in OS, (c and d) UBM (accutome by Keeler plus) showing a decreased anterior chamber depth (Line 1: 1.6 mm OD and 1.5 mm OS), an increased lens thickness (Line 2: 4.14 mm OD and 4.32 mm OS) and a reduced equatorial lens diameter (Line 3: 6.5 mm OD and 6.4 mm OS) suggestive of microspherophakia. (e and f)- Fundus photograph showing 0.75 CDR with inferior rim thinning OD and 0.9 CDR with bipolar thinning OS|
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|Figure 3: (a–d): Intraperative images of OS showing surgical steps: (a) Implantation of AADI plate beneath the superior and lateral rectus muscles after conjunctival peritomy (white arrow), (b) pars plana vitrectomy (white arrow), (c) implantation of SFIOL (white arrowheads), and (d) inserting AADI tube in the vitreous cavity (white circle)|
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| Discussion|| |
The association between microspherophakia and Goldenhar syndrome has not been reported so far. Presented here is a patient with classical features of Goldenhar syndrome (bilateral preauricular tags, unilateral limbal dermoids) along with bilateral microspherophakia and angle closure glaucoma. Microspherophakia is clinically characterized by a triad of angle-closure glaucoma, small spherical crystalline lens, and lenticular myopia. It has been postulated that weakness of the zonular fibers leads to lack of tension in the equatorial plane.
The incidence of Goldenhar syndrome has been reported to be between 1:3500 and 1:5600, with a male: female ratio of 3:27. The dysplasia is believed to occur either due to the teratogen exposure or a vascular disruption in intrauterine life or maternal diabetes. Genetic inheritance has been described in 1–2% cases with autosomal dominant or recessive pattern. The abnormalities are found to be unilateral in 85% and bilateral in 10–33% cases as seen in our patient. Different chromosomal anomalies have been reported including trisomy 7, trisomy 22, and Turners syndrome. There is one report that describes the association of Goldenhar syndrome with juvenile open-angle glaucoma in a patient with Turners syndrome and another case report describing the association of anterior segment dysgenesis with secondary glaucoma in Goldenhar syndrome.,
Epibulbar dermoids are the most common abnormality observed in 75% patients. Preauricular skin tags, pits/sinuses, and accessory auricles are second most common abnormality, usually unilateral, but can be bilateral in 33% cases as seen in our patient. Associated systemic features includes mandibular hypoplasia, cleft lip, cleft palate, macrostomia, micrognathia, short neck, neck webbing, undescended testis, cardiovascular abnormalities (50% patients), urogenital anomalies (70% patients), and vertebral anomalies (24% patients)., Our patient had no such systemic abnormalities.
Glaucoma associated with microspherophakia (51% patients) can result from various mechanisms, which is difficult to manage with close to 60% of the eyes failing medical and laser treatment. Pupillary block is a common mechanism leading to angle-closure glaucoma in patients with microspherophakia. Other reported mechanisms include crowding of the angle by the spherophakic lens, chronic pupillary block without complete angle closure, and angle abnormalities with agenesis of angle structures. Surgical management includes lensectomy, trabeculectomy, and glaucoma drainage tubes.,,,
Previous studies with longer follow-up have reported that lensectomy alone was not sufficient in controlling IOP in patients with microspherophakia. The patient described here had developed glaucoma as a result of chronic angle closure mechanism where glaucoma filteration surgery or drainage device is the treatment of choice. Senthil et al. reported a better surgical outcomes following trabeculectomy, which ranged from 79 to 90% in patients with microspherophakia. However, the postoperative shallow anterior chamber was a frequent complication following trabeculectomy alone. Due to the relative rarity of the condition, management of this condition has been largely institution based and lacking unanimously accepted guidelines.
| Conclusion|| |
Considering the risks involved with trabeculectomy and owing to severity of glaucoma OU in a young patient from a poor socioeconomic status, we proceeded with PPV + PPL + SFIOL and AADI in vitreous cavity in OS first and then in OD. The main reason for preferring AADI over AGV is the cost of the implant. Even though, the complications of hypotony following nonvalved AADI implant is an expected complication, we follow a safe technique of double occlusion suture of the tube using 6-0 vicryl. If staged procedure was planned for a similar patient, then PPV + PPL + AADI/AGV in vitreous cavity would be the preferred surgical option followed by SFIOL at a later date.
Mr. Rajkumar, photographer, Aravind Eye Hospital, Madurai, India
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Johnson GJ, Bosanquet RC. Spherophakia in a new-foundland family: 8 years experience. Can J Ophthalmol 1983;18:159-64.
Asaoka R, Kato M, Suami M, Usami Y, Hotta Y, Sato M. Chronic angle closure glaucoma secondary to frail zonular fibres and spherophakia. Acta Ophthalmol Scand 2003;81:533-5.
Senthil S, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, et al
. Glaucoma in microspherophakia: Presenting features and treatment outcomes. J Glaucoma 2014;23:262-7.
Araneta MR, Moore CA, Olney RS, Edmonds LD, Karcher JA, McDonough C, et al
. Goldenhar syndrome among infants born in military hospitals to Gulf War veterans. Teratology 1997;56:244-51.
Pridjian G, Gill WL, Shapira E. Goldenhar sequence and mosaic trisomy 22. Am J Med Genet 1995;59:411-3.
Rao VA, Kaliaperumal S, Subramanyan T, Rao KR, Bhargavan R. Goldenhar's sequence with associated juvenile glaucoma in Turner's syndrome. Indian J Ophthalmol 2005;53:267-8.
] [Full text]
Dhingra D, Joshi G, Kaushik S, Pandav SS. Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome. Indian J Ophthalmol 2019;67:1751-3.
] [Full text]
Nakajima H, Goto G, Tanaka N, Ashiya H, Ibukiyama C. Goldenhar syndrome associated with various cardiovascular malformations. Jpn Circ J 1998;62:617-20.
Gibson JN, Sillence DO, Taylor TK. Abnormalities of spine in Goldenhar's syndrome. J Pediatr Orthop 1996;16:344-9.
Senthil S, Rao HL, Babu JG, Mandal AK, Addepalli UK, Garudadri CS. Outcomes of trabeculectomy in microspherophakia. Indian J Ophthalmol 2014;62:601-5.
] [Full text]
Kaushik S, Sachdev N, Pandav SS, Gupta A, Ram J. Bilateral acute angle closure glaucoma as a presentation of isolated microspherophakia in an adult: Case report. BMC Ophthalmol 2006;6:29.
Chandler PA. Choice of treatment in dislocation of the lens. Arch Ophthalmol 1964;71:765-86.
Willoughby CE, Wishart PK. Lensectomy in the management of glaucoma in spherophakia. J Cataract Refract Surg 2002;28:1061-4.
Harasymowycz P, Wilson R.Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. J Pediatr Ophthalmol Strabismus 2004;41:295-9.
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