SPONTANEOUS SCLERAL RUPTURE ADJACENT TO RETINOCHOROIDAL COLOBOMA Howard F. Fine, MD, MHSC, John J. Sorenson, MD, Richard F. Spaide, MD, Michael J. Cooney, MD, MBA, Yale L. Fisher, MD, Lucian V. Del Priore, MD, PHD
Background: Spontaneous scleral rupture in association with retinochoroidal coloboma is a rare and poorly understood event, with few reports in the literature. Methods: Interventional case report. Results: A 40-year-old man had a spontaneous decline in visual acuity with hypotony in the right eye. Photographic, fluorescein angiographic, optical coherence tomographic, ultrasonographic, and computed tomographic findings demonstrated that the cause was spontaneous rupture of ectatic sclera adjacent to a retinochoroidal coloboma. Surgical repair with primary suture imbrication and support with a segmental scleral buckle restored the intraocular pressure and baseline visual acuity. Conclusions: The adjacent but distinct locations of the retinochoroidal coloboma and ectatic sclera in this case suggest that during embryogenesis a full thickness defect was present in the eye wall, but due to differential growth rates, the scleral and retinochoroidal defects ceased to be superimposed. Persistent hypotony implies continued flow of liquefied vitreous or aqueous through the defect. Suture imbrication and scleral buckling can be a successful treatment option. RETINAL CASES & BRIEF REPORTS 2:296 –298, 2008
From the Vitreous, Retina, Macula Consultants of New York, the LuEsther T. Mertz Retina Research Laboratory, Manhattan Eye Ear and Throat Hospital, New York, New York.
graphic, ultrasonographic, and computed tomographic findings are described. A possible pathogenic mechanism for this condition is presented. Case Report
S
pontaneous scleral rupture in association with retinochoroidal coloboma is a rare event, with only three reported cases in the literature to our knowledge.1–3 We describe a patient with a retinochoroidal coloboma who developed ocular hypotony after presumed spontaneous rupture of an adjacent area of ectatic sclera. The defect was repaired with primary suture imbrication and scleral buckling. Clinical, optical coherence tomographic, fluorescein angio-
A 40-year-old man was referred to our office with a 3-week history of “sudden onset blurred vision” in the right eye. The patient denied any significant medical history, ocular history, or recent eye trauma. Visual acuity was 20/40 in the right eye and 20/20 in the left eye. Intraocular pressure was 2 mmHg in the right eye and 16 mmHg in the left eye. Slit-lamp examination disclosed a mildly elevated diffuse conjunctival bleb over the superotemporal globe (Fig. 1A). The underlying sclera had a purplish hue and was transilluminated (Fig. 1B). Anterior segment examination revealed 1⫹ cell and flare. Fundus examination demonstrated right-sided optic disk edema, choroidal folds, and retinal vascular tortuosity consistent with hypotony maculopathy. An area of myelinated nerve fibers was present along the superotemporal arcade (Fig. 1C). A retinochoroidal coloboma with visible underlying sclera and apparent incarcerated vitreous strands was observed in the superotemporal periphery (Fig. 1D). Fluorescein angiography demonstrated dye leakage of the optic disk and absence of fluorescence of the coloboma with staining at
Supported in part by a Heed Foundation Fellowship (to H.F.F.) and a grant from the Macula Foundation, Inc. No author has any financial interest in the subject matter presented. Reprint requests: Howard F. Fine, MD, MHSc, LuEsther T. Mertz Retina Research Laboratory, Manhattan Eye Ear and Throat Hospital, 210 East 64th Street New York, NY 10021; e-mail: [email protected]
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Fig. 1. A, Slit-lamp photograph showing a conjunctival bleb (arrow). B, Slit-lamp photograph revealing a transillumination defect of the sclera (arrow). C, Retinal photograph showing diffuse choroidal folds and myelinated nerve fibers along the superotemporal arcade. D, Retinal photograph showing a superotemporal coloboma (horizontal line indicates location of the optical coherence tomogram in H). E, Recirculation phase of a fluorescein angiogram demonstrating staining of the margin of the coloboma. F, Optical coherence tomogram of the defect reveals an abrupt thinning of retinal tissue in the area of the coloboma. G, B-scan ultrasonogram shows choroidal thickening with focal ectasia and outpouching of the sclera in the area of the coloboma (arrow). No orbital cyst is visualized. H, Computed tomogram demonstrates a smaller right globe than left globe. Area of the coloboma (circle [placed by the radiologist]) shows no adjacent cyst or foreign body.
its margin (Fig. 1E). Optical coherence tomography demonstrated an abrupt thinning of retinal tissue at the margin of the coloboma, as recently described4 (Fig. 1F). B-scan ultrasonography demonstrated posterior scleral thinning with a defect in the area of the coloboma (Fig. 1G). Orbital computed tomography showed that the right globe appeared smaller than the left globe, without evidence of an associated cyst or foreign body (Fig. 1H). Observation was recommended initially. One week after presentation, the patient returned noting a further decline in vision, which was attributed to progression of hypotony maculopathy. Visual acuity was 3/400 in the right eye, and the intraocular pressure was 1 mmHg. Treatment options were discussed, and the patient consented to undergo surgical repair of the defect. Intraoperatively, a 3.0-mm round area of thinned sclera was present through which uveal tissue was observed. This thinned area was imbricated with three horizontal mattress sutures (Fig. 2A) and supported with a segmental scleral buckle (Fig. 2B).
Fig. 2. A, Intraoperative photograph of primary suture imbrication of a scleral defect. B, Intraoperative photograph of a scleral buckle supporting a scleral defect. C, Postoperative photograph of a retina and coloboma supported by a scleral buckle.
One week after surgery, vision in the right eye improved to 20/80, and the intraocular pressure was 18 mmHg. Fundus examination revealed improvement of the choroidal folds, and the coloboma appeared well supported by the scleral buckle (Fig. 2C). Three weeks after surgery, vision was 20/30.
Discussion We suspect that during embryologic development there was a defect in the patient’s eye wall. With sliding of the sclera and uvea due to differential growth rates, the scleral and retinochoroidal defects ceased to be superimposed. This allowed a clinical view of intact sclera underlying the retinochoroidal coloboma and a surgical view of uvea through the
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externally ectatic sclera. A defect in the intercalary membrane may have arisen from an outer layer break at the coloboma margin combined with a central inner layer break, as described previously in pathologic specimens.4,5 Rupture of thinned sclera likely occurred spontaneously from minor trauma of which the patient was not aware, such as eye rubbing. Hypotony occurred secondarily as liquefied vitreous filtered through the retinal and scleral defects, elevating a conjunctival bleb. Vitreous strands were noted emanating from the coloboma edge by funduscopic examination, demonstrating vitreous incarceration. However, vitreous gel did not completely plug the wound or the eye would have repressurized. Therefore, sustained hypotony resulted from persistent percolation of liquefied vitreous or aqueous humor through the defect. Surgical approaches described for closure of spontaneous scleral rupture in retinochoroidal coloboma include autologous blood patch,6 tissue adhesive (cyanoacrylate glue) with scleral patch grafting,2 and primary sutured closure with scleral buckling.7 The latter method, used for our patient, provided adequate closure of the defect. This case of spontaneous scleral rupture in association with retinochoroidal coloboma highlights several important points. First, myelinated nerve fibers, retinochoroidal coloboma, and scleral coloboma in the same quadrant of an affected eye do not imply coin-
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cidence: they represent an ocular developmental abnormality. Second, persistent hypotony suggests continued flow of liquefied vitreous or aqueous through the defect. Last, the adjacent but distinct locations of the retinochoroidal coloboma and ectatic sclera provide convincing evidence for our proposed ontogenic mechanism. Key words: coloboma, hypotony, scleral fistula, scleral ectasia, scleral buckle. References 1.
2.
3.
4.
5.
6.
7.
Mori S, Komatsu H, Watari H. Spontaneous posterior bulbar perforation of congenital scleral coloboma and its surgical treatment: a case report. Ophthalmic Surg 1985;16:433–436. Gupta A, Narang S, Gupta V, et al. Successful closure of spontaneous scleral fistula in retinochoroidal coloboma. Arch Ophthalmol 2001;119:1220–1221. Viola F, Morescalchi F, Gandolfo E, Staurenghi G. Ocular hypotony secondary to spontaneously ruptured sclera in choroidal coloboma. Arch Ophthalmol 2004;122:1549–1551. Gopal L, Khan B, Jain S, Prakash VS. A clinical and optical coherence tomography study of the margins of choroidal colobomas. Ophthalmology 2007;114:571–580. Schubert HD. Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment. Trans Am Ophthalmol Soc 2005;103:457–472. Mahr MA, Garrity JA, Robertson DM, Herman DC. Ocular hypotony secondary to spontaneously ruptured posterior staphyloma. Arch Ophthalmol 2003;121:122–124. Schubert HD. Schisis-like rhegmatogenous retinal detachment associated with choroidal colobomas. Graefes Arch Clin Exp Ophthalmol 1995;233:74–79.
Background: Spontaneous scleral rupture in association with retinochoroidal coloboma is a rare and poorly understood event, with few reports in the literature. Methods: Interventional case report. Results: A 40-year-old man had a spontaneous decline in visual acuity with hypotony in the right eye. Photographic, fluorescein angiographic, optical coherence tomographic, ultrasonographic, and computed tomographic findings demonstrated that the cause was spontaneous rupture of ectatic sclera adjacent to a retinochoroidal coloboma. Surgical repair with primary suture imbrication and support with a segmental scleral buckle restored the intraocular pressure and baseline visual acuity. Conclusions: The adjacent but distinct locations of the retinochoroidal coloboma and ectatic sclera in this case suggest that during embryogenesis a full thickness defect was present in the eye wall, but due to differential growth rates, the scleral and retinochoroidal defects ceased to be superimposed. Persistent hypotony implies continued flow of liquefied vitreous or aqueous through the defect. Suture imbrication and scleral buckling can be a successful treatment option. RETINAL CASES & BRIEF REPORTS 2:296 –298, 2008
From the Vitreous, Retina, Macula Consultants of New York, the LuEsther T. Mertz Retina Research Laboratory, Manhattan Eye Ear and Throat Hospital, New York, New York.
graphic, ultrasonographic, and computed tomographic findings are described. A possible pathogenic mechanism for this condition is presented. Case Report
S
pontaneous scleral rupture in association with retinochoroidal coloboma is a rare event, with only three reported cases in the literature to our knowledge.1–3 We describe a patient with a retinochoroidal coloboma who developed ocular hypotony after presumed spontaneous rupture of an adjacent area of ectatic sclera. The defect was repaired with primary suture imbrication and scleral buckling. Clinical, optical coherence tomographic, fluorescein angio-
A 40-year-old man was referred to our office with a 3-week history of “sudden onset blurred vision” in the right eye. The patient denied any significant medical history, ocular history, or recent eye trauma. Visual acuity was 20/40 in the right eye and 20/20 in the left eye. Intraocular pressure was 2 mmHg in the right eye and 16 mmHg in the left eye. Slit-lamp examination disclosed a mildly elevated diffuse conjunctival bleb over the superotemporal globe (Fig. 1A). The underlying sclera had a purplish hue and was transilluminated (Fig. 1B). Anterior segment examination revealed 1⫹ cell and flare. Fundus examination demonstrated right-sided optic disk edema, choroidal folds, and retinal vascular tortuosity consistent with hypotony maculopathy. An area of myelinated nerve fibers was present along the superotemporal arcade (Fig. 1C). A retinochoroidal coloboma with visible underlying sclera and apparent incarcerated vitreous strands was observed in the superotemporal periphery (Fig. 1D). Fluorescein angiography demonstrated dye leakage of the optic disk and absence of fluorescence of the coloboma with staining at
Supported in part by a Heed Foundation Fellowship (to H.F.F.) and a grant from the Macula Foundation, Inc. No author has any financial interest in the subject matter presented. Reprint requests: Howard F. Fine, MD, MHSc, LuEsther T. Mertz Retina Research Laboratory, Manhattan Eye Ear and Throat Hospital, 210 East 64th Street New York, NY 10021; e-mail: [email protected]
296
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Fig. 1. A, Slit-lamp photograph showing a conjunctival bleb (arrow). B, Slit-lamp photograph revealing a transillumination defect of the sclera (arrow). C, Retinal photograph showing diffuse choroidal folds and myelinated nerve fibers along the superotemporal arcade. D, Retinal photograph showing a superotemporal coloboma (horizontal line indicates location of the optical coherence tomogram in H). E, Recirculation phase of a fluorescein angiogram demonstrating staining of the margin of the coloboma. F, Optical coherence tomogram of the defect reveals an abrupt thinning of retinal tissue in the area of the coloboma. G, B-scan ultrasonogram shows choroidal thickening with focal ectasia and outpouching of the sclera in the area of the coloboma (arrow). No orbital cyst is visualized. H, Computed tomogram demonstrates a smaller right globe than left globe. Area of the coloboma (circle [placed by the radiologist]) shows no adjacent cyst or foreign body.
its margin (Fig. 1E). Optical coherence tomography demonstrated an abrupt thinning of retinal tissue at the margin of the coloboma, as recently described4 (Fig. 1F). B-scan ultrasonography demonstrated posterior scleral thinning with a defect in the area of the coloboma (Fig. 1G). Orbital computed tomography showed that the right globe appeared smaller than the left globe, without evidence of an associated cyst or foreign body (Fig. 1H). Observation was recommended initially. One week after presentation, the patient returned noting a further decline in vision, which was attributed to progression of hypotony maculopathy. Visual acuity was 3/400 in the right eye, and the intraocular pressure was 1 mmHg. Treatment options were discussed, and the patient consented to undergo surgical repair of the defect. Intraoperatively, a 3.0-mm round area of thinned sclera was present through which uveal tissue was observed. This thinned area was imbricated with three horizontal mattress sutures (Fig. 2A) and supported with a segmental scleral buckle (Fig. 2B).
Fig. 2. A, Intraoperative photograph of primary suture imbrication of a scleral defect. B, Intraoperative photograph of a scleral buckle supporting a scleral defect. C, Postoperative photograph of a retina and coloboma supported by a scleral buckle.
One week after surgery, vision in the right eye improved to 20/80, and the intraocular pressure was 18 mmHg. Fundus examination revealed improvement of the choroidal folds, and the coloboma appeared well supported by the scleral buckle (Fig. 2C). Three weeks after surgery, vision was 20/30.
Discussion We suspect that during embryologic development there was a defect in the patient’s eye wall. With sliding of the sclera and uvea due to differential growth rates, the scleral and retinochoroidal defects ceased to be superimposed. This allowed a clinical view of intact sclera underlying the retinochoroidal coloboma and a surgical view of uvea through the
298
RETINAL CASES & BRIEF REPORTSℜ
externally ectatic sclera. A defect in the intercalary membrane may have arisen from an outer layer break at the coloboma margin combined with a central inner layer break, as described previously in pathologic specimens.4,5 Rupture of thinned sclera likely occurred spontaneously from minor trauma of which the patient was not aware, such as eye rubbing. Hypotony occurred secondarily as liquefied vitreous filtered through the retinal and scleral defects, elevating a conjunctival bleb. Vitreous strands were noted emanating from the coloboma edge by funduscopic examination, demonstrating vitreous incarceration. However, vitreous gel did not completely plug the wound or the eye would have repressurized. Therefore, sustained hypotony resulted from persistent percolation of liquefied vitreous or aqueous humor through the defect. Surgical approaches described for closure of spontaneous scleral rupture in retinochoroidal coloboma include autologous blood patch,6 tissue adhesive (cyanoacrylate glue) with scleral patch grafting,2 and primary sutured closure with scleral buckling.7 The latter method, used for our patient, provided adequate closure of the defect. This case of spontaneous scleral rupture in association with retinochoroidal coloboma highlights several important points. First, myelinated nerve fibers, retinochoroidal coloboma, and scleral coloboma in the same quadrant of an affected eye do not imply coin-
●
2008
●
VOLUME 2
●
NUMBER 4
cidence: they represent an ocular developmental abnormality. Second, persistent hypotony suggests continued flow of liquefied vitreous or aqueous through the defect. Last, the adjacent but distinct locations of the retinochoroidal coloboma and ectatic sclera provide convincing evidence for our proposed ontogenic mechanism. Key words: coloboma, hypotony, scleral fistula, scleral ectasia, scleral buckle. References 1.
2.
3.
4.
5.
6.
7.
Mori S, Komatsu H, Watari H. Spontaneous posterior bulbar perforation of congenital scleral coloboma and its surgical treatment: a case report. Ophthalmic Surg 1985;16:433–436. Gupta A, Narang S, Gupta V, et al. Successful closure of spontaneous scleral fistula in retinochoroidal coloboma. Arch Ophthalmol 2001;119:1220–1221. Viola F, Morescalchi F, Gandolfo E, Staurenghi G. Ocular hypotony secondary to spontaneously ruptured sclera in choroidal coloboma. Arch Ophthalmol 2004;122:1549–1551. Gopal L, Khan B, Jain S, Prakash VS. A clinical and optical coherence tomography study of the margins of choroidal colobomas. Ophthalmology 2007;114:571–580. Schubert HD. Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment. Trans Am Ophthalmol Soc 2005;103:457–472. Mahr MA, Garrity JA, Robertson DM, Herman DC. Ocular hypotony secondary to spontaneously ruptured posterior staphyloma. Arch Ophthalmol 2003;121:122–124. Schubert HD. Schisis-like rhegmatogenous retinal detachment associated with choroidal colobomas. Graefes Arch Clin Exp Ophthalmol 1995;233:74–79.
