MANAGEMENT OF MACULAR HOLE WITH CHOROIDAL COLOBOMA Nadeem Ahmad, FRCOphth,* Richard M. Sheard, FRCOphth†
Purpose: Choroidal colobomas represent failure of closure of the fetal fissure during embryogenesis. Eyes with colobomas can develop complex retinal detachments. We present a case of a patient presenting with a macular hole in her only useful eye with an extramacular choroidal coloboma. Methods: A 56-year-old woman was referred with a 3-month history of central distortion and blurring of vision in her right eye. The left eye was amblyopic with microphthalmos. She was found to have a Stage 2 macular hole in her right eye with a large inferonasal coloboma extending underneath the inferior arcade. The patient underwent vitrectomy with induction of a posterior vitreous detachment, internal limiting membrane peeling, and insertion of C2F6 gas. Results: During the vitrectomy, there was some difficulty in inducing a posterior vitreous detachment along the edges of the coloboma, but otherwise, the stronger vitreous adhesion did not interfere with the procedure. The patient responded well to surgery, and the macular hole closed. Conclusion: The occurrence of a macular hole in an eye with choroidal coloboma has not been previously described. The presence of a coloboma causes uncertainty about performing a vitrectomy, because colobomatous eyes are at risk of retinal detachment. This case demonstrates that vitrectomy and induction of a posterior vitreous detachment does not necessarily lead to retinal detachments in such cases, and successful management of a condition like macular holes is possible in the presence of retinal coloboma. RETINAL CASES & BRIEF REPORTS 4:78 – 80, 2010
From the *Vitreoretinal Department, Moorfields Eye Hospital, London; and the †Ophthalmology Department, Royal Hallamshire Hospital, Sheffield, United Kingdom.
vitreous detachment (PVD). After obtaining informed consent, the patient decided to go ahead with surgery. The patient underwent vitrectomy with induction of PVD and membrane blue-assisted peeling of internallimiting membrane under a general anesthetic (Figure 2). The edge of the coloboma was seen to be lifting up during induction of PVD with an apparent absence of posterior hyaloid membrane over the coloboma itself. The internal-limiting membrane peeling was uneventful. No tears were found on internal search, and laser retinopexy along the coloboma edge was not considered necessary. The eye was tamponaded with 16% C2F6, and the patient was asked to posture face down for 5 days. At 3 months follow-up, the macular hole was closed, and vision had improved to 6/18. An optical coherence tomography scan confirmed the closure of the macular hole (Figure 3).
A
56-year-old woman was referred to the retinal service with a 3-month history of blurred vision and central distortion. Ocular history included a diagnosis of bilateral choroidal colobomas, the blind left eye being microphthalmic related to a colobomatous defect. Her visual acuity in the right eye was 6/24 with normal anterior segment. Fundus examination showed a large choroidal coloboma with a full-thickness Stage 2 macular hole (Figure 1). There was no posterior Neither of the authors have any proprietary interest in the study. Presented at the BEAVRS (British and Eire Vitreo-Retinal Surgeons) meeting 2006 and as a poster at the 7th EURETINA Congress, Monte Carlo, Monaco, May 17–20, 2007. Reprint requests: Nadeem Ahmad, FRCOphth, Department of Vitreoretinal, Moorfields Eye Hospital, London EC1V 2PD, UK; e-mail: [email protected]
Comment Choroidal colobomas are rare congenital malformations related to failure of closure of the embryonic 78
MACULAR HOLE WITH CHOROIDAL COLOBOMA
79
Fig. 3. Optical coherence tomographic scan showing preoperative (top) and postoperative (bottom) appearances of the macular hole.
Fig. 1. Color montage showing the presence of a full-thickness macular hole and the extensive choroidal coloboma.
fissure. The more severe colobomas tend to be associated with multiple lethal malformations. Moderate or isolated colobomas can cause a varying degree of visual loss depending on macular or optic nerve involvement. These patients usually present in child-
Fig. 2. Steps during the surgery—induction of PVD with red arrows showing the edge of posterior hyaloid membrane, and green arrows showing its shadow (top left). Membrane blue staining with dye flowing into the coloboma cavity (top right). Internal limiting membrane peeling (bottom left), and internal search confirming the absence of tears (bottom right).
hood with visible structural abnormalities, leukocoria, poor vision, nystagmus, or squint. In our patient, the macula was spared by the malformation. Patnaik and Kalsi1 and Jesberg and Schepens2 state that a further 23% to 42% of these patients eventually develop retinal detachments, usually during young adulthood. Schubert3 and Gopal et al4 describe that the structure of colobomas consists of an absence of the choroid, retinal pigment epithelium and the outer retinal layers with the inner retinal layer continuing as an intercalary membrane with loss of the normal layered structure and thickness. Atrophic holes developing either within this intercalary membrane or elsewhere in the retinal periphery combined with abnormally firm vitreous adhesions to the edge of the coloboma can lead to retinal detachments. Pal et al5 stress that surgical management of these detachments can be complex and the final visual outcomes poor. The presence of a macular hole in an eye with an extensive choroidal coloboma thus poses an interesting challenge. Whereas the coloboma forms at 33 days, the fovea forms between 6 months and 4 years after conception. Macular sparing by the malformation is a precondition of normal foveal development and subsequent hole formation. After the pioneering work of Wendel et al,6 the current treatment for macular holes is aimed at relieving vitreofoveal traction and to promote flattening and reapposition of the macular hole edges by intraocular tamponade. Vitrectomy with intraocular gas tamponade was shown to significantly improve the rate of both anatomic closure and visual function in such eyes by Ezra and Gregor.7 The induction of PVD, if not already present, especially along the edge of the
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coloboma, can cause breaks in both the intercalary membrane and the point of reversal. This case demonstrates that in the presence of a choroidal coloboma, vitrectomy and induction of a PVD does not necessarily lead to retinal detachments, and successful management is possible in the presence of macula-sparing coloboma. Key words: choroidal, coloboma, macular hole, vitrectomy. References 1. 2.
Patnaik B, Kalsi R. Retinal detachment with coloboma of the choroid. Indian J Ophthalmol 1981;29:345–349. Jesberg D, Schepens C. Retinal detachment associated with coloboma of the choroid. Arch Ophthalmol 1961;65:163–173.
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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. 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. Pal N, Azad RV, Sharma YR. Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. Indian J Ophthalmol 2006;54:85– 88. Wendel RT, Patel AC, Kelly NE, Salzano TC, Wells JW, Novack GD. Vitreous surgery for macular holes. Ophthalmology 1993;100:1671–1676. Ezra E, Gregor ZJ. Surgery for idiopathic full-thickness macular hole: two-year results of a randomized clinical trial comparing natural history, vitrectomy, and vitrectomy plus autologous serum: Moorfields Macular Hole Study Group Report no. 1. Arch Ophthalmol 2004;122:224 –236.
Purpose: Choroidal colobomas represent failure of closure of the fetal fissure during embryogenesis. Eyes with colobomas can develop complex retinal detachments. We present a case of a patient presenting with a macular hole in her only useful eye with an extramacular choroidal coloboma. Methods: A 56-year-old woman was referred with a 3-month history of central distortion and blurring of vision in her right eye. The left eye was amblyopic with microphthalmos. She was found to have a Stage 2 macular hole in her right eye with a large inferonasal coloboma extending underneath the inferior arcade. The patient underwent vitrectomy with induction of a posterior vitreous detachment, internal limiting membrane peeling, and insertion of C2F6 gas. Results: During the vitrectomy, there was some difficulty in inducing a posterior vitreous detachment along the edges of the coloboma, but otherwise, the stronger vitreous adhesion did not interfere with the procedure. The patient responded well to surgery, and the macular hole closed. Conclusion: The occurrence of a macular hole in an eye with choroidal coloboma has not been previously described. The presence of a coloboma causes uncertainty about performing a vitrectomy, because colobomatous eyes are at risk of retinal detachment. This case demonstrates that vitrectomy and induction of a posterior vitreous detachment does not necessarily lead to retinal detachments in such cases, and successful management of a condition like macular holes is possible in the presence of retinal coloboma. RETINAL CASES & BRIEF REPORTS 4:78 – 80, 2010
From the *Vitreoretinal Department, Moorfields Eye Hospital, London; and the †Ophthalmology Department, Royal Hallamshire Hospital, Sheffield, United Kingdom.
vitreous detachment (PVD). After obtaining informed consent, the patient decided to go ahead with surgery. The patient underwent vitrectomy with induction of PVD and membrane blue-assisted peeling of internallimiting membrane under a general anesthetic (Figure 2). The edge of the coloboma was seen to be lifting up during induction of PVD with an apparent absence of posterior hyaloid membrane over the coloboma itself. The internal-limiting membrane peeling was uneventful. No tears were found on internal search, and laser retinopexy along the coloboma edge was not considered necessary. The eye was tamponaded with 16% C2F6, and the patient was asked to posture face down for 5 days. At 3 months follow-up, the macular hole was closed, and vision had improved to 6/18. An optical coherence tomography scan confirmed the closure of the macular hole (Figure 3).
A
56-year-old woman was referred to the retinal service with a 3-month history of blurred vision and central distortion. Ocular history included a diagnosis of bilateral choroidal colobomas, the blind left eye being microphthalmic related to a colobomatous defect. Her visual acuity in the right eye was 6/24 with normal anterior segment. Fundus examination showed a large choroidal coloboma with a full-thickness Stage 2 macular hole (Figure 1). There was no posterior Neither of the authors have any proprietary interest in the study. Presented at the BEAVRS (British and Eire Vitreo-Retinal Surgeons) meeting 2006 and as a poster at the 7th EURETINA Congress, Monte Carlo, Monaco, May 17–20, 2007. Reprint requests: Nadeem Ahmad, FRCOphth, Department of Vitreoretinal, Moorfields Eye Hospital, London EC1V 2PD, UK; e-mail: [email protected]
Comment Choroidal colobomas are rare congenital malformations related to failure of closure of the embryonic 78
MACULAR HOLE WITH CHOROIDAL COLOBOMA
79
Fig. 3. Optical coherence tomographic scan showing preoperative (top) and postoperative (bottom) appearances of the macular hole.
Fig. 1. Color montage showing the presence of a full-thickness macular hole and the extensive choroidal coloboma.
fissure. The more severe colobomas tend to be associated with multiple lethal malformations. Moderate or isolated colobomas can cause a varying degree of visual loss depending on macular or optic nerve involvement. These patients usually present in child-
Fig. 2. Steps during the surgery—induction of PVD with red arrows showing the edge of posterior hyaloid membrane, and green arrows showing its shadow (top left). Membrane blue staining with dye flowing into the coloboma cavity (top right). Internal limiting membrane peeling (bottom left), and internal search confirming the absence of tears (bottom right).
hood with visible structural abnormalities, leukocoria, poor vision, nystagmus, or squint. In our patient, the macula was spared by the malformation. Patnaik and Kalsi1 and Jesberg and Schepens2 state that a further 23% to 42% of these patients eventually develop retinal detachments, usually during young adulthood. Schubert3 and Gopal et al4 describe that the structure of colobomas consists of an absence of the choroid, retinal pigment epithelium and the outer retinal layers with the inner retinal layer continuing as an intercalary membrane with loss of the normal layered structure and thickness. Atrophic holes developing either within this intercalary membrane or elsewhere in the retinal periphery combined with abnormally firm vitreous adhesions to the edge of the coloboma can lead to retinal detachments. Pal et al5 stress that surgical management of these detachments can be complex and the final visual outcomes poor. The presence of a macular hole in an eye with an extensive choroidal coloboma thus poses an interesting challenge. Whereas the coloboma forms at 33 days, the fovea forms between 6 months and 4 years after conception. Macular sparing by the malformation is a precondition of normal foveal development and subsequent hole formation. After the pioneering work of Wendel et al,6 the current treatment for macular holes is aimed at relieving vitreofoveal traction and to promote flattening and reapposition of the macular hole edges by intraocular tamponade. Vitrectomy with intraocular gas tamponade was shown to significantly improve the rate of both anatomic closure and visual function in such eyes by Ezra and Gregor.7 The induction of PVD, if not already present, especially along the edge of the
RETINAL CASES & BRIEF REPORTSℜ
80
coloboma, can cause breaks in both the intercalary membrane and the point of reversal. This case demonstrates that in the presence of a choroidal coloboma, vitrectomy and induction of a PVD does not necessarily lead to retinal detachments, and successful management is possible in the presence of macula-sparing coloboma. Key words: choroidal, coloboma, macular hole, vitrectomy. References 1. 2.
Patnaik B, Kalsi R. Retinal detachment with coloboma of the choroid. Indian J Ophthalmol 1981;29:345–349. Jesberg D, Schepens C. Retinal detachment associated with coloboma of the choroid. Arch Ophthalmol 1961;65:163–173.
3.
4.
5.
6.
7.
●
2010
●
VOLUME 4
●
NUMBER 1
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. 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. Pal N, Azad RV, Sharma YR. Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. Indian J Ophthalmol 2006;54:85– 88. Wendel RT, Patel AC, Kelly NE, Salzano TC, Wells JW, Novack GD. Vitreous surgery for macular holes. Ophthalmology 1993;100:1671–1676. Ezra E, Gregor ZJ. Surgery for idiopathic full-thickness macular hole: two-year results of a randomized clinical trial comparing natural history, vitrectomy, and vitrectomy plus autologous serum: Moorfields Macular Hole Study Group Report no. 1. Arch Ophthalmol 2004;122:224 –236.
