PHOTODYNAMIC THERAPY FOR CHILDHOOD CHOROIDAL NEOVASCULAR MEMBRANE ASSOCIATED WITH BEST’S VITELLIFORM DYSTROPHY Pukhraj Rishi, MS, DO, Tarun Sharma, MD, FRCSEd, Lingam Gopal, MS, DNB, FRCSEd
Purpose: Subfoveal choroidal neovascular membrane is an uncommon cause of visual impairment in children and that caused secondary to Best’s disease is a well-known entity. However, limited experience exists in treatment of such lesions in the pediatric age group. This report describes the outcomes of treatment in three such eyes. Methods: Three eyes of two children were treated with Verteporfin photodynamic therapy. One patient was observed up to 23 months and the other for up to 2 years. Results: All three eyes were stabilized with a fair to good visual recovery. No ocular or systemic side effects were noted. Conclusion: Verteporfin photodynamic therapy may be a considered treatment option for childhood choroidal neovascular membranes secondary to Best’s disease. RETINAL CASES & BRIEF REPORTS 3:288 –292, 2009
From the Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, India.
Case Reports Case 1
B
est’s disease, also known as Best’s vitelliform macular dystrophy, is a hereditary form of progressive macular dystrophy first identified in 1905. Best’s disease classically presents in childhood with striking appearance of yellow-orange, yolk-like lesion in the macula. The lesion evolves through several stages over many years, with increasing potential for adverse visual outcome. It is an autosomal dominant disease with variable penetrance. A hallmark of the disease is a markedly abnormal electro-oculogram (EOG) in all stages of progression and in phenotypically normal carriers.
A 10-year-old boy had decreased vision in both eyes for 5 months. Family history was unremarkable. Vision recorded was 6/9, N6 in the right eye and 6/24, N6p in the left eye. Anterior segment examination was bilaterally normal. Fundus examination revealed a yellowish-gray, subfoveal lesion with subretinal fluid in both eyes (Figure 1A and D). Subretinal hemorrhage was also noted in the right eye. Fundus fluorescein angiography (FFA) was confirmatory of a classic, subfoveal choroidal neovascular membrane (CNVM) in both eyes (Figure 1B and C for the right eye and Figure 1D and E for the left eye). EOG revealed depressed Arden ratio in both eyes (OD ⫽ 97% and OS ⫽ 95%). After a detailed discussion with the family, the child underwent Vertoporfin photodynamic therapy (PDT) in both eyes, using the adult regime.1 On last follow-up at 2 years, visual acuity was 6/9, N6 in right eye and 6/6 N6 in the left eye. Clinical examination revealed a scarred, subfoveal membrane in both the eyes (Figure 2A for the right eye and Figure 2D for the left eye). This was confirmed on FFA (Figure 2B and C for the right eye and Figure 2E and F for the left eye). Optical coherence tomography (Figure 3A and 3B) revealed an elevated, scarred CNVM with a high backscatter in both the eyes. Neurosensory elevation at fovea was noted more as a result of “tent-
Reprints requests: Dr. Pukhraj Rishi, MS, DO, Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, 18, College Road, Chennai, 600006 Tamilnadu, India; e-mail: docrishi@ yahoo.co.in
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Fig. 1. Case 1: Color fundus photo of the right eye (A) and FFA (B, C) at presentation. Color fundus photo of the left eye (D) and FFA (E, F) at presentation. Active, yellowgray subfoveal CNVM can be made out in both eyes.
ing” of retina by the subfoveal scar than due to persistent leakage. The part of the retina directly overlying the summit of the scar measured 74 in the right eye and 33 in the left eye. Yet, the visual acuity was well maintained in both the eyes.
Case 2 Another 10-year-old boy presented with decreased vision for about 6 weeks. Family history was unremarkable. Visual acuity was 6/60, N18 in the right eye and 6/45, N8 in the left eye. Anterior segment examination was bilaterally normal. Fundus examination revealed a yellowish-gray, subfoveal lesion with subretinal fluid and subretinal hemorrhage in the right eye (Figure 4B). A scarred, subfoveal CNVM with retinochoroidal anastomosis was noted in the left eye (Figure 4A). EOG revealed depressed Arden ratio in both eyes (OD ⫽ 117% and OS ⫽ 118%). FFA (Figure 4C and D) and OCT were confirmed by clinical findings. After a detailed discussion with the family, the child underwent Vertoporfin PDT in
both eyes, using the adult regime.1 Two months after PDT, vision improved to 6/36⫹1, N6 but the CNVM was still active. Photodynamic therapy was repeated, and at the 3-month follow-up, the patient had stabilized vision and a regressed CNVM. (Figure 5A). Clinical findings were confirmed on FFA (Figure 5B and C). At the last follow-up, 23 months from initiation of treatment, ocular fundii were stable. Visual acuity was maintained at 6/36, N6 in the right eye.
Discussion Subfoveal CNVM is an uncommon cause of visual impairment in children. Verteporfin PDT has been reported to be safe and effective in subfoveal, idiopathic CNVMs,2,3 and those secondary to macular toxoplasmic scar3 in children with a follow-up
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Fig. 2. Case 1: Color fundus photo of the right eye 2-year (A) and FFA (B, C) at followup. Color fundus photo of the left eye 2-year (D) and FFA (E, F) at follow-up. Both eyes reveal staining of scarred, subfoveal CNVM.
Fig. 3. Case 1: Two-year follow-up OCT (A and B) reveals scarred CNVM with “tenting” of retina.
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Fig. 4. Case 2. Pretreatment color fundus photograph of the left eye (A) reveals scarred subfoveal CNVM with retinochoroidal anastomosis. The right eye (B) has active, classic subfoveal CNVM with extensive submacular hemorrhage corroborated with FFA (C, D) findings.
of 1 year2 and up to 18 months, respectively.3 Although subfoveal CNVM secondary to Best’s disease is a well-known entity, limited experience exists with PDT treatment in the pediatric age group. Andrade et al4 have reported treating one adult patient in such a situation. However, to the best of our knowledge, no such report exists for the pediatric age group. Both the children reported in this case series had a fair to good visual recovery with a reasonably long follow-up. No ocular or systemic side effects were noted. Recently, there has been a single case report of treating a CNVM related to Best’s disease in a
13-year-old child with intravitreal bevacizumab.5 It is noteworthy that administering intravitreal injections in children requires general anesthesia; each time the procedure needs to be performed; possible systemic side effects of the drug (bevacizumab) continue to be studied. In conclusion, Verteporfin PDT may be considered a treatment option in childhood CNVMs secondary to Best’s disease. Key words: children, Best’s disease, vitelliform macular dystrophy, electro-oculogram, choroidal neovascularization, photodynamic therapy.
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2.
4.
5.
Fig. 5. Case 2. At last follow-up: Color fundus photograph of right eye (A) reveals scarred subfoveal CNVM with resolution of submacular hemorrhage, corroborated with FFA (B, C) findings.
Verteporfin Roundtable 2000 and 2001 Participants, Treatment of Age-Related Macular Degeneration with Photodynamic Therapy (TAP) Study Group Principal Investigators, Verteporfin in Photodynamic Therapy (VIP) Study Group Principal Investigators. Guidelines for using verteporfin (Visudyne) in photodynamic therapy to treat choroidal neovascularisation due to age-related macular degeneration and other causes. Retina 2002;22:6 –18. Mimouni KF, Bressler SB, Bressler NM. Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in children. Am J Ophthalmol 2003;135, 90025: 590 –596. Andrade RE, Farah ME, Costa RA. PDT with verteporfin for subfoveal CNV in best disease. Am J Ophthalmol 2003;136: 1179 –1181. Leu J, Schrage NF, Degenring RF. Choroidal neovascularisation secondary to Best’s disease in a 13-year-old boy treated by intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol 2007;245:1723–1725.
Purpose: Subfoveal choroidal neovascular membrane is an uncommon cause of visual impairment in children and that caused secondary to Best’s disease is a well-known entity. However, limited experience exists in treatment of such lesions in the pediatric age group. This report describes the outcomes of treatment in three such eyes. Methods: Three eyes of two children were treated with Verteporfin photodynamic therapy. One patient was observed up to 23 months and the other for up to 2 years. Results: All three eyes were stabilized with a fair to good visual recovery. No ocular or systemic side effects were noted. Conclusion: Verteporfin photodynamic therapy may be a considered treatment option for childhood choroidal neovascular membranes secondary to Best’s disease. RETINAL CASES & BRIEF REPORTS 3:288 –292, 2009
From the Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, India.
Case Reports Case 1
B
est’s disease, also known as Best’s vitelliform macular dystrophy, is a hereditary form of progressive macular dystrophy first identified in 1905. Best’s disease classically presents in childhood with striking appearance of yellow-orange, yolk-like lesion in the macula. The lesion evolves through several stages over many years, with increasing potential for adverse visual outcome. It is an autosomal dominant disease with variable penetrance. A hallmark of the disease is a markedly abnormal electro-oculogram (EOG) in all stages of progression and in phenotypically normal carriers.
A 10-year-old boy had decreased vision in both eyes for 5 months. Family history was unremarkable. Vision recorded was 6/9, N6 in the right eye and 6/24, N6p in the left eye. Anterior segment examination was bilaterally normal. Fundus examination revealed a yellowish-gray, subfoveal lesion with subretinal fluid in both eyes (Figure 1A and D). Subretinal hemorrhage was also noted in the right eye. Fundus fluorescein angiography (FFA) was confirmatory of a classic, subfoveal choroidal neovascular membrane (CNVM) in both eyes (Figure 1B and C for the right eye and Figure 1D and E for the left eye). EOG revealed depressed Arden ratio in both eyes (OD ⫽ 97% and OS ⫽ 95%). After a detailed discussion with the family, the child underwent Vertoporfin photodynamic therapy (PDT) in both eyes, using the adult regime.1 On last follow-up at 2 years, visual acuity was 6/9, N6 in right eye and 6/6 N6 in the left eye. Clinical examination revealed a scarred, subfoveal membrane in both the eyes (Figure 2A for the right eye and Figure 2D for the left eye). This was confirmed on FFA (Figure 2B and C for the right eye and Figure 2E and F for the left eye). Optical coherence tomography (Figure 3A and 3B) revealed an elevated, scarred CNVM with a high backscatter in both the eyes. Neurosensory elevation at fovea was noted more as a result of “tent-
Reprints requests: Dr. Pukhraj Rishi, MS, DO, Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, 18, College Road, Chennai, 600006 Tamilnadu, India; e-mail: docrishi@ yahoo.co.in
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Fig. 1. Case 1: Color fundus photo of the right eye (A) and FFA (B, C) at presentation. Color fundus photo of the left eye (D) and FFA (E, F) at presentation. Active, yellowgray subfoveal CNVM can be made out in both eyes.
ing” of retina by the subfoveal scar than due to persistent leakage. The part of the retina directly overlying the summit of the scar measured 74 in the right eye and 33 in the left eye. Yet, the visual acuity was well maintained in both the eyes.
Case 2 Another 10-year-old boy presented with decreased vision for about 6 weeks. Family history was unremarkable. Visual acuity was 6/60, N18 in the right eye and 6/45, N8 in the left eye. Anterior segment examination was bilaterally normal. Fundus examination revealed a yellowish-gray, subfoveal lesion with subretinal fluid and subretinal hemorrhage in the right eye (Figure 4B). A scarred, subfoveal CNVM with retinochoroidal anastomosis was noted in the left eye (Figure 4A). EOG revealed depressed Arden ratio in both eyes (OD ⫽ 117% and OS ⫽ 118%). FFA (Figure 4C and D) and OCT were confirmed by clinical findings. After a detailed discussion with the family, the child underwent Vertoporfin PDT in
both eyes, using the adult regime.1 Two months after PDT, vision improved to 6/36⫹1, N6 but the CNVM was still active. Photodynamic therapy was repeated, and at the 3-month follow-up, the patient had stabilized vision and a regressed CNVM. (Figure 5A). Clinical findings were confirmed on FFA (Figure 5B and C). At the last follow-up, 23 months from initiation of treatment, ocular fundii were stable. Visual acuity was maintained at 6/36, N6 in the right eye.
Discussion Subfoveal CNVM is an uncommon cause of visual impairment in children. Verteporfin PDT has been reported to be safe and effective in subfoveal, idiopathic CNVMs,2,3 and those secondary to macular toxoplasmic scar3 in children with a follow-up
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Fig. 2. Case 1: Color fundus photo of the right eye 2-year (A) and FFA (B, C) at followup. Color fundus photo of the left eye 2-year (D) and FFA (E, F) at follow-up. Both eyes reveal staining of scarred, subfoveal CNVM.
Fig. 3. Case 1: Two-year follow-up OCT (A and B) reveals scarred CNVM with “tenting” of retina.
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Fig. 4. Case 2. Pretreatment color fundus photograph of the left eye (A) reveals scarred subfoveal CNVM with retinochoroidal anastomosis. The right eye (B) has active, classic subfoveal CNVM with extensive submacular hemorrhage corroborated with FFA (C, D) findings.
of 1 year2 and up to 18 months, respectively.3 Although subfoveal CNVM secondary to Best’s disease is a well-known entity, limited experience exists with PDT treatment in the pediatric age group. Andrade et al4 have reported treating one adult patient in such a situation. However, to the best of our knowledge, no such report exists for the pediatric age group. Both the children reported in this case series had a fair to good visual recovery with a reasonably long follow-up. No ocular or systemic side effects were noted. Recently, there has been a single case report of treating a CNVM related to Best’s disease in a
13-year-old child with intravitreal bevacizumab.5 It is noteworthy that administering intravitreal injections in children requires general anesthesia; each time the procedure needs to be performed; possible systemic side effects of the drug (bevacizumab) continue to be studied. In conclusion, Verteporfin PDT may be considered a treatment option in childhood CNVMs secondary to Best’s disease. Key words: children, Best’s disease, vitelliform macular dystrophy, electro-oculogram, choroidal neovascularization, photodynamic therapy.
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References 1.
2.
4.
5.
Fig. 5. Case 2. At last follow-up: Color fundus photograph of right eye (A) reveals scarred subfoveal CNVM with resolution of submacular hemorrhage, corroborated with FFA (B, C) findings.
Verteporfin Roundtable 2000 and 2001 Participants, Treatment of Age-Related Macular Degeneration with Photodynamic Therapy (TAP) Study Group Principal Investigators, Verteporfin in Photodynamic Therapy (VIP) Study Group Principal Investigators. Guidelines for using verteporfin (Visudyne) in photodynamic therapy to treat choroidal neovascularisation due to age-related macular degeneration and other causes. Retina 2002;22:6 –18. Mimouni KF, Bressler SB, Bressler NM. Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in children. Am J Ophthalmol 2003;135, 90025: 590 –596. Andrade RE, Farah ME, Costa RA. PDT with verteporfin for subfoveal CNV in best disease. Am J Ophthalmol 2003;136: 1179 –1181. Leu J, Schrage NF, Degenring RF. Choroidal neovascularisation secondary to Best’s disease in a 13-year-old boy treated by intravitreal bevacizumab. Graefes Arch Clin Exp Ophthalmol 2007;245:1723–1725.
