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Cystinosis, cataract surgery, and corneal erosions
case reports
Cystinosis, cataract surgery, and corneal erosions Daragh Kennedy Fahey, MRCOphth, Sinead Fenton, FRCSI, Quresh Mohamed, MRCOphth, Patricia Logan, FRCSI ABSTRACT A 21-year-old man presented with severe corneal cystinosis and steroid-related cataract bilaterally. Rather than combined cataract surgery and penetrating keratoplasty, the patient had uneventful phacoemulsification and intraocular lens implantation after which visual acuity improved to 6/6 in both eyes. The outcome indicates that conventional phacoemulsification is sufficient in these cases. A guarded prognosis is advised in patients with cystinosis having cataract surgery as the fundal view is often impaired and there may be associated maculopathy. J Cataract Refract Surg 2001; 27:2041–2043 © 2001 ASCRS and ESCRS
C
ystinosis is a rare autosomal recessive metabolic disease in which cystine accumulates throughout the body as a result of defective transport of cystine from lysosomes.1 Ocular manifestations include crystalline deposits in the conjunctiva, sclera, cornea, and iris as well as retinal depigmentation.2,3 Nephropathy is common and often requires renal transplantation. Subsequently, these patients are often on long-term steroids to prevent rejection and thus are prone to developing cataracts. We report a case of severe corneal cystinosis in which visual acuity improved to 6/6 in both eyes after conventional phacoemulsification of steroid-reAccepted for publication March 28, 2001. From the Ophthalmology Department, Beaumont Hospital, Dublin, Ireland. None of the authors has a proprietary or financial interest in any product mentioned. Reprint requests to Daragh Kennedy Fahey, MRCOphth, Ophthalmology Department, St. Thomas’ Hospital, Lambeth Palace Road, London SE1 7EH, England. E-mail: [email protected]. © 2001 ASCRS and ESCRS Published by Elsevier Science Inc.
lated cataracts. To our knowledge, this is the first reported case of cataract surgery in a patient with ocular cystinosis.
Case Report A 21-year-old man presented with a 7-month history of painless blurred vision and a best corrected visual acuity (BCVA) of 6/60 in both eyes. He had bilateral, full-thickness corneal crystals extending to the periphery (Figure 1) and bilateral posterior subcapsular cataract. There was no fundal view, but the red reflex was good. Although combined penetrating keratoplasty (PKP) and cataract surgery was considered, the patient had uneventful conventional phacoemulsification with implantation of a 27.0 diopter AcrySof威 intraocular lens in the left eye. There were no problems during biometry or surgery. Notably, the corneal crystals did not significantly hamper the surgeon’s view. Postoperatively, the patient achieved the target of emmetropia with an uncorrected visual acuity of 6/6. Eight months later, the second cataract was removed with almost identical visual success. A postoperative retinal examination revealed areas of depigmentation peripherally but no visible maculopathy. 0886-3350/01/$–see front matter PII S0886-3350(01)00882-3
CASE REPORTS: FAHEY
Figure 1. (Fahey) Corneal crystals in a 21-year-old man with cystinosis.
Figure 2.
(Fahey) Corneal abrasions in a 21-year-old man with
cystinosis.
Three weeks after the first cataract operation, the patient reported grittiness, photophobia, and intermittent blurring of vision in the left eye and was found to have unusual patchy corneal erosions (Figure 2). These were treated with acetylcysteine 5% and a lubricant gel, which improved the symptoms. However, the erosions remained.
Discussion Combined PKP and cataract extraction was considered in this case. The relative contribution of the corneal crystals and the cataract to the poor visual acuity was unknown. It was also uncertain whether the surgeon would have a good enough view for safe surgery. The excellent visual outcome suggests that corneal crystals do not significantly affect visual acuity or surgical difficulty. Dufier et al.3 showed that the main cause of poor vision in these patients is the macular involvement. If excessive photophobia or a dense cataract precludes a good macular examination, the patient should be given a guarded prognosis. The role of an electroretinogram, an 2042
electrooculogram, and dark-adaptation tests is debatable; the results may be normal even if there is clinical evidence of peripheral retinopathy.4 Fluorescein angiography may be a better indicator of visual prognosis. Sanderson et al.5 describe 2 sisters with yellow mottling and depigmentation of the macula in both eyes. The BCVAs were 20/40 and 20/50, and a fluorescein angiogram revealed window defects corresponding to the patches of depigmentation, indicating the absence of retinal pigment epithelium in these areas. In this case, a fluorescein angiogram would not have been of value because of the poor red reflex. Corneal abrasions are common in patients with cystinosis.2,3,6 Photophobia is another frequent symptom and is probably caused when the corneal crystals disperse the light, although corneal erosions may play a role.7,8 Our patient’s photophobia worsened after cataract surgery, suggesting a prior protective effect of the cataract that counteracted corneal light scatter. Dufier et al.3 followed 25 patients with cystinosis and showed that the average age of photophobia was 3 to 4 years and that this corresponded with the development of superficial punctate keratopathy. Oral cysteamine is used to prevent the systemic buildup of cystine; however, Gahl et al.9 demonstrated that it has no effect on reducing the density of corneal crystals. Topical cysteamine is effective in decreasing corneal crystal concentration, healing the epithelial defect, and improving visual symptoms such as photophobia and blepharospasm.7 Extendedwear soft contact lenses have been used to provide instant symptomatic relief, and some believe they help heal corneal erosions.10 Phacoemulsification in patients with cystinosis can be successful despite extensive corneal crystals. This case suggests that when there are corneal opacities and a cataract, consideration should be given to removing the cataract first rather than automatically embarking on
J CATARACT REFRACT SURG—VOL 27, DECEMBER 2001
CASE REPORTS: FAHEY
a triple procedure, particularly if the loss of vision is recent. In cystinosis, it appears that the corneal crystals do not significantly impair visual acuity; however, a guarded prognosis is advisable because there may be associated maculopathy. When the retinal view is poor, a fluorescein angiogram may help determine the prognosis, although the red reflex may be too poor. If cataract surgery is thought to be technically feasible, it might be worthwhile to consider it first before performing PKP. Penetrating keratoplasty should be reserved for cases in which the surgeon believes that without the graft, there will be no improvement in vision. Photophobia is common, and its etiology is probably secondary to the corneal crystals. Lubricants, soft contact lens, and topical cysteamine provide symptomatic relief of photophobia, and the latter 2 methods reduce the concentration of corneal crystals and improve the corneal erosions.
References 1. Gahl WA, Schneider JA, Aula P. Lysosomal transport disorders: cystinosis and sialic acid storage disorders. In: Scriver CR, Beaudet AL, Sly WS, eds, The Metabolic and Molecular Bases of Inherited Diseases. New York, NY, McGraw-Hill, 1995; 3763–3797
2. Richler M, Milot J, Quigley M, O’Regan S. Ocular manifestations of nephropathic cystinosis; the French–Canadian experience in a genetically homogenous population. Arch Ophthalmol 1991; 109:359 –362 3. Dufier JL, Dhermy P, Gubler MC, et al. Ocular changes in long-term evolution of infantile cystinosis. Ophthalmic Paediatr Genet 1987; 8:131–137 4. Wong VG, Lietman PS, Seegmiller JE. Alterations of pigment epithelium in cystinosis. Arch Ophthalmol 1967; 77:361–369 5. Sanderson PO, Kuwabara T, Stark WJ, et al. Cystinosis; a clinical, histopathologic, and ultrastructural study. Arch Ophthalmol 1974; 91:270 –274 6. Katz B, Melles RB, Schneider JA. Recurrent crystal deposition after keratoplasty in nephropathic cystinosis (letter). Am J Ophthalmol 1987; 104:190 –191 7. Bradbury JA, Danjoux J-P, Voller J, et al. A randomised placebo-controlled trial of topical cysteamine therapy in patients with nephropathic cystinosis. Eye 1991; 5:755–760 8. Blanksma LJ, Jansonius NM, Reitsma-Bierens WCC. Cysteamin eyedrops in three patients with nephropathic cystinosis. Doc Ophthalmol 1996; 92:51–53 9. Gahl WA, Reed GF, Thoene JG, et al. Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 1987; 316:971–977 10. Elder MJ, Astin CLK. Recurrent corneal erosion in cystinosis. J Pediatr Ophthalmol Strabismus 1994; 31:270 – 271
J CATARACT REFRACT SURG—VOL 27, DECEMBER 2001
2043
Cystinosis, cataract surgery, and corneal erosions Daragh Kennedy Fahey, MRCOphth, Sinead Fenton, FRCSI, Quresh Mohamed, MRCOphth, Patricia Logan, FRCSI ABSTRACT A 21-year-old man presented with severe corneal cystinosis and steroid-related cataract bilaterally. Rather than combined cataract surgery and penetrating keratoplasty, the patient had uneventful phacoemulsification and intraocular lens implantation after which visual acuity improved to 6/6 in both eyes. The outcome indicates that conventional phacoemulsification is sufficient in these cases. A guarded prognosis is advised in patients with cystinosis having cataract surgery as the fundal view is often impaired and there may be associated maculopathy. J Cataract Refract Surg 2001; 27:2041–2043 © 2001 ASCRS and ESCRS
C
ystinosis is a rare autosomal recessive metabolic disease in which cystine accumulates throughout the body as a result of defective transport of cystine from lysosomes.1 Ocular manifestations include crystalline deposits in the conjunctiva, sclera, cornea, and iris as well as retinal depigmentation.2,3 Nephropathy is common and often requires renal transplantation. Subsequently, these patients are often on long-term steroids to prevent rejection and thus are prone to developing cataracts. We report a case of severe corneal cystinosis in which visual acuity improved to 6/6 in both eyes after conventional phacoemulsification of steroid-reAccepted for publication March 28, 2001. From the Ophthalmology Department, Beaumont Hospital, Dublin, Ireland. None of the authors has a proprietary or financial interest in any product mentioned. Reprint requests to Daragh Kennedy Fahey, MRCOphth, Ophthalmology Department, St. Thomas’ Hospital, Lambeth Palace Road, London SE1 7EH, England. E-mail: [email protected]. © 2001 ASCRS and ESCRS Published by Elsevier Science Inc.
lated cataracts. To our knowledge, this is the first reported case of cataract surgery in a patient with ocular cystinosis.
Case Report A 21-year-old man presented with a 7-month history of painless blurred vision and a best corrected visual acuity (BCVA) of 6/60 in both eyes. He had bilateral, full-thickness corneal crystals extending to the periphery (Figure 1) and bilateral posterior subcapsular cataract. There was no fundal view, but the red reflex was good. Although combined penetrating keratoplasty (PKP) and cataract surgery was considered, the patient had uneventful conventional phacoemulsification with implantation of a 27.0 diopter AcrySof威 intraocular lens in the left eye. There were no problems during biometry or surgery. Notably, the corneal crystals did not significantly hamper the surgeon’s view. Postoperatively, the patient achieved the target of emmetropia with an uncorrected visual acuity of 6/6. Eight months later, the second cataract was removed with almost identical visual success. A postoperative retinal examination revealed areas of depigmentation peripherally but no visible maculopathy. 0886-3350/01/$–see front matter PII S0886-3350(01)00882-3
CASE REPORTS: FAHEY
Figure 1. (Fahey) Corneal crystals in a 21-year-old man with cystinosis.
Figure 2.
(Fahey) Corneal abrasions in a 21-year-old man with
cystinosis.
Three weeks after the first cataract operation, the patient reported grittiness, photophobia, and intermittent blurring of vision in the left eye and was found to have unusual patchy corneal erosions (Figure 2). These were treated with acetylcysteine 5% and a lubricant gel, which improved the symptoms. However, the erosions remained.
Discussion Combined PKP and cataract extraction was considered in this case. The relative contribution of the corneal crystals and the cataract to the poor visual acuity was unknown. It was also uncertain whether the surgeon would have a good enough view for safe surgery. The excellent visual outcome suggests that corneal crystals do not significantly affect visual acuity or surgical difficulty. Dufier et al.3 showed that the main cause of poor vision in these patients is the macular involvement. If excessive photophobia or a dense cataract precludes a good macular examination, the patient should be given a guarded prognosis. The role of an electroretinogram, an 2042
electrooculogram, and dark-adaptation tests is debatable; the results may be normal even if there is clinical evidence of peripheral retinopathy.4 Fluorescein angiography may be a better indicator of visual prognosis. Sanderson et al.5 describe 2 sisters with yellow mottling and depigmentation of the macula in both eyes. The BCVAs were 20/40 and 20/50, and a fluorescein angiogram revealed window defects corresponding to the patches of depigmentation, indicating the absence of retinal pigment epithelium in these areas. In this case, a fluorescein angiogram would not have been of value because of the poor red reflex. Corneal abrasions are common in patients with cystinosis.2,3,6 Photophobia is another frequent symptom and is probably caused when the corneal crystals disperse the light, although corneal erosions may play a role.7,8 Our patient’s photophobia worsened after cataract surgery, suggesting a prior protective effect of the cataract that counteracted corneal light scatter. Dufier et al.3 followed 25 patients with cystinosis and showed that the average age of photophobia was 3 to 4 years and that this corresponded with the development of superficial punctate keratopathy. Oral cysteamine is used to prevent the systemic buildup of cystine; however, Gahl et al.9 demonstrated that it has no effect on reducing the density of corneal crystals. Topical cysteamine is effective in decreasing corneal crystal concentration, healing the epithelial defect, and improving visual symptoms such as photophobia and blepharospasm.7 Extendedwear soft contact lenses have been used to provide instant symptomatic relief, and some believe they help heal corneal erosions.10 Phacoemulsification in patients with cystinosis can be successful despite extensive corneal crystals. This case suggests that when there are corneal opacities and a cataract, consideration should be given to removing the cataract first rather than automatically embarking on
J CATARACT REFRACT SURG—VOL 27, DECEMBER 2001
CASE REPORTS: FAHEY
a triple procedure, particularly if the loss of vision is recent. In cystinosis, it appears that the corneal crystals do not significantly impair visual acuity; however, a guarded prognosis is advisable because there may be associated maculopathy. When the retinal view is poor, a fluorescein angiogram may help determine the prognosis, although the red reflex may be too poor. If cataract surgery is thought to be technically feasible, it might be worthwhile to consider it first before performing PKP. Penetrating keratoplasty should be reserved for cases in which the surgeon believes that without the graft, there will be no improvement in vision. Photophobia is common, and its etiology is probably secondary to the corneal crystals. Lubricants, soft contact lens, and topical cysteamine provide symptomatic relief of photophobia, and the latter 2 methods reduce the concentration of corneal crystals and improve the corneal erosions.
References 1. Gahl WA, Schneider JA, Aula P. Lysosomal transport disorders: cystinosis and sialic acid storage disorders. In: Scriver CR, Beaudet AL, Sly WS, eds, The Metabolic and Molecular Bases of Inherited Diseases. New York, NY, McGraw-Hill, 1995; 3763–3797
2. Richler M, Milot J, Quigley M, O’Regan S. Ocular manifestations of nephropathic cystinosis; the French–Canadian experience in a genetically homogenous population. Arch Ophthalmol 1991; 109:359 –362 3. Dufier JL, Dhermy P, Gubler MC, et al. Ocular changes in long-term evolution of infantile cystinosis. Ophthalmic Paediatr Genet 1987; 8:131–137 4. Wong VG, Lietman PS, Seegmiller JE. Alterations of pigment epithelium in cystinosis. Arch Ophthalmol 1967; 77:361–369 5. Sanderson PO, Kuwabara T, Stark WJ, et al. Cystinosis; a clinical, histopathologic, and ultrastructural study. Arch Ophthalmol 1974; 91:270 –274 6. Katz B, Melles RB, Schneider JA. Recurrent crystal deposition after keratoplasty in nephropathic cystinosis (letter). Am J Ophthalmol 1987; 104:190 –191 7. Bradbury JA, Danjoux J-P, Voller J, et al. A randomised placebo-controlled trial of topical cysteamine therapy in patients with nephropathic cystinosis. Eye 1991; 5:755–760 8. Blanksma LJ, Jansonius NM, Reitsma-Bierens WCC. Cysteamin eyedrops in three patients with nephropathic cystinosis. Doc Ophthalmol 1996; 92:51–53 9. Gahl WA, Reed GF, Thoene JG, et al. Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 1987; 316:971–977 10. Elder MJ, Astin CLK. Recurrent corneal erosion in cystinosis. J Pediatr Ophthalmol Strabismus 1994; 31:270 – 271
J CATARACT REFRACT SURG—VOL 27, DECEMBER 2001
2043