CHOROIDAL FINDINGS IN BIETTI’S CRYSTALLINE DYSTROPHY Jennyfer Zerbib, MD, Raphaëlle Ores, MD, Giuseppe Querques, MD, PhD, Rislie Bouzitou-Mfoumou, MS, Eric H. Souied, MD, PhD
Purpose: To describe the choroidal findings in a patient with Bietti’s crystalline dystrophy. Methods: A 43-year-old woman with Bietti’s crystalline dystrophy underwent a complete ophthalmologic examination including enhanced depth imaging spectral domain optical coherence tomography and en face optical coherence tomography. Results: We observed a severe thinning of the choroid, 123 mm in the right eye and 110 mm in the left eye. Crystal deposits were found not only in the retina but also in the choroid. En face optical coherence tomography clearly showed the intraretinal crystals as small hyperreflective dots in the different retinal layers and in the choroid. Conclusion: Our study gives new information on the aspect and the location of crystal deposits in the choroid and the abnormalities of the outer retina associated with the disease. RETINAL CASES & BRIEF REPORTS 8:130–131, 2014
using enhanced depth imaging SD-OCT and “en face” OCT.
From the Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est, Creteil, France.
B
ietti’s crystalline dystrophy is an autosomal recessive retinal degeneration characterized by innumerable glistening intraretinal dots scattered over the fundus, first described by Bietti.1 The location of retinal crystals has been described in the retina and cornea.2,3 Spectral domain optical coherence tomography (SD-OCT) has shown that crystal deposits are observed in all the different retinal layers.2,3 The choroid is known to be atrophic in the late course of the disease.4 No description of crystals deposits in the choroid has been described so far in vivo using OCT. Using SD-OCT, we have previously described hyperreflective crystal deposits in all the different retinal layers associated with microcystic changes in this patient.2 Here, we report the choroidal findings of this patient with Bietti’s crystalline dystrophy
Case Report A 43-year-old woman affected with Bietti’s crystalline dystrophy was referred to our department. The patient signed a comprehensive consent form according to good clinical practice guidelines, before proceeding with any examinations. Her visual acuity was 20/63 in both eyes. Slit-lamp biomicroscopy revealed fine crystals in the limbal cornea bilaterally. Fundus examination showed bilateral macular pigment mottling and depigmentation, and numerous tiny refractile yellow dots scattered throughout the posterior pole and the midperiphery, associated with diffuse choroidal and retinal pigment epithelium atrophy and pigment accumulation. Spectralis SD-OCT showed the retinal crystals as tiny hyperreflective lesions localized in all retinal layers from the retinal pigment epithelium to the retinal nerve fiber layer (Figures 1, A–D), and outer retinal tubulations3 (Figure 1A) and retinal microcyst (Figure 1C). Interestingly, enhanced depth imaging OCT revealed a severe thinning of the choroid (123 mm in her right eye and 110 mm in her left eye) as compared with the average subfoveolar choroidal thickness (287 ± 76 mm) reported by Margolis and Spaide 5 in 2009. Moreover, the presence of tiny hyperreflective lesions were observed in the choroid (even though less frequently than in the retinal layers). The hyperreflective lesions were, in most cases, observed in the areas of the retinal pigment epithelium and Bruch membrane loss (Figure 1E). En face OCT clearly showed the intraretinal crystals as small
None of the authors have any financial/conflicting interests to disclose. Reprint requests: Giuseppe Querques, MD, PhD, Department of Ophthalmology, Hopital Intercommunal de Creteil, 40 Avenue de Verdun, 94010 Creteil CEDEX, France; e-mail: giuseppe.querques@ hotmail.it
130
131
EDI-OCT IN BIETTI’S CRYSTALLINE DYSTROPHY
Fig. 1. Spectral domain optical coherence tomography and en face OCT in Bietti’s crystalline dystrophy SD-OCT scans (A–D) showing the retinal crystals as tiny hyperreflective lesions localized in all retinal layers, from the retinal pigment epithelium to the retinal nerve fiber layer (arrows), outer retinal tubulations (A, asterisk), and retinal microcysts (C, arrowhead). En face OCT showing the intraretinal crystals as small hyperreflective dots in the different layers (E) and smaller hyperreflective lesions are also observed in the choriocapillaris layer.
hyperreflective dots in the different retinal layers and in the choroid (Figure 1E).
Key words: Bietti’s crystalline dystrophy, macular dystrophy, retinal crystals, retinal dystrophy, EDI, spectral domain optical coherence tomography.
Discussion In Bietti’s crystalline dystrophy, previous SD-OCT studies reported on the presence of intraretinal crystalline deposits visualized as hyperreflective dots in all the different layers (from the nerve fiber layer to the photoreceptors).2,3 A severe thinning of the choroid was previously described,4 but no crystal deposits in the choroid have been reported so far in vivo by means of OCT. In our patient, we observed a severe thinning of the choroid and several tiny hyperreflective lesions in the choroid, and in most cases, but not exclusively, in the areas of the retinal pigment epithelium and Bruch membrane loss using enhanced depth imaging OCT. These hyperreflective lesions were also visualized using en face OCT. These results are consistent with previous report of crystalloid lysosomal inclusions resembling cholesterol esters that have been detected in choroidal fibroblasts.6
References 1. Bietti GB. Su alcune forme atipiche o rare di degenerazione retinica (degenerazione tappeto retiniche e quadri morbosi similari). Boll Ocul 1937;16:1159–1244. 2. Querques G, Quijano C, Bouzitou-Mfoumou R, et al. In vivo visualization of retinal crystals in Bietti’s crystalline dystrophy by spectral domain optical coherence tomography. Ophthalmic Surg Lasers Imaging 2010;9:1–3. 3. Kojima H, Otani A, Ogino K, et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br J Ophthalmol 2012;96:390–393. 4. Yeoh J, Rahman W, Chen F, et al. Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography. Graefes Arch Clin Exp Ophthalmol 2010;248:1719–1728. 5. Margolis R, Spaide RF. A pilot study of enhanced depth imaging optical coherence tomography of the choroid in normal eyes. Am J Ophthalmol 2009;147:811–815. 6. Kaiser-Kupfer MI, Chan CC, Markello TC, et al. Clinical biochemical and pathologic correlation in Bietti’s crystalline dystrophy. Am J Ophthalmol 1994;118:569–582.
Purpose: To describe the choroidal findings in a patient with Bietti’s crystalline dystrophy. Methods: A 43-year-old woman with Bietti’s crystalline dystrophy underwent a complete ophthalmologic examination including enhanced depth imaging spectral domain optical coherence tomography and en face optical coherence tomography. Results: We observed a severe thinning of the choroid, 123 mm in the right eye and 110 mm in the left eye. Crystal deposits were found not only in the retina but also in the choroid. En face optical coherence tomography clearly showed the intraretinal crystals as small hyperreflective dots in the different retinal layers and in the choroid. Conclusion: Our study gives new information on the aspect and the location of crystal deposits in the choroid and the abnormalities of the outer retina associated with the disease. RETINAL CASES & BRIEF REPORTS 8:130–131, 2014
using enhanced depth imaging SD-OCT and “en face” OCT.
From the Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est, Creteil, France.
B
ietti’s crystalline dystrophy is an autosomal recessive retinal degeneration characterized by innumerable glistening intraretinal dots scattered over the fundus, first described by Bietti.1 The location of retinal crystals has been described in the retina and cornea.2,3 Spectral domain optical coherence tomography (SD-OCT) has shown that crystal deposits are observed in all the different retinal layers.2,3 The choroid is known to be atrophic in the late course of the disease.4 No description of crystals deposits in the choroid has been described so far in vivo using OCT. Using SD-OCT, we have previously described hyperreflective crystal deposits in all the different retinal layers associated with microcystic changes in this patient.2 Here, we report the choroidal findings of this patient with Bietti’s crystalline dystrophy
Case Report A 43-year-old woman affected with Bietti’s crystalline dystrophy was referred to our department. The patient signed a comprehensive consent form according to good clinical practice guidelines, before proceeding with any examinations. Her visual acuity was 20/63 in both eyes. Slit-lamp biomicroscopy revealed fine crystals in the limbal cornea bilaterally. Fundus examination showed bilateral macular pigment mottling and depigmentation, and numerous tiny refractile yellow dots scattered throughout the posterior pole and the midperiphery, associated with diffuse choroidal and retinal pigment epithelium atrophy and pigment accumulation. Spectralis SD-OCT showed the retinal crystals as tiny hyperreflective lesions localized in all retinal layers from the retinal pigment epithelium to the retinal nerve fiber layer (Figures 1, A–D), and outer retinal tubulations3 (Figure 1A) and retinal microcyst (Figure 1C). Interestingly, enhanced depth imaging OCT revealed a severe thinning of the choroid (123 mm in her right eye and 110 mm in her left eye) as compared with the average subfoveolar choroidal thickness (287 ± 76 mm) reported by Margolis and Spaide 5 in 2009. Moreover, the presence of tiny hyperreflective lesions were observed in the choroid (even though less frequently than in the retinal layers). The hyperreflective lesions were, in most cases, observed in the areas of the retinal pigment epithelium and Bruch membrane loss (Figure 1E). En face OCT clearly showed the intraretinal crystals as small
None of the authors have any financial/conflicting interests to disclose. Reprint requests: Giuseppe Querques, MD, PhD, Department of Ophthalmology, Hopital Intercommunal de Creteil, 40 Avenue de Verdun, 94010 Creteil CEDEX, France; e-mail: giuseppe.querques@ hotmail.it
130
131
EDI-OCT IN BIETTI’S CRYSTALLINE DYSTROPHY
Fig. 1. Spectral domain optical coherence tomography and en face OCT in Bietti’s crystalline dystrophy SD-OCT scans (A–D) showing the retinal crystals as tiny hyperreflective lesions localized in all retinal layers, from the retinal pigment epithelium to the retinal nerve fiber layer (arrows), outer retinal tubulations (A, asterisk), and retinal microcysts (C, arrowhead). En face OCT showing the intraretinal crystals as small hyperreflective dots in the different layers (E) and smaller hyperreflective lesions are also observed in the choriocapillaris layer.
hyperreflective dots in the different retinal layers and in the choroid (Figure 1E).
Key words: Bietti’s crystalline dystrophy, macular dystrophy, retinal crystals, retinal dystrophy, EDI, spectral domain optical coherence tomography.
Discussion In Bietti’s crystalline dystrophy, previous SD-OCT studies reported on the presence of intraretinal crystalline deposits visualized as hyperreflective dots in all the different layers (from the nerve fiber layer to the photoreceptors).2,3 A severe thinning of the choroid was previously described,4 but no crystal deposits in the choroid have been reported so far in vivo by means of OCT. In our patient, we observed a severe thinning of the choroid and several tiny hyperreflective lesions in the choroid, and in most cases, but not exclusively, in the areas of the retinal pigment epithelium and Bruch membrane loss using enhanced depth imaging OCT. These hyperreflective lesions were also visualized using en face OCT. These results are consistent with previous report of crystalloid lysosomal inclusions resembling cholesterol esters that have been detected in choroidal fibroblasts.6
References 1. Bietti GB. Su alcune forme atipiche o rare di degenerazione retinica (degenerazione tappeto retiniche e quadri morbosi similari). Boll Ocul 1937;16:1159–1244. 2. Querques G, Quijano C, Bouzitou-Mfoumou R, et al. In vivo visualization of retinal crystals in Bietti’s crystalline dystrophy by spectral domain optical coherence tomography. Ophthalmic Surg Lasers Imaging 2010;9:1–3. 3. Kojima H, Otani A, Ogino K, et al. Outer retinal circular structures in patients with Bietti crystalline retinopathy. Br J Ophthalmol 2012;96:390–393. 4. Yeoh J, Rahman W, Chen F, et al. Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography. Graefes Arch Clin Exp Ophthalmol 2010;248:1719–1728. 5. Margolis R, Spaide RF. A pilot study of enhanced depth imaging optical coherence tomography of the choroid in normal eyes. Am J Ophthalmol 2009;147:811–815. 6. Kaiser-Kupfer MI, Chan CC, Markello TC, et al. Clinical biochemical and pathologic correlation in Bietti’s crystalline dystrophy. Am J Ophthalmol 1994;118:569–582.
