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Best Vitelliform Makular Distrofili Bir Çocukta Optik Koherans Tomografi İle Sikatrisyel Evrenin Gösterilmesi

Yıl 2024, Cilt: 46 Sayı: 4, 651 - 655, 16.07.2024
https://doi.org/10.20515/otd.1429982

Öz

Best VitellifomMakulaDistrofisi (BVMD), nadir görülen kalıtsal bir makuladistrofisidir. BVMD'nin klinik değerlendirmesinde çeşitli evreleme sistemleri uygulanmaktadır. Bu olgu sunumunda 9 yaşında bir erkek çocukta sikatrisyel evrenin varlığının gösterilmesi amaçlanmaktadır. 9 yaşında erkek çocuk, sağ gözünde görme keskinliği azalması şikayetiyle Eskişehir Yunus Emre Devlet Hastanesi Göz Hastalıkları kliniğine başvurdu. Hastanın soy geçmişi sorgulandığında, ailedeki diğer bireylerin de görme kaybı nedeniyle başka bir merkezde takip edildiği öğrenildi. BMVD tanısı elektrofizyolojik testler ve ek klinik çalışmalar kullanılarak doğrulandı. Optik koherenstomografide her iki gözde subretinal sıvı ile uyumlu hiporeflektif lezyon izlendi. Ayrıca sağ gözde tümsek şeklinde subretinalhiporeflektif lezyon tespit edildi. BVMD'li olgularında hastalığın erken evrelerinde görme keskinliği genellikle stabildir. Ancak görme bozukluğunun varlığı genellikle koroidalneovaskülermembran gelişiminin bir işareti olarak düşünülür. Nadir de olsa hastalığın ileri evrelerinde görülen sikatrisyel evre küçük çocuklarda da görülebilmektedir. Özellikle çocuklarda ambliyopi riski nedeniyle koroidalneovaskülermembranınsikatrisyel evreden ayırt edilmesi ve doğru tedavi planlaması yapılması gerekmektedir.

Kaynakça

  • 1. Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. ProgRetinEyeRes. 2009 May;28(3):187-205.
  • 2. Tewari R, Kumar V, Ravani R, Dubey D, Chandra P, Kumar A. Macular hole-associated retinal detachment in Best vitelliform dystrophy: Series of two cases and literature review. Indian J Ophthalmol. 2018 May;66(5):708-711.
  • 3. Lin Y, Li T, Ma C, Gao H, Chen C, Zhu Y, Liu B, Lian Y, Huang Y, Li H, Wu Q, Liang X, Jin C, Huang X, Ye J, Lu L. Geneticvariations in Bestrophin 1 and associated clinical findings in two Chinese patients with juvenileonset and adult onset best vitelliform macular dystrophy. MolMedRep. 2018 Jan;17(1):225-233.
  • 4. Hartzell C, Qu Z, Putzier I, Artinian L, Chien LT, Cui Y. Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda). 2005;20:292-302. Review. PubMed PMID: 16174869.
  • 5. Clemett R. Vitelliform dystrophy: long-term observations on New Zealand pedigrees. Aust N Z J Ophthalmol. 1991;19(3):221-7. PubMed PMID: 1958368
  • 6. Chung MM, Oh KT, Streb LM, Kimura AE, Stone EM. Visual outcome following subretinal hemorrhage in Best disease. Retina. 2001;21(6):575-80. PubMed PMID: 11756879
  • 7. Gurelik G. Herediter Makula Hastalıkları. Ret-Vit. 2008;16.165-181
  • 8. Céspedes A, Pérez-De-Arcelus M, García-Arumí J. [Best's vitelliform macular dystrophy associated with choroidal neovascularization]. ArchSocEspOftalmol. 2012;87(10):333-6.
  • 9. Jale Menteş, Mine Esen Baris. A case report: Multimodal Imaging Characteristics of Quiescent Type 1 Neovascularization in Best Vitelliform Macular Dystrophy. 2021; 51(3): 188-191
  • 10. Andrade RE, Farah ME, Cardillo JA, Höfling-Lima AL, Uno F, Costa RA. Optical coherence tomography in choroidal neovascular membrane associated with Best's vitelliform dystrophy. ActaOphthalmolScand. 2002;80(2):216-8. PubMed PMID: 11952492.
  • 11. Batıoğlu F, Yanık Ö, Demirel S, Çağlar Ç, Özmert E. Pakikoroid neovaskülopatinin eşlik ettiği bir Best hastalığı olgusu. Turk J Oftalmol. 2019;49:226-229.
  • 12. Guziewicz KE, Sinha D, Gómez NM, Zorych K, Dutrow EV, Dhingra A, Mullins RF, Stone EM, Gamm DM, Boesze-Battaglia K, Aguirre GD. Bestrophinopathy: An RPE-photoreceptor interface disease. Prog Retin Eye Res. 2017 ;58:70-88.

Demonstrationof CicatricialStagewith Optical CoherenceTomography in A Child with Best VitelliformMacularDystrophy

Yıl 2024, Cilt: 46 Sayı: 4, 651 - 655, 16.07.2024
https://doi.org/10.20515/otd.1429982

Öz

Best vitelliform macular dystrophy (BVMD) is a rare hereditary macular dystrophy. Various staging systems are performed in the clinical evaluation of BVMD. In this case report, it is aimed to demonstrate the presence of cicatricial stage in a 9-year-old boy. A 9-year-old boy was applied to our Eskisehir YunusEmre State Hospital OphthalmologyClinic with decreased visual acuity in his right eye. When the family history of the patient was questioned, it was learned that the other family members were also followed in another center due to loss of vision. BMVD diagnosis was confirmed by using electrophysiological tests and additional clinical studies. In optical coherence tomography, a hyporeflective lesion consistent with subretinal fluid was observed for both eyes. Additionally, a hump-shaped subretinalhyporeflective lesion was found in the right eye. Visual acuity is generally stable in the early stages of the disease for patients with BVMD, but the presence of a visual impairment is usually thought as a sign of the development of a choroidal neovascular membrane. Although rare, however, cicatricial stage, which is observed in the advanced stages of the disease, can be seen in small children. Distinguishing choroidal neovascular membrane from the cicatricial stage is necessary especially in children due to the risk of amblyopia and to make an accurate treatment planning.

Etik Beyan

WMA DECLARATION OF HELSINKI – ETHICAL PRINCIPLES FOR MEDICAL RESEARCH INVOLVING HUMAN SUBJECTS are fully complied with and there is no conflict of interest of the author/authors

Kaynakça

  • 1. Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. ProgRetinEyeRes. 2009 May;28(3):187-205.
  • 2. Tewari R, Kumar V, Ravani R, Dubey D, Chandra P, Kumar A. Macular hole-associated retinal detachment in Best vitelliform dystrophy: Series of two cases and literature review. Indian J Ophthalmol. 2018 May;66(5):708-711.
  • 3. Lin Y, Li T, Ma C, Gao H, Chen C, Zhu Y, Liu B, Lian Y, Huang Y, Li H, Wu Q, Liang X, Jin C, Huang X, Ye J, Lu L. Geneticvariations in Bestrophin 1 and associated clinical findings in two Chinese patients with juvenileonset and adult onset best vitelliform macular dystrophy. MolMedRep. 2018 Jan;17(1):225-233.
  • 4. Hartzell C, Qu Z, Putzier I, Artinian L, Chien LT, Cui Y. Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda). 2005;20:292-302. Review. PubMed PMID: 16174869.
  • 5. Clemett R. Vitelliform dystrophy: long-term observations on New Zealand pedigrees. Aust N Z J Ophthalmol. 1991;19(3):221-7. PubMed PMID: 1958368
  • 6. Chung MM, Oh KT, Streb LM, Kimura AE, Stone EM. Visual outcome following subretinal hemorrhage in Best disease. Retina. 2001;21(6):575-80. PubMed PMID: 11756879
  • 7. Gurelik G. Herediter Makula Hastalıkları. Ret-Vit. 2008;16.165-181
  • 8. Céspedes A, Pérez-De-Arcelus M, García-Arumí J. [Best's vitelliform macular dystrophy associated with choroidal neovascularization]. ArchSocEspOftalmol. 2012;87(10):333-6.
  • 9. Jale Menteş, Mine Esen Baris. A case report: Multimodal Imaging Characteristics of Quiescent Type 1 Neovascularization in Best Vitelliform Macular Dystrophy. 2021; 51(3): 188-191
  • 10. Andrade RE, Farah ME, Cardillo JA, Höfling-Lima AL, Uno F, Costa RA. Optical coherence tomography in choroidal neovascular membrane associated with Best's vitelliform dystrophy. ActaOphthalmolScand. 2002;80(2):216-8. PubMed PMID: 11952492.
  • 11. Batıoğlu F, Yanık Ö, Demirel S, Çağlar Ç, Özmert E. Pakikoroid neovaskülopatinin eşlik ettiği bir Best hastalığı olgusu. Turk J Oftalmol. 2019;49:226-229.
  • 12. Guziewicz KE, Sinha D, Gómez NM, Zorych K, Dutrow EV, Dhingra A, Mullins RF, Stone EM, Gamm DM, Boesze-Battaglia K, Aguirre GD. Bestrophinopathy: An RPE-photoreceptor interface disease. Prog Retin Eye Res. 2017 ;58:70-88.
Toplam 12 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Göz Hastalıkları
Bölüm OLGU SUNUMLARI / CASE REPORTS
Yazarlar

Kenan Dağdelen 0000-0003-0615-3721

Yayımlanma Tarihi 16 Temmuz 2024
Gönderilme Tarihi 2 Şubat 2024
Kabul Tarihi 4 Nisan 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 46 Sayı: 4

Kaynak Göster

Vancouver Dağdelen K. Demonstrationof CicatricialStagewith Optical CoherenceTomography in A Child with Best VitelliformMacularDystrophy. Osmangazi Tıp Dergisi. 2024;46(4):651-5.


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